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1 month ago | 
charcot-marie-toothnews.com | Andrea Lobo |Hawken Miller |Lindsey Shapiro |Patricia Inacio
The U.S. Food and Drug Administration (FDA) has granted orphan drug status to Encell’s EN001, an investigational stem cell therapy for Charcot-Marie-Tooth disease (CMT). This designation is intended to accelerate the development of therapies designed to prevent, diagnose, or treat rare diseases — those affecting fewer than 200,000 people in the U.S. It comes with certain incentives, such as tax credits, fee exemptions, and seven years of market exclusivity if the therapy is ultimately approved.
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1 month ago | 
alsnewstoday.com | Kristin Neva |Hawken Miller |Margarida Maia |Steve Bryson
It’s become exceedingly difficult for my husband, Todd, to leave our home now that he’s in an advanced stage of ALS. His neck is weak because of disease progression, and he uses noninvasive ventilation nearly all the time. To make matters worse, we live in a northern climate with cold winter months and over 200 inches of snowfall per year. Over the past few years, Todd has left the house only for doctor and dentist appointments.
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1 month ago | 
fabrydiseasenews.com | Steve Bryson |Lindsey Shapiro |Hawken Miller
Mild to moderate cerebrovascular disease, which occurs when blood flow in the brain is impaired, is a characteristic brain signature in adults with Fabry disease, according to a new study. Nearly half of those examined showed signs of white matter damage, for which impaired kidney function was the sole predictive factor. Also, more than two-thirds had signs of cognitive impairment.
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1 month ago | 
friedreichsataxianews.com | Mary Chapman |Hawken Miller |Larry Luxner
Note: This story has been updated March 6, 2025, to correct a quote from Mindy Henderson, MDA vice president of disability outreach and empowerment. The Muscular Dystrophy Association (MDA) is once again hosting its annual gathering, the MDA Clinical & Scientific Conference. The 2025 event will take place on March 16-19 in Dallas at the Hilton Anatole.
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1 month ago | 
pulmonaryhypertensionnews.com | Margarida Maia |Anna Jeter |Mike Naple |Hawken Miller
I think it is more effective to watch for good advice instead of asking for it. An Inc. article titled “25 Excellent Pieces of Advice That Most People Ignore” covers words of wisdom that often go in one ear and out the other. “It’s easy to find someone to tell you what you want to hear, but your true ally is one who tells you what you need to learn,” the author writes.
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1 month ago | 
sicklecellanemianews.com | Mary Shaniqua |Hawken Miller |Dunstan Nicol-Wilson
In a society that’s seemingly obsessed with sex and physical intimacy, you may be surprised to hear that there aren’t many resources available for those with chronic illness and physical limitations. So let’s talk about it.
Sickle cell disease is one of many conditions that can affect physical intimacy.
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1 month ago | 
epidermolysisbullosanews.com | Marisa Wexler |Andrea Lobo |Teresa Carvalho |Hawken Miller
Castle Creek Biosciences has secured $75 million in financing to support a Phase 3 trial testing its gene therapy to promote wound healing in people with dystrophic epidermolysis bullosa (DEB). The royalty financing agreement for Castle Creek‘s treatment, D-Fi, was led by Ligand Pharmaceuticals, which made a $50 million investment. Ligand said the investors will get “a high single-digit royalty” on worldwide sales of the treatment if it is ultimately brought to market.
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1 month ago | 
friedreichsataxianews.com | Jean Ker Walsh |Hawken Miller |Elizabeth Hamilton
Like many of us who get diagnosed with a scary illness, the question of “why me?” ran circles around my head. I chased that voice hard, wondering what I did to deserve Friedreich’s ataxia (FA). The answer I came to and always give that voice in my head is “You didn’t do anything. Disease is simply a part of life.”Now, I’ve added another simple twist: While your disease may not have happened for a reason, it can provide you with one.
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2 months ago | 
musculardystrophynews.com | Andrea Lobo |Marisa Wexler |Betty Vertin |Hawken Miller
Adolescents and young adults with Duchenne (DMD) or Becker muscular dystrophy (BMD) who have more siblings typically report being better prepared to transition to adult life, a new study has found. Findings show people with DMD or BMD had the most difficulty with activities of daily living, education, and employment when navigating adulthood, and fewer needed help with healthcare, housing and transportation, and independent life and autonomy.
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2 months ago | 
smanewstoday.com | Marisa Wexler |Hawken Miller |Margarida Maia
Scholar Rock is asking the U.S. Food and Drug Administration (FDA) to approve apitegromab, its experimental add-on therapy designed to boost motor function in people with spinal muscular atrophy (SMA).
