AFib & Stroke: Uncovering the Risks & Essential Prevention Tips

Atrial Fibrillation (AFib or AF) is a common heart rhythm disorder that affects about 6 million Americans a year. Despite being a heart problem, it also affects the brain. According to studies, people with untreated AF are 5 times more likely to have a stroke than people without AFib. That’s why it’s crucial to understand the connection between AFib and stroke and how to seek help.

Understanding Atrial Fibrillation

Atrial fibrillation (AFib) is a type of irregular heart rhythm where the upper chambers of the heart (the atria) beats out of sync with the lower chambers. Instead of the steady, normal rhythm your heart usually follows, AFib causes it to beat rapidly and unevenly. This irregular heartbeat can feel like a fluttering or pounding sensation in your chest. Some people with AFib don’t even notice the symptoms, while others might experience dizziness, shortness of breath, or fatigue.

AFib becomes more common as we age, but it can affect people at any stage of life. Along with common risk factors like high blood pressure, heart failure, and obesity, lifestyle habits like smoking and drinking alcohol excessively can increase your chances of developing AFib. Living with AFib means your heart isn’t pumping blood as efficiently as it should, which is where the risk of stroke comes in

When your heart is in AFib, the upper chambers, or atria, do not beat effectively. Instead of pumping blood normally, the atria quiver or flutter. This irregularity means blood can pool in these chambers, especially in a small pouch known as the left atrial appendage. When blood remains stagnant, there’s a higher chance for blood clots to form.

If a blood clot dislodges and enters the bloodstream, it can travel to the brain, blocking a vital artery. This blockage cuts off the oxygen supply to part of the brain, causing a stroke. Strokes damage brain cells, leading to permanent loss of function and affecting speech, movement, and cognitive abilities.

Beyond that, many people with AFib also have high blood pressure, which is another significant risk factor for stroke. High blood pressure puts extra strain on the heart and blood vessels, making strokes more likely. AFib is also linked to other heart problems like heart failure and coronary artery disease, which further increase stroke risk. When your heart is already under stress from other conditions, AFib can push it to a breaking point.

How Much More at Risk Are You?

People with untreated AFib are more likely to suffer a stroke than those without it. Studies show that nearly 1 in 7 strokes are linked to AFib. This means it’s not just a heart issue—it’s a major risk to your brain health, too. In fact, strokes caused by AFib tend to be more severe and have worse outcomes than other types of stroke because the clots formed in the heart tend to be larger.

The irregular heart rhythm in AFib disrupts the smooth flow of blood through the heart, making it easier for clots to form. The longer AFib goes untreated, the greater the risk of a stroke.

Recognizing the Early Warning Signs of Stroke

If you have AFib, it’s important to recognize the early signs of a stroke. Acting quickly can save your life and prevent long-term damage to your brain cells. Remember the acronym FAST:

The faster you receive medical attention, the better your chances of recovery.

The Importance of Regular Checkups

If you’re living with atrial fibrillation AFib, schedule regular checkups with your healthcare provider to help you keep your condition in check. Your doctor will monitor your heart rate, adjust medications, and check for other risk factors like high blood pressure or heart failure. Early detection of changes in your heart rhythm or overall health can significantly prevent a stroke.

Exploring Clinical Trials and Research Studies

Although there is currently no cure for AF, clinical trials and research studies are always underway to test new therapies. If you’re interested, learn more about  participating in a clinical trial with Science 37. You may contribute to research that could help others in the future.

High Triglycerides & Heart Disease: Prevention Strategies for Better Health

Triglycerides are a type of fat found in your blood, and they come from the foods you eat—especially those high in sugars and carbohydrates. Triglycerides are important because they give you energy and allow you to function properly. They also help insulate the body and protect vital organs. However, when triglyceride levels rise above 150 mg/dL, they can cause problems. High levels of triglycerides are often linked to atherosclerosis, where fatty deposits build up in your arteries. This buildup narrows the arteries and makes it harder for blood to flow.

Over time, this can set the stage for serious heart issues, including coronary heart disease, heart attack and stroke. Elevated triglycerides can also increase your risk of other cardiovascular diseases, especially if you have high LDL cholesterol (the bad cholesterol) or low HDL cholesterol (the good cholesterol).

The good news is there are practical steps to lower triglyceride levels and protect your heart and we’ll cover those in this article.

What to Know About Triglycerides and Heart Disease

Triglycerides are a type of fat (called lipids) that are often associated with an increased risk of cardiovascular diseases. When you eat more calories than you burn, particularly from foods high in carbohydrates, you may have a condition called hypertriglyceridemia (high triglycerides). And if you don’t get treatment, this may cause harm to your blood vessels and heart.

What’s Considered Normal?

Normal triglyceride levels are less than 150mg/dL or less than 1.7 mmol/L. Your provider will perform a simple blood test to determine whether your levels fall into a healthy range. This test is part of a cholesterol test, which is often referred to as a lipid profile or lipid panel.

Ideally, your triglycerides should be in the normal range. If your levels are borderline high or higher, it might be a good idea to consider some lifestyle changes or talk with your doctor about what you can do next.

Regular check-ups will help you monitor your levels and take proactive steps to keep your heart healthy. This is crucial, considering you’re 25% more likely to die from heart problems when you have triglycerides above 200 mg/dL compared to someone in a normal range.

Why Do High Triglycerides Matter?

High triglycerides can greatly impact your health, especially your heart. But that’s not all. High triglycerides are often a sign of other health conditions that can elevate your risk for heart problems. 

For example, they’re commonly associated with obesity and metabolic syndrome—a group of conditions that includes abnormal cholesterol levels, excess abdominal fat, high blood pressure, and high blood sugar.

Elevated triglycerides can also indicate:

High Triglycerides Causes and Risk Factors

Several factors can lead to high triglyceride levels. Here are some common causes:

  1. Poor Diet: Eating too many sugary foods, refined carbohydrates, and unhealthy fats, like trans fats, can raise triglyceride levels. A diet high in saturated fats can also elevate LDL cholesterol levels.
  2. Lack of Exercise: Physical inactivity is a major risk factor. Regular exercise helps lower triglycerides and improve overall heart health.
  3. Genetics: Sometimes, high triglycerides run in families due to genetic factors. This is often referred to as familial hypertriglyceridemia.
  4. Medical Conditions: Conditions like obesity, metabolic syndrome, high blood pressure, and diabetes can also cause increased triglyceride levels.

Symptoms to Watch For

High triglycerides often don’t show noticeable symptoms, which makes them tricky. However, extremely high levels can cause pancreatitis, leading to severe abdominal pain. It’s essential to have regular check-ups and blood tests to monitor your levels.

Ongoing Clinical Research

A lot of exciting research is happening right now that could change how doctors treat high triglycerides. Scientists are working on new medications and therapies that might be more effective and have fewer side effects than the treatments available today. This means better options for managing triglycerides and protecting your heart in the future.

If you're interested, joining a clinical trial could give you access to these advanced treatments while helping researchers learn more about heart health. Organizations like Science 37 are conducting studies on heart disease, including high triglycerides, to discover better ways to treat and prevent these conditions.

The more we learn from ongoing research, the closer we are to finding the best ways to manage high triglycerides and keep your heart healthy. So, there’s real hope on the horizon for more effective care.

Parkinson’s Disease & Mental Health: Addressing the Hidden Struggles

When you think of Parkinson's disease (PD), what likely comes to mind are the physical symptoms—tremors, stiffness, and slowness of movement. These are the visible signs of a disease that affects nearly one million people in the US alone. But there's another side to Parkinson's that often remains in the shadows, a side that doesn't always get the attention it deserves: the mental and emotional challenges.

If you or a loved one is living with Parkinson's, you may already know that it's not just the physical symptoms that are tough to deal with. The emotional rollercoaster, the anxiety, the creeping feelings of depression, and even cognitive struggles can be just as overwhelming, if not more so. These hidden struggles can make an already challenging journey even more difficult.

Yet, despite how common these mental health issues are for those with Parkinson's, they often go unspoken. It's easy to focus on what you can see—the shaking hands, the slow steps—but what about the things you can't see? The feelings of isolation, the fear of what comes next, the frustration when your mind doesn’t seem as sharp as it used to be?

An Overview of Parkinson’s Diseases

Parkinson's disease is one of the most common movement disorders. It mostly affects your motor function, which includes your ability to control and coordinate movements. This disease occurs when certain nerve cells in a specific part of the brain called the substantia nigra start to break down or die.

These nerve cells are responsible for producing dopamine, a neurotransmitter that plays a critical role in coordinating smooth and controlled muscle movements. As the dopamine levels decrease, the ability to control movement becomes impaired, leading to the characteristic symptoms of PD, which include:

But beyond the hallmark motor function symptoms, you may also experience non-motor symptoms like:

These non-movement symptoms are common and affect the quality of life. In fact, according to the largest-ever clinical study of Parkinson’s by the Parkinson’s Foundation, depression and anxiety are the leading factors that affect the overall health of people living with the condition.

The Mental Health Aspects of Parkinson’s

Depression, anxiety, cognitive changes, psychosis are all extremely common in Parkinson’s disease. Several large studies have revealed the magnitude of these symptoms. More than 50% of all Parkinson’s patients experience mental illness at some point in the disease. Sadly, studies have also shown that physicians often miss these signs, and even when they recognize them, they sometimes don’t treat them.

Parkinson’s and Depression

Many people experience grief or sadness when they get a diagnosis of a chronic condition like Parkinson’s disease. But depression is different. Unlike sadness which is temporary, depression lasts for weeks or months. Depression is a part of Parkinson’s itself, arising from Parkinson’s-related changes in the brain.

You may experience depression at any time in the course of Parkinson’s, even before diagnosis. And the depression symptoms may come and go. An older study found that people with a depression diagnosis were 3.24 times more likely to develop PD than those without. Another study established that depression might be an early sign or a risk factor for PD.

PD affects areas of the brain that produce dopamine, serotonin and norepinephrine – neurotransmitters that regulate mood, appetite, motivation and sleep. Experts believe that an imbalance in these chemicals is what contributes to depression. However, other factors such as negative thinking, social isolation, a history of mental health issues, severe stress, and the side effects of medications can also play a role in worsening depression.

Parkinson’s and Anxiety

Anxiety is another common mood disorder among people living with Parkinson’s. Like depression, anxiety isn’t just a reaction to your diagnosis but is part of the disease itself, rooted in the changes Parkinson’s causes in brain chemistry. About 40% of people with Parkinson’s also experience anxiety disorders, such as generalized anxiety disorder, social avoidance disorder, or obsessive-compulsive disorder.

These anxiety disorders can significantly impact your quality of life, making it difficult to cope with everyday challenges and potentially worsening the physical symptoms of Parkinson’s.

Parkinson’s and Psychosis

Psychosis, though less common than depression and anxiety, can be one of the most distressing mental health challenges associated with Parkinson’s. It typically manifests as visual hallucinations and illusions, where you might see things that aren’t really there or misinterpret visual information. Severe psychosis—characterized by delusions and significant behavioral disturbances—affects about 5% to 10% of people with Parkinson’s.

How to Manage Anxiety and Depression When Living with Parkinson’s

The goal of management of PD is to control the signs and symptoms for as long as possible while reducing the negative effect.

Counseling

Counseling is a valuable tool in managing the emotional and psychological aspects of Parkinson’s. Your trained therapist who understands your medical history will help you navigate your feelings, develop coping strategies, and find ways to maintain a positive outlook. Therapy provides a safe space to express your concerns and work through the complex emotions that PD can bring.

Medication

Your doctor may also prescribe antidepressants or anti-anxiety medications like SSRIs and SNRIs. These help balance the chemicals in your brain, which can reduce the symptoms of depression and anxiety.

Combining Approaches

The most effective way to manage anxiety and depression in Parkinson’s is often a combination of counseling, medication, and lifestyle changes. Regular physical activity, maintaining social connections, and practicing relaxation techniques can all enhance the benefits of counseling and medication.

Coping with Parkinson’s disease is a journey. Some days are better than others, and that’s okay. Focus on taking one day at a time and be kind to yourself. Remember, managing anxiety and depression is a process, and you don’t have to do it alone.

Science 37 offers a clinical trial specifically for Parkinson's Disease. This trial provides an opportunity for individuals to participate in cutting-edge research that aims to improve the understanding and treatment of the disease. By joining, you can contribute to advancements in medical science while potentially gaining access to new therapies and support tailored to your condition. If you're interested in exploring this option, participating in a clinical trial could be a valuable step in your journey with Parkinson's.

Innovations in Atrial Fibrillation: How Clinical Trials Shape the Future of Heart Health

Under normal circumstances, your heart beats in a steady rhythm, usually between 60 and 100 times per minute when you’re resting. This regular beat is what keeps blood flowing smoothly through your body. However, in atrial fibrillation (AFib), the rhythm is off, and the two upper chambers of the heart (the atria) can beat up to 300 times per minute in a chaotic and uncoordinated way. You can usually check this by feeling your pulse at your wrist or neck. 

This irregular heart rhythm makes it difficult for the heart to pump blood effectively. When blood pools in the atria, it increases the risk of forming blood clots. If one of these clots reaches your brain, it can block blood flow and cause an ischemic stroke, which is a stroke caused by a blocked artery. According to experts, AFib is responsible for 15 to 20% of all strokes, many of which lead to heart failure, permanent disability, or death.

Alarming as it is, AFib is not often life-threatening. However, it does require treatment to manage the symptoms and reduce the risk of stroke. Common treatments include medications to prevent stroke and control the heart's rhythm or rate, as well as procedures like cardioversion and catheter ablation. Your doctor may also recommend a left atrial appendage if you can’t take a blood thinner due to the risk of bleeding or falls.

Clinical trials are also underway, testing new treatments and therapies that aim to reduce the risks of AFib, improve patient care, and make managing heart health easier and more effective.

New Advances in AFib Treatment

Medications for atrial fibrillation (AFib) can help manage the condition, but they’re not without their drawbacks. While these drugs are effective, they also come with limitations and can sometimes cause side effects that are uncomfortable or even dangerous. For example, a recent study found that patients on anti-AFib medications often need more pacemakers and face more hospitalizations due to a slower heart rate. Because of these risks, doctors need to carefully weigh the benefits of these medications against their potential downsides.

Thankfully, there are other options beyond medication. One of the most promising alternatives is AFib ablation, also known as catheter ablation. This procedure creates tiny scars in specific areas of the heart to block the abnormal electrical signals that cause arrhythmia.

Studies have shown that a single ablation procedure can reduce or eliminate AFib in about 70% to 80% of patients. This makes ablation more effective than drug therapy in controlling irregular heart rhythms.

However, existing ablative therapy has limitations, too. These include potentially highly morbid complications like phrenic nerve injury and atrial fistula. According to experts, traditional approaches use thermal energy sources like laser, radiofrequency, cryo energy, etc., all of which carry an associated short-and long-term injury risk to nearby structures.

These limitations led to new technology that is even more effective and safer. Let’s explore some of the latest innovations in AFib ablation:

Pulsed Field Ablation

Pulsed Field Ablation (PFA) is a newer technique that uses short, precise bursts of electrical energy to create scar tissue in the heart. The FDA approved the first PFA system in December 2023 to treat persistent and paroxysmal atrial fibrillation. A recent review found PFA to be a promising approach to arrhythmia atrial fibrillation treatment due to its improved safety compared to thermal ablation. PFA only targets heart cells that need to be treated while leaving surrounding tissues unharmed.

Ganglionated Plexi Ablation

A ganglionated plexi ablation is a treatment option for a specific group of AFib patients. Research shows that ganglionated plexi—clusters of nerve cells—are commonly found on the back surface of the right atrium. These nerve clusters are believed to play a key role in triggering and sustaining AFib. Targeting and ablating these nerve clusters in the left atrium provides a more personalized treatment option, especially for patients whose AFib is linked to nerve activity.

Convergent Procedure

The convergent procedure is a hybrid technique that combines the strengths of catheter ablation with a minimally invasive surgical approach. This allows doctors to reach and treat areas of the heart that are difficult to access with traditional methods. It’s a more comprehensive treatment that can improve the chances of successfully managing persistent AFib.

Vein of Marshall Ablation

Vein of Marshall Ablation is a minimally invasive procedure for people who experience persistent atrial fibrillation symptoms. Patients with atrial fibrillation usually start with a pulmonary vein isolation ablation to stop the irregular electrical signals that cause abnormal heart rhythms. However, if the symptoms last longer than seven days, this procedure alone may not be enough.

For those with persistent symptoms, an additional treatment called vein of Marshall Ablation with ethanol infusion can be used. When combined with pulmonary vein isolation, this procedure targets and removes extra triggers and risk factors that can cause atrial fibrillation.

New Medications

Traditionally, anticoagulant therapy is used to reduce the risk of stroke in people with AFib. However, these medications can increase the risk of bleeding, which is a serious concern. New medications being tested in clinical trials for heart diseases aim to offer effective stroke prevention with fewer adverse events. These drugs could become the new standard of care if they prove safer and more effective than existing options.

The Impact of Clinical Trials on Heart Health

Clinical trials are crucial because they help doctors and researchers learn more about what works best in real-world situations. They provide valuable insights into how new treatments can improve patient outcomes, reduce the risk of stroke, and enhance the quality of life for those living with AFib.

As innovations are tested and refined, they have the potential to change the way AFib is treated across the world. And the best part is that you can participate in this process by enrolling in a clinical trial. 

The ongoing research and development in the field of atrial fibrillation treatment offer hope for better, safer, and more effective ways to manage this condition. As clinical trials continue to explore new possibilities, the advancements made today will pave the way for improved heart health tomorrow.

Managing Childhood Asthma: Tips for Parents, Caregivers & Patients

Asthma can be tough, especially when it’s your child or someone you care about struggling to breathe. But even though there’s no cure, asthma doesn’t have to stop you or your loved one from living a normal, happy life. With the right tips and support, you can manage asthma and breathe easier. In this guide, we’ll share practical tips and advice to help you handle asthma day by day.

Understanding Asthma

Asthma is a lung disease. It’s chronic, which means it doesn’t go away and needs ongoing medical management. Asthma is one of the most common non-communicable diseases and a leading chronic disease in children. According to the Asthma and Allergy Foundation of America, over 27 million (1 in 12) US adults ages 18 and older had asthma in 2023. During the same period, about 4.5 million children under 18 had asthma.

Asthma can be a minor nuisance for some. But for others, it can be a major problem that affects daily activities and leads to a life-threatening asthma attack. That’s why it’s critical to seek medical help when you have or suspect that you have asthma. Early treatment may also prevent long-term lung damage. Some common symptoms to watch out for include:

Researchers still don’t know why some people have asthma while others don’t. But environmental factors, genetics, respiratory infections, and allergies are believed to increase the risk. Environmental factors are particularly harmful to infants and young children whose immune systems are still developing.

How to Manage Childhood Asthma

Managing childhood asthma involves taking proactive steps to reduce the risk of asthma attacks and improve your child's quality of life. Some children outgrow asthma as they get older, but it’s crucial to control symptoms and minimize exposure to triggers in the meantime. Let’s explore ways to manage childhood trauma:

Recognize Triggers

Triggers are things that irritate your airways and set off your asthma symptoms. People have different triggers, so you want to know which ones affect you or your loved one. Some common triggers include cigarette smoke, dust mites, mold, pollen, pet dander, physical activity, weather, chemicals, metal salts, certain medicines, high emotions, etc.

Sometimes, it can be obvious what triggers your asthma. If you get symptoms after coming in contact with smoke from open fires or cigarettes, then smoke is probably one of your triggers. The same applies to contact with pets like dogs and cats. However, triggers like pollen or air pollution may be hard to determine because allergens aren’t visible.

You should, therefore, keep a diary of when you experience symptoms, your location, the weather conditions and the things you were exposed to, including stress.

Avoid Triggers

Once you understand your triggers, the next step is to focus your efforts in the right area. Avoiding them at all times might not be possible, but you can minimize exposure so your symptoms are easier to manage. Here are some quick tips on how to go about it:

Maintain a Medication Routine

Asthma is a chronic illness that doesn’t go away and requires ongoing management. Even if your child feels fine, their lungs might still be inflamed. Asthma medication—especially inhaled corticosteroids and other controller medicines—reduces inflammation and keeps airways open. Skipping doses or only using medication when symptoms appear can lead to more frequent and severe asthma attacks.

How to Do It

Create an Asthma Action Plan

You’ll need an action plan to manage your child’s asthma effectively. A good asthma action plan outlines what to do daily to keep asthma under control and the steps to take when symptoms worsen. This way, you can recognize early warning signs, know what to do and communicate with everyone involved in your child’s care.

How to Create an Asthma Action Plan

  1. Work with your healthcare provider: Collaborate with your child’s doctor to develop a plan tailored to their needs. The doctor will help set up different zones based on how well your child’s asthma is controlled.
  2. Define the zones:

3.    Include clear instructions: Detail how and when to use medications, including dosages and timing. Also, provide guidance on recognizing worsening symptoms and how to respond.

  1. Update the plan regularly: As your child grows or their asthma changes, revisit the plan with their healthcare provider. Make updates to ensure it continues to meet their needs.
  2. Share the plan: Give copies of the Asthma Action Plan to everyone involved in your child’s care, including school staff, family members, and caregivers. Ensure they understand what to do and where the plan is kept.
  3. Practice with your child: Review the plan with your child and practice the steps, especially what to do if they enter the yellow or red zones. This helps them feel more confident and in control of their condition.

Get Regular Check-Ups

Regular check-ups with your child’s healthcare provider are essential to controlling asthma. During these visits, your provider will perform a physical exam to assess your child’s lung function. They will review and adjust medication as necessary and advice on the latest advancements, including clinical trials. Regular appointments are a good time to ask questions and ensure your child’s asthma management plan is still effective.Science 37 is currently conducting a clinical trial for asthma. This trial is designed to explore new treatment options and improve the management of asthma symptoms. By participating, you can help advance medical research and potentially benefit from innovative therapies that could enhance your quality of life. If you're living with asthma and are interested in contributing to scientific progress, this clinical trial could be a valuable opportunity to explore new possibilities for managing your condition.

The Future of Fragile X Syndrome: Promising Research & Hope

Fragile X syndrome (FXS) is the most common form of inherited intellectual disability, affecting about 1 in 7,000 males and 1 in 11,000 females worldwide. The disorder causes behavioral issues, physical abnormalities, and a range of other health problems. Currently, there’s no cure for FXS. However, interventions like speech therapy, special education, behavioral and physical therapy, and medication offer the chance for patients to optimize a full range of skills. Ongoing FXS research also paves the way for new treatments that provide hope to those affected by this condition. 

An Overview of Fragile X Syndrome

FXS is a genetic disorder caused by a mutation in the Fragile X Messenger Ribonucleoprotein 1 (FMR1) gene located on the X chromosome. This gene is responsible for producing a protein called FMRP, which helps in brain development and the formation of connections between brain cells vital for learning and cognitive function.

For those with FXS, the changes in the FMR1 gene prevent it from producing sufficient FMRP. This leads to symptoms like learning disabilities, developmental disabilities, and behavioral challenges. People with FXS often struggle with reasoning, problem-solving, and applying knowledge in everyday situations. They may also have social and emotional issues like difficulty understanding social cues, forming relationships, or managing social interactions. Autism spectrum disorder (ASD) is also common among those with FXS.

In addition to behavioral and cognitive impairments, FXS may also present distinct physical features, such as a long face, large ears, and flexible joints. These features, along with other issues like flat feet and low muscle tone, can affect physical coordination and mobility. These symptoms are not life-threatening, and those with the condition typically can expect a normal life expectancy.

While some people with Fragile X-associated disorders may still produce some FMRP, the severity of symptoms is primarily determined by how much of the protein is produced. Males who have FXS often have some level of intellectual disability that ranges from mild to severe. On the other hand, females may have some level of intellectual disability or normal intelligence.

Risk Factors

FXS is an inherited genetic disorder. However, several specific risk factors can increase the likelihood of a person being affected by or carrying the mutation. These include carrier parents, one or more family members affected by the condition, etc. 

Emerging Trends and Future Advancements in Treatment

Fragile X syndrome has no cure at the moment. But there are off-label drugs that target specific symptoms of the disease, such as SSRIs for anxiety and depressive symptoms, and stimulants that include methylphenidate for impulsivity, inattention, and hyperactivity. People with FXS may also get behavioral health counseling and therapy to address the psychological aspects of the condition. Education, medication, and therapy services give FXS patients the best chance to use all their skills and capabilities. 

But there are ongoing studies and clinical trials to try to find FSX treatment. Let’s explore some of the emerging research and latest advancements in the field:

Gene Therapy & Protein Replacement Studies

One of the most exciting areas of research for Fragile X Syndrome is gene therapy. Scientists are exploring ways to fix FXS at its root cause by reactivating the silenced FMR1 gene. Technologies like CRISPR gene therapy are being used to restore the function of this crucial gene in people with the full mutation.

Such groundbreaking studies show promising results, offering hope that this approach might lead to a viable treatment. While more work is needed before these techniques are ready for clinical use, the progress made so far is promising.

Correcting Genetic Processing Errors

Another promising development comes from recent discoveries about the FMR1 gene. Contrary to earlier beliefs, researchers found that the mutated gene responsible for FXS is active in most people (about 70%) with the disorder. However, the gene fails to produce the necessary FMRP protein because the genetic material isn’t processed correctly.

Repositioning Treatments in Development

In addition to gene therapy and genetic processing corrections, various therapies, and research strategies are being explored for FXS. Researchers are investigating how these therapies might target the symptoms and underlying mechanisms of FXS. 

Clinical Trials

Clinical trials provide the ultimate confirmation that a therapy is safe and effective for use in humans. They play a vital role in translating promising research into real-world solutions for those affected by Fragile X Syndrome (FXS). Many organizations and research institutions are conducting clinical trials to evaluate new and innovative treatments for FXS, offering hope to individuals and families impacted by the disorder.

Science 37 is taking the lead with FXS clinical trials. As a pioneering clinical trial technology company, we’re changing how clinical trials are conducted for Fragile X Syndrome and other conditions. Our innovative approach focuses on creating more accessible and patient-centric trials.

We employ advanced digital platforms that allow clinical trials to be conducted virtually, a method known as decentralized clinical trials (DCTs). This approach enables participants to participate in trials from the comfort of their homes, reducing the need to travel to specialized medical centers. For families dealing with the challenges of FXS, this model offers significant advantages like:

Several ongoing clinical trials explore novel treatments for FXS, leveraging the advantages of Science 37's technology. From gene therapy trials to targeted molecular treatments to behavioral and cognitive interventions, these trials pave the way for potentially transformative therapies for FXS.

How PBC and PSC Affect Liver Function: A Detailed Overview

Your liver is an essential organ that performs many crucial functions to keep your body healthy. It processes nutrients from your food, detoxifies harmful substances, produces bile to aid digestion, and helps with blood clotting. Essentially, the liver keeps your body's metabolism running smoothly.

But conditions like primary biliary cirrhosis (PBC) and primary sclerosing cholangitis (PSC) disrupt these functions. Each condition has its unique features and progresses differently, but both may eventually lead to cirrhosis and liver failure. In this guide, we’ll explore how PBC and PSC affect liver function and the mechanisms by which they damage the bile ducts and liver cells. 

What's Primary Biliary Cirrhosis? 

PBC or primary biliary cholangitis is an autoimmune disease that primarily affects the bile ducts within the liver. So basically, your immune system mistakenly attacks the bile ducts, leading to inflammation and scarring. Over time, this degrades the ducts and makes it harder for bile to flow to your small intestine.

As a result, bile backs up inside your liver and damages the tissue. Scar tissue slowly replaces healthy tissue, and your liver eventually loses its functionality. PBC is chronic and progressive, meaning it doesn’t go away and worsens over time.

Progression and Impact on the Liver

PBC progresses slowly through several stages. In the beginning, it’s mild, and you might miss it. But in the end, the liver becomes increasingly scarred, leading to a condition known as cirrhosis. Cirrhosis marks the end-stage of liver disease, where liver function is significantly impaired. If left untreated, this can eventually cause liver failure, which is life-threatening.

The progression of PBC varies from person to person, but understanding its impact is essential for managing the disease. Primary Biliary Cirrhosis symptoms include itching, dry eyes and mouth, and jaundice.

What is Primary Sclerosing Cholangitis?

PSC is another chronic liver disease that affects the bile ducts. However, PSC tends to cause inflammation and scarring in both the small and large bile ducts inside and outside the liver. This differs from PBC, which primarily affects the smaller bile ducts within the liver.

The exact cause of PSC is not well understood, but it's believed to be linked to genetic and environmental factors. Like PBC, PSC is also considered an autoimmune disease. It’s worth noting that PSC often accompanies inflammatory bowel disease, particularly ulcerative colitis, hinting at a complex relationship between the liver and immune system.

Mechanism of PSC

In PSC, the inflammation causes scarring and narrowing of the bile ducts. This blockage impedes bile flow, leading to liver cell damage. The obstruction of bile acids results in liver inflammation, contributing to the progression of liver disease.

Progression and Impact on the Liver

The disease progresses slowly in most people with PSC and causes symptoms like fatigue, abdominal pain, itchy skin, and jaundice. Eventually, you may experience repeated infections, portal hypertension, metabolic diseases, tumors, or liver or duct and liver failure. At the moment, the only known cure for advanced PSC is a liver transplant. However, the disease may recur in the transplanted liver in a small number of patients.

The Role of Bile Acids and Liver Dysfunction

Bile acids play a vital role in digestion, helping to break down fats and absorb fat-soluble vitamins. In both PBC and PSC, the inflammation and scarring of bile ducts can obstruct bile flow, causing bile acids to accumulate in the liver and bloodstream.

This buildup can be toxic to liver cells and contributes to liver disease progression. It can also lead to digestive issues, affecting your body's ability to process nutrients effectively. When bile flow is impaired, it can also impact the small intestine, leading to nutritional deficiencies and digestive discomfort. This disruption in digestion highlights the importance of maintaining healthy bile flow for overall health.

Similarities and Differences Between PBC and PSC

PSC and PBC are both chronic liver diseases that primarily affect the bile ducts. Both diseases are progressive and are thought to have an autoimmune component, where the body’s immune system mistakenly attacks the bile ducts. The attack causes inflammation and subsequent damage. PBC and PSC also cause similar symptoms and side effects like: 

But the two are also different in the following ways: 

Disease Mechanism

PBC primarily affects the intrahepatic (or small) bile ducts within the liver. In contrast, PSC affects both the intrahepatic (inside the liver) and extrahepatic (outside the liver) bile ducts. While you can treat PBC with medications, PSC is more complicated and has no effective treatment.

Affected Population

PBC is more common in middle-aged women, with about 90%of cases occurring in females. This suggests a potential hormonal or genetic link in its development. On the other hand, PSC tends to affect young to middle-aged men more frequently, although it can occur in both genders. 

Associated Conditions

PBC is not typically associated with other diseases, although some patients may have other autoimmune conditions, such as rheumatoid arthritis or Sjögren's syndrome. PSC, however, has a strong link with inflammatory bowel disease (IBD), particularly ulcerative colitis or Crohn’s disease. Up to 80% of PSC patients may have IBD. 

Diagnostic Markers

PBC is often diagnosed through blood tests that detect specific antibodies, such as anti-mitochondrial antibodies (AMA) or anti-nuclear antibodies (ANA). These antibodies are present in about 95% of PBC patients and provide a clear marker for diagnosis, making it easier for doctors to identify PBC early. 

There are no specific antibodies in PSC like in PBC, making diagnosis more challenging. Instead, PSC is typically diagnosed through imaging studies like MRCP (magnetic resonance cholangiopancreatography) or ERCP (endoscopic retrograde cholangiopancreatography) that reveal characteristic bile duct changes. Liver biopsy may also be used to assess the extent of liver damage.

Treatment

PBC treatment mainly focuses on managing signs and symptoms and slowing disease progression with medications like ursodeoxycholic acid (UDCA), which helps improve bile flow and reduce liver inflammation. Newer medications are also being explored to offer more targeted therapies for PBC patients.

PSC lacks a specific medical treatment. Treatment often involves managing complications and considering liver transplantation for advanced cases. Endoscopic procedures may be used to manage bile duct strictures, but long-term management still remains a challenge.

Organizations like Science 37 are running trials for new treatments or improving existing ones. If you need more detailed information on clinical trials or specific aspects of treatment, please feel free to ask.

Narcolepsy & Mental Health: Addressing the Psychological Impacts

Most people who struggle with mental health disorders have sleep troubles, and vice versa. This is because the two are closely connected, oftentimes with one leading to the other. Studies have linked sleep disorders like obstructive sleep apnea, restless legs, and narcolepsy to depression, anxiety, bipolar and other mental health disorders. At the same time, these mental health issues may also cause poor sleep. 

What Is Narcolepsy?

Narcolepsy is a chronic sleep disorder with no known cause. It affects the brain's ability to control sleep-wake cycles, resulting in excessive daytime sleepiness. Under normal circumstances, the sleep-wake cycle includes various stages that gradually transition from light sleep to deep sleep and finally to REM (Rapid Eye Movement) sleep. 

REM sleep is essential for dreaming and helps rejuvenate your mind and body. However, if you have narcolepsy, this process is disrupted. Instead of following the typical progression through the sleep stages, you quickly enter REM sleep shortly after falling asleep, skipping the initial stages.

You’ll also experience fleeting urges to sleep. When the urge becomes overwhelming, you’ll fall asleep for a few seconds to several minutes – though sometimes, you may remain asleep for an hour or longer.

Symptoms of Narcolepsy

Here are some common narcolepsy symptoms:

  1. Cataplexy, sudden muscle weakness
  2. Excessive daytime sleepiness (EDS)
  3. Sleep paralysis
  4. Hypnagogic hallucinations
  5. Disrupted nighttime sleep and waking up often
  6. Continual lack of energy and intense fatigue
  7. Depression
  8. Weak limbs
  9. Vision problems
  10. Difficulty in focusing and memorizing 
  11. Automatic behavior, where you perform routine tasks without conscious awareness of doing so

Narcolepsy and Mental Health 

Narcolepsy often co-occurs with mental health issues like depression and anxiety. 

Depression and Anxiety

According to a survey, about 57% of narcolepsy patients said they’re depressed. In contrast, only about 4.7% of adults in the US say they have regular feelings of depression.  At the same time, about 35% of people with narcolepsy had anxiety disorders like social phobias and panic attacks. That compares to about 18% of the general population.

ADHD

Scientists believe that there’s a link between attention deficit hyperactivity disorder and narcolepsy. Although the two medical conditions seem to be on opposite ends because of how they present themselves, a study found that children with narcolepsy are more likely to present ADHA symptoms than those with regular sleep patterns.

Eating Disorders

People with narcolepsy are also at a higher risk for developing eating disorders, especially binge eating and abnormal food cravings. In one study, about a quarter of those with narcolepsy met the criteria for having an eating disorder.

Schizophrenia

Narcolepsy and schizophrenia share some similar symptoms, such as hallucinations. Researchers have looked into cases where individuals show signs of both disorders. These issues often begin in childhood or the teenage years. However, being diagnosed with both schizophrenia and narcolepsy is relatively rare.

How Narcolepsy Fuels Emotional Distress

The unpredictable nature of narcolepsy often makes mental health issues like depression and anxiety even harder to manage. For example:

Many people are likely to isolate themselves, due to the worry or fear of these unpredictable symptoms. You might avoid gatherings, work events, or outings with friends to prevent potential embarrassment. But isolation isn’t good for your mental health. In fact, according to studies, feelings of isolation are linked to suicidal thoughts, less restful sleep, more stress, and a decrease in your ability to regulate eating habits.

The unpredictable nature of this sleep disorder can also chip away at your self-esteem. The sudden symptoms might make you feel inadequate – especially since you struggle to maintain a routine or keep up with responsibilities. Low self-esteem is known to cause persistent feelings of sadness, depression, anger, anxiety, guilt, or shame.

Sadly, mental issues like anxiety or depression make narcolepsy symptoms worse. High-stress levels can disrupt your sleep patterns, leading to more daytime sleepiness and sleep attacks. It’s a vicious cycle where poor sleep increases emotional distress, and emotional distress worsens sleep quality. The more stressed and anxious you feel, the harder it becomes to get restorative sleep, which is crucial for managing narcolepsy.

Ways to Improve Narcolepsy and Sleep

Both sleep and mental health can have a major impact on quality of life, so it’s crucial to get proper care that involves working with a trained health professional. Your doctor or psychiatrist will assess the benefits and risks of different types of treatments and offer customized care even in situations with multiple co-occurring mental or physical issues.

One of the go-to treatments for narcolepsy is sodium oxybate. This prescription drug is given for narcolepsy with cataplexy and excessive daytime sleepiness. It helps regulate your sleep patterns so you get better rest at night and feel more awake during the day.

Sodium oxybate targets specific brain chemicals that keep your sleep-wake cycles more stable. Other medications, like antidepressants and stimulants, help to improve your mood and sleep, and can boost your energy and alertness.

Beyond medications, your doctor may recommend therapy for both conditions. Behavioral therapies like Cognitive Behavioral Therapy (CBT) can help reframe your thinking. Your therapist will use different types of CBT for specific problems like bipolar disorder, anxiety, and depression.

They may also use CBT for insomnia (CBT-I) to help reduce sleep problems. A large clinical research study showed that CBT-I can lessen the symptoms of many mental health conditions.

You may also need to make simple lifestyle changes to manage the conditions. Try to stick to a regular sleep schedule, get some light exercise, and practice good sleep habits. These can all help you feel better during the day. Relaxation techniques like meditation or yoga are great for reducing stress and boosting your immune system.

Exciting things are happening in the world of narcolepsy research. Plenty of clinical trials are looking into new treatments. For example, Science 37 is working on some cool studies to discover new ways to tackle narcolepsy. These trials aim to find more effective treatments that can offer real relief and improve the quality of life for people with narcolepsy.

Nutrition and Sickle Cell Disease: Foods that Help and Foods to Avoid

Sickle Cell Disease (SCD) is a genetic blood disorder that affects the shape and function of red blood cells. Instead of being round and flexible, like healthy red blood cells, the cells in someone with SCD are crescent or "sickle" shaped. The change in shape causes these cells to get stuck in blood vessels, leading to painful episodes known as crises and other serious health issues like stroke, eye problems, infections, chronic pain, chest pain, and shortness of breath. 

Living with SCD is tough, but the proper nutrition can help. The right foods can help your body produce healthier red blood cells, reduce pain and inflammation, and give you the energy you need to feel your best. 

Understanding Sickle Cell Disease

SCD is a genetic blood disorder that’s marked by flawed hemoglobin (hb). Hb is the protein in the red blood cells that transports oxygen to the body tissues. SCD interferes with the delivery of oxygen to the tissues. 

What Causes Sickle Cell Disease?

SCD is inherited in an autosomal recessive pattern, meaning a person must inherit two abnormal hemoglobin genes (one from each parent) to develop the disease. If someone inherits one abnormal gene and one normal gene, they will have sickle cell trait, which typically doesn't cause symptoms of SCD but can be passed on to offspring. Risk factors include: 

Signs and Symptoms of Sickle Cell Disease

Signs and symptoms of SCD can include:

Please note that these symptoms vary in intensity and require prompt medical attention when severe. Symptoms like acute chest syndrome, where sickle cells block vessels in the lungs and cause chest pain, fever, and breathing difficulty, can be life-threatening. So, it’s critical to work closely with your healthcare provider to monitor and address these symptoms as they arise.

SCD Diagnosis 

Diagnosis is done early in life with a newborn screening. This test checks for the presence of sickle hemoglobin shortly after birth. Early diagnosis is super important because it lets doctors start treatment right away to prevent complications. If you are pregnant and suspect that you, your partner, or both of you have the sickle cell trait, genetic counseling can help clarify the situation and provide guidance on the potential risks for your child.

Sickle Cell Disease Treatment

SCD is a lifelong disease. Most treatments are designed to help improve quality of life, though options like bone marrow transfer have been shown to potentially cure SCD: 

Foods that Help Improve Health in Sickle Cell Diseas

A healthy diet supplies the body with the nutrients it needs to fight infections and promote health. Here are some great goods to integrate as part of your diet when you have sickle cell disease:

Fluids

Hydration is good for the body, even under normal circumstances. But it’s critical when you have sickle cell. Your body needs fluids to keep the blood flowing smoothly and prevent sickle cells from clumping together. Go for at least eight glasses of water a day. Herbal teas and natural fruit juices without added sugars are also great choices.

Iron-Rich Foods

Iron is super important because it helps your body make healthy red blood cells, which helps fight anemia – a common issue with SCD. Try to include the following foods and pair them with foods rich in Vitamin C (bell peppers or oranges) for better absorption.

Folate-Rich Foods

Folate also does a great job helping the body produce red blood cells. Great examples of folate-rich foods are: 

Antioxidant-Rich Foods

Such foods help reduce oxidative stress and inflammation, which is beneficial for SCD. These foods, rich antioxidants, can help protect your cells and support your immune system:

Omega-3 Fatty Acids

These foods have anti-inflammatory properties that can help reduce pain and improve your overall health. They also are good for your heart health. Foods rich in omega-3s include:

Protein-Rich Foods

Proteins help your body repair and grow, which is great for SCD. Make sure to get a variety of protein sources:

Foods to Avoid if You Have Sickle Cell Disease

Just as there are foods that can help you feel better with sickle cell disease, there are also foods that might make your symptoms worse. Here are some types of foods you should try to avoid:

High-Sodium Foods

Foods high in sodium can increase your blood pressure and cause your body to hold onto extra fluids. This puts more strain on your heart and blood vessels. Lower your sodium intake to help keep your heart and blood vessels healthy.

Gluten

Foods rich in gluten tend to worsen anemia. Gluten may damage the intestinal wall and limit folic and iron absorption, which are essential in the production of red blood cells.

High-Fat Foods

Unhealthy fats, especially saturated and trans fats, cause inflammation and increase the risk of heart disease. It's important to maintain a healthy weight and manage your cholesterol levels to keep your heart in good shape.

Caffeine and Alcohol

Limit or avoid caffeine and alcohol intake. Caffeine contains tannins which bind to iron molecules and interfere with iron absorption in the body. Alcohol affects the production and maturation of red blood cells, causing abnormality or dysfunction of cells. It also affects how nutrients are absorbed from food and may lead to folic and iron deficiencies. Until recently, a bone marrow transplant was the only cure. But in December 2023, two new therapies got FDA approval to treat sickle cell disease. One approach involves adding a gene to the body, while the other modifies an existing gene. Clinical trials are also exploring gene-based treatments alongside other therapies to help reduce symptoms and extend lifespan.

The Journey of Vaccine Clinical Trials: From Concept to Approval

Vaccines protect us from infectious diseases that could otherwise cause illness or even death. They work by training our immune system to recognize and fight off harmful viruses and bacteria before they take hold and cause disease. Vaccines have eradicated or significantly reduced many deadly diseases, like smallpox, polio, RSV flu, and COVID-19, saving millions of lives. But how do vaccines go from concept to being a critical part of our healthcare system?

Introducing a new vaccine to the market involves extensive planning and a series of rigorous steps. The vaccine development process includes many stages, with clinical trials playing a crucial role. These trials are conducted to evaluate the novel vaccine's effectiveness and safety using a specific group of human participants. Let's explore the journey of vaccine clinical trials.

How Are Vaccines Made?

Since the outbreak of the COVID-19 pandemic, we’ve seen an unmatched level of funding for vaccine research and development (R&D). The US Department of Health And Human Services, for instance, awarded more than $1.4b for Project NextGen to support the development of a new generation of technologies and tools to protect against COVID-19. But R&D is only the first of many steps:

Research and Discovery

The journey of a vaccine begins with research and discovery, where scientists identify potential antigens that can trigger an immune response, like the spike protein in the SARS-CoV-2 virus for COVID-19 vaccines. This phase involves extensive laboratory work, experimenting with different formulations to stimulate the immune system safely and effectively.

Researchers collaborate across various fields, conducting numerous experiments to understand immune interactions with these antigens. This foundational stage often takes about 10 to 15 years and aims to develop a formulation that trains the immune system to recognize and combat the disease-causing pathogen.

Preclinical Research 

The vaccine then undergoes preclinical research to prove its concept. This involves using small animal models, such as mice, to study how the vaccine interacts with the immune system. The proof of concept stage helps researchers understand how the vaccine works and identify any potential side effects.

They may also adjust the vaccine formulation to enhance its effectiveness. If the results from these animal studies are promising, demonstrating a strong and safe immune response, the vaccine candidate moves to the next step: clinical trials in humans.

Testing the Vaccine

Once a vaccine candidate shows promise in preclinical research, it enters the clinical trial phase, which involves several stages of testing in humans to ensure safety and efficacy. 

Phase 1

In Phase 1, the vaccine is administered to a small group of 20-100 healthy volunteers. This phase focuses on assessing the vaccine’s safety and determining the appropriate dosage. Researchers monitor participants closely for any side effects and evaluate how well the vaccine induces an immune response.

Phase 2

If Phase 1 results are positive, the vaccine progresses to Phase 2, involving several hundred (usually 100 to 300) participants. This phase expands the safety assessments and begins to evaluate the vaccine's efficacy in a broader population. Participants are often chosen to represent the demographics of the intended recipients, including different ages, health statuses, and backgrounds. The phase offers additional safety information on common side effects or risks and how well the vaccine triggers an immune response.

Phase 3

Phase 3 trials involve thousands (1,000 to 3,000) of participants and aim to confirm the vaccine's effectiveness and monitor for rare side effects. This phase provides a comprehensive assessment of the vaccine's ability to prevent the disease in a real-world setting. The data collected during this phase are critical for the FDA's approval process, ensuring the vaccine meets rigorous standards for public health use.

Phase 4 (After FDA Approval)

After the Food and Drug Administration approves a vaccine, it may enter Phase 4, which involves ongoing studies to monitor long-term safety and efficacy in larger populations. This phase ensures continuous assessment of the vaccine's performance and helps identify any rare or long-term side effects. The Centers for Disease Control and Prevention and other public health organizations play a vital role in this ongoing surveillance, ensuring vaccines remain safe and effective for widespread use.

Manufacturing

Simultaneously with Phase 3 trials, the vaccine's manufacturing process undergoes rigorous scrutiny. The FDA inspects manufacturing facilities to ensure they meet strict quality standards. Each batch of vaccines, known as "lots," undergoes extensive testing to verify consistency and potency. This meticulous process ensures that every vaccine dose produced is safe and effective.

Approving the Vaccine

Before a vaccine can be approved for public use, the manufacturer submits a Biological License Application (BLA) to the FDA. This application includes comprehensive data from preclinical and clinical trials, details of the manufacturing process, and facility inspections. The FDA reviews this data meticulously to determine if the vaccine meets safety and efficacy standards. Approval signifies that the vaccine has undergone rigorous testing and is deemed safe for widespread use.

Recommending the Vaccine for Use

Once approved by the FDA, independent advisory committees, like the Advisory Committee on Immunization Practices (ACIP), review the vaccine's data. They provide recommendations on how, where, and when the vaccine should be administered. Their guidance ensures that vaccines are used effectively to protect public health and address specific population needs.

Monitoring Safety After Approval

Even after a vaccine is approved and distributed, monitoring continues. Systems like the Vaccine Adverse Event Reporting System (VAERS) track potential side effects reported by healthcare providers and patients. Ongoing surveillance ensures swift identification and response to any safety concerns that may arise post-vaccine approval. This continual monitoring is crucial for maintaining public confidence in vaccine safety and effectiveness.

Classification of Vaccines

Vaccines come in two main types: live attenuated vaccines and inactivated vaccines. Both types help protect against serious diseases and keep us healthy.

Live Attenuated Vaccines

Live attenuated vaccines use weakened forms of the actual virus or bacteria. These are strong enough to train the immune system but not cause serious illness in healthy people.

Live attenuated vaccines that are available and routinely recommended in the United States are MMR, rotavirus, varicella, and influenza (intranasal). It may also be used as a typhoid vaccine, adenovirus vaccine, and BCG. 

Inactivated Vaccines

Inactivated vaccines use viruses or bacteria that have been killed. They can’t cause disease but still trigger an immune response. These often need multiple doses and include subunit vaccines (like pneumococcal and influenza vaccines), whole cell inactivated vaccines (like polio, hepatitis A, and rabies), recombinant DNA vaccines (like HPV and hepatitis B), and influenza.

Science 37 is at the forefront of vaccine clinical trials, offering remote participation options that allow you to take part from the comfort of your home. The organization connects researchers, healthcare providers, and participants, making the trial process more efficient and inclusive. By enabling remote involvement, Science 37 accelerates the development of new vaccines, ensuring they are safe and effective for diverse populations. Participants may also be compensated for their time, adding an extra incentive to contribute to this crucial research.