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25 Years Later: Reflecting on the 2001 MD-CARE Act Hearing and Where We Are Now
On Thursday, February 26, advocates, clinicians, patient leaders, and policymakers came together for a powerful Senate Special Committee on Aging hearing titled “From Regulator to Roadblock: How FDA Bureaucracy Stifles Innovation.” This conversation served as a reminder of how far the muscular dystrophy and rare disease community has come, and the work still to be…
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Dreaming of solutions to the Olympic-sized challenges of FSHD
My family and I have never been athletically inclined. Our talents lie in other areas. That being said, we’ve enjoyed watching the recent Winter Olympics together. As a blind person, I couldn’t see the skiers, skaters, sliders, riders, jumpers, and other athletes in action, but the commentators provided descriptions that made the events accessible to…
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Simply Stated: Updates in X-Linked Myotubular Myopathy (XLMTM)
X-linked myotubular myopathy (XLMTM) is a rare, inherited neuromuscular condition that primarily affects infant males. It is one of the most severe forms within a group of disorders called centronuclear myopathies, which are characterized by distinctive muscle cell changes seen by biopsy and profound muscle weakness that begins early in life. It is estimated that…
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Roche halts development of satralizumab for DMD bone health
Roche has decided to stop developing satralizumab for bone health in Duchenne muscular dystrophy (DMD), the company announced in a community letter. Patients already enrolled in the SHIELD DMD Phase 2 trial (NCT06450639) may continue on the study until the six-month bone mineral density collection, expected in the second half of the year. Those currently…
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Quest Podcast: Fashion for Every Body: Izzy Camilleri on Style, Function, and Inclusion
In this Quest Podcast episode, we chat with internationally recognized fashion designer Izzy Camilleri, a true pioneer in adaptive fashion. She shares how her successful career in high-end fashion took a transformative turn when she began designing clothing for people with disabilities and partnered with Silverts—work that helped ignite today’s adaptive fashion movement. Izzy shares…
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Progress Now: Research Updates and Breakthroughs
Amyotrophic lateral sclerosis (ALS) Phase 1 Clinical Trial: Recruiting This study, called LUMINA, is testing an investigational therapy, called AMX0114, in adults with ALS. The main goal is to learn about safety and how well the treatment is tolerated. The study will also look for early signs that the therapy may help people with ALS.…
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An essay on choosing hope in life with a progressive, degenerative disease
I hate muscular dystrophy. In my darker moments, I want to scream into the void of the universe — until I remember that I can’t scream anymore. In crowded spaces, others often can’t hear me, so I remain quiet. This goes against every fiber of my being; everyone who knows me knows how much I…
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Young Leader Living with Muscular Dystrophy Champions Aiming High and Setting Goals
Harvard graduate Caroline LeMay’s education helped pave the way on her quest for success. Now, she is dedicating her career to increasing access to education for others. Caroline LeMay, her husband, and their dogs The 27-year-old already has an impressive résumé, with positions as a financial analyst for J.P. Morgan Markets, a special advisor to…
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A Guide to RNA-Targeted Therapies
A Guide to RNA-Targeted Therapies The post A Guide to RNA-Targeted Therapies appeared first on Quest | Muscular Dystrophy Association.
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RNA Therapies Offer Keys to Treating Genetic Neuromuscular Diseases
While DNA holds our genetic code, RNA plays a vital role in gene expression. Researchers are discovering new ways to use RNA to correct genetic changes that cause diseases. For example, in type 1 myotonic dystrophy (DM1), a variety of symptoms all stem from a single source: incorrectly produced, toxic proteins. As bricks are to…
