Clinical trialRSSToday
A grandmother shares how a small change in how her grandson's condition was measured helped him qualify for a Duchenne muscular dystrophy (DMD) treatment trial. Researchers adjusted the scoring system by 19 points, which gave him a second chance to participate in the study. This story highlights how trial eligibility rules can sometimes be adjusted to help more patients access new treatments.
WHY IT MATTERSIf your child with DMD has been told they don't qualify for a trial, this story shows that eligibility criteria can sometimes be reconsidered or adjusted—it's worth asking your doctor whether similar flexibility might apply to your situation.
Clinical trialCLINICALTRIALSToday
Researchers are testing a new cancer drug called sutetinib maleate in people with advanced lung cancer that has specific uncommon genetic mutations. This is a Phase 2 trial, meaning the drug has already been tested in a small group and now researchers want to see if it works better and remains safe in a larger group of 66 patients. The study is currently accepting new participants.
WHY IT MATTERSIf you have metastatic or locally advanced non-small cell lung cancer with uncommon EGFR mutations, this trial offers access to a potentially new treatment option that may not yet be available outside of clinical research.
Clinical trialCLINICALTRIALSToday
Researchers at Memorial Sloan Kettering Cancer Center are testing a smartphone app designed to help breast cancer and rare cancer survivors deal with the fear that their cancer might come back. The app uses a technique called Attention and Interpretation Modification (AIM) to help people change how they think about cancer recurrence. The study has enrolled 252 people and is no longer recruiting new participants, but the results could help many cancer survivors in the future.
WHY IT MATTERSThis trial addresses a common but often overlooked mental health challenge for cancer survivors—fear of recurrence—by testing a personalized, accessible mobile app intervention that could be widely available if proven effective.
PolicyRSSYesterday
A large survey in the U.K. found that most people—including families of babies screened for SMA, people living with SMA, doctors, and the general public—strongly support newborn screening for spinal muscular atrophy. The main reason people liked the idea was that catching SMA early could help babies have better health outcomes. Researchers looked at what factors influenced people's opinions about this type of screening.
WHY IT MATTERSIf newborn SMA screening becomes standard in the U.K., babies diagnosed early could start treatment sooner, potentially preventing severe muscle weakness and improving their long-term quality of life.
NewsRSS2 days ago
A person with SMA (spinal muscular atrophy) experienced a serious fall onto concrete while their nurse was helping them get dressed, resulting in intense knee pain. The article discusses how this unexpected injury was a frightening experience for someone already managing a complex rare disease. The post appears to be a personal account about dealing with this new complication.
WHY IT MATTERSPeople with SMA have increased fall risk and fragility due to muscle weakness, making even routine activities like being dressed potentially dangerous — this story highlights a real safety concern for SMA patients and caregivers.
Clinical trialRSS3 days ago
A company called BlueRock Therapeutics tested a new cell therapy called bemdaneprocel for Parkinson's disease. In a small early-stage trial, patients who received one dose of this therapy showed improvement in their movement symptoms, and these improvements lasted for up to three years. This is promising because it suggests a single treatment might help Parkinson's patients for a long time.
WHY IT MATTERSIf bemdaneprocel continues to show sustained benefits in larger trials, it could offer Parkinson's patients a one-time treatment option instead of daily medications, potentially improving quality of life and treatment adherence.
NewsRSS3 days ago
A patient shares their experience with neuromyelitis optica spectrum disorder (NMOSD), a rare disease that affects the nerves in the spinal cord and eyes. They describe how they initially ignored their first symptom until it became so severe that both they and their doctor couldn't overlook it anymore. This personal story highlights how NMOSD symptoms can start small but need prompt medical attention.
WHY IT MATTERSUnderstanding early warning signs of NMOSD is critical because delayed diagnosis can lead to permanent nerve damage, and patients who recognize symptoms sooner may have better outcomes with early treatment.
ResearchRSS3 days ago
Scientists discovered that blocking a protein pathway called JNK in the body may help treat spinal muscular atrophy (SMA), a disease that weakens muscles. In mice with severe SMA, blocking this pathway reduced how bad the disease got and helped the mice live longer. This new approach could work by itself or combined with medicines that are already approved for SMA.
WHY IT MATTERSIf this JNK pathway blocking approach moves to human trials, it could offer SMA patients a new treatment option, potentially as a combination therapy with existing approved drugs like nusinersen or onasemnogene abeparvovec.
NewsRSS3 days ago
A person living with SMA (spinal muscular atrophy) discusses how having up-to-date technology is important for their daily life and work, not just a luxury. The article uses the metaphor of an aging laptop needing frequent repairs to illustrate how people with SMA may need newer devices to help them stay productive and independent. The piece highlights that technology access is a practical health and quality-of-life issue for people managing this condition.
WHY IT MATTERSPeople with SMA often rely on assistive technology and adaptive devices to work and participate in daily activities, making access to current, reliable technology a functional health necessity rather than a luxury.
AdvocacyRSS3 days ago
A patient with von Willebrand disease shares how much they depend on Humate-P, a medication made from donated plasma. The article highlights how plasma donors' generosity directly impacts the lives of people who need plasma-derived treatments to stay healthy and safe.
WHY IT MATTERSPatients relying on plasma-derived therapies like Humate-P depend on a consistent supply of donated plasma — understanding this connection may inspire more people to become plasma donors and help secure treatment availability.
ResearchRSS3 days ago
Researchers found that data from smartphones and wearable devices, collected over several years through a health app, can help doctors identify people with a rare lung disease called idiopathic pulmonary arterial hypertension (IPAH) earlier than before. The study used information like heart rate and activity levels from the My Heart Counts app to spot differences between people with IPAH and healthy people. This discovery could lead to faster diagnosis of this serious condition.
WHY IT MATTERSEarlier detection of IPAH could allow patients to start treatment sooner, potentially slowing disease progression and improving outcomes for this condition that currently has no cure.
NewsRSS3 days ago
A person with pulmonary hypertension (PH), a rare lung disease that makes it hard for the heart to pump blood through the lungs, shares what it was like growing up with this condition. They had to frequently miss school and explain their illness to classmates who asked questions about their absences. This article highlights the social and emotional challenges that young people with chronic rare diseases face alongside their medical treatment.
WHY IT MATTERSPatients with pulmonary hypertension and their families can find validation and community in peer experiences, while healthcare providers gain insight into the psychosocial impact of PH that extends beyond physical symptoms.
AdvocacyRSS3 days ago
A patient-led nonprofit called The Speak Foundation has created a network of specialized clinics called LGMD Centers of Excellence to help people with limb-girdle muscular dystrophy (LGMD), a rare muscle disease. This new network aims to solve a major problem: patients with LGMD have had trouble getting consistent care and doctors have struggled to develop new treatments because the patient population is very small and spread out.
WHY IT MATTERSThis coordinated clinic network could help LGMD patients access specialized care in one place and speed up the development of new treatments by making it easier for researchers to find and study patients.
NewsRSS3 days ago
A patient with Superior Mesenteric Artery Syndrome (SMAS) who had surgery is experiencing low iron levels (low ferritin), which is causing severe fatigue, brain fog, restless legs at night, and poor sleep. The article discusses how iron deficiency after SMAS surgery can make recovery harder and affect quality of life.
WHY IT MATTERSPatients recovering from SMAS surgery need to know that low ferritin levels are a treatable complication that directly causes the exhaustion and cognitive problems they may be experiencing post-operatively.
ResearchRSS3 days ago
Scientists studied how spinal muscular atrophy (SMA) damages the connections between nerves and muscles. They found that in people with SMA, these nerve-muscle connections don't develop properly right after birth, making them weak and unable to work well before nerve cells start dying. This early problem may be an important part of how SMA causes muscle weakness.
WHY IT MATTERSUnderstanding that nerve-muscle connection problems happen early in SMA—before nerve cell loss—could lead to new treatments that target this early stage rather than only treating later damage.
NewsRSS3 days ago
An adult with SMA (spinal muscular atrophy) who lives independently shares insights about how they built a caregiving team of over 20 volunteer friends instead of relying on paid professional caregivers. The article discusses strategies for finding and organizing friends to help with daily care needs, challenging the assumption that people with serious disabilities must use traditional caregiving services.
WHY IT MATTERSFor adults with SMA seeking independence, learning practical strategies to recruit and coordinate volunteer caregivers from your social network can make living on your own financially and socially sustainable.
ResearchRSS3 days ago
Scientists found that haloperidol, a medication normally used to treat psychiatric conditions, may help treat spinal muscular atrophy (SMA) by increasing levels of a protein called SMN that is missing or low in SMA patients. In laboratory tests with mouse cells and human patient cells, haloperidol helped nerve cells survive longer, reduced harmful inflammation, and improved movement. This suggests haloperidol could potentially be used alongside or instead of current SMA treatments.
WHY IT MATTERSIf haloperidol proves effective in human trials, SMA patients could potentially benefit from a medication that already exists and is FDA-approved, potentially offering a faster path to treatment than developing entirely new drugs.
ResearchRSS3 days ago
A study of 34 patients in Hong Kong found that Evrysdi (a medicine taken by mouth) helped children and adults with spinal muscular atrophy (SMA) move better and feel better in their daily lives. Patients who had never taken SMA medicine before saw the biggest improvements. The good results lasted for up to three years.
WHY IT MATTERSThis real-world evidence from Asian patients shows Evrysdi works well outside of clinical trials, which may help doctors decide if it's the right treatment for SMA patients in your region.
NewsRSS3 days ago
This article discusses how people living with SMA (spinal muscular atrophy) can maintain healthy friendships with their caregivers, even when conflicts arise. The author emphasizes the importance of their caregiver community and explores ways to resolve disagreements while keeping these important relationships strong.
WHY IT MATTERSPeople with SMA depend on caregivers for daily support, making it crucial to know how to address conflicts constructively without damaging relationships that are essential to their health and independence.
AdvocacyRSS3 days ago
Delphine Andrews, a life coach and disability advocate from North Carolina who lives with SMA (spinal muscular atrophy), shared her personal story in a podcast interview. She discussed how she learned to accept herself, help others with disabilities, and build a career as a life coach. The episode also covered important topics like managing caregivers and understanding how different parts of someone's identity intersect.
WHY IT MATTERSHearing from someone living with SMA about practical strategies for self-acceptance, caregiver management, and career transition can help newly diagnosed patients and families navigate similar challenges in their own lives.