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Understanding Thymidine Kinase 2 Deficiency
Thymidine kinase 2 deficiency (TK2d) is a life-threatening form of mitochondrial myopathy. These diseases affect mitochondria — the energy factories of our cells — leading to muscular problems. TK2d is very rare, affecting fewer than 2 per 1 million people worldwide. Yet in a milestone for mitochondrial myopathies, the US Food and Drug Administration (FDA)…
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Expert Tips for Handling an Insurance Claim Denial for Gene Therapy
When Alison Joseph and William Small’s two youngest sons were diagnosed with Duchenne muscular dystrophy (DMD) in 2017, they were told there were no treatment options. The Small Family “Because of their specific mutation, they didn’t qualify for exon-skipping or gene therapy trials. We were just doing standard-of-care steroids, hoping for something new,” Alison says.…
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Considering a Clinical Trial? 4 Things to Know Before You Enroll
For people living with neuromuscular diseases, few things bring more hope than progress in research, whether it leads to a new therapy or a deeper understanding of a diagnosis. Each advancement represents years of scientific work — and the dedication of those who volunteer for clinical trials. While exciting, enrolling in a study is a…
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What Is a VUS? Variants of Unknown Significance in Genetic Testing and Why They Matter
Chris Weihl, MD, PhD New genetic testing technologies are improving the diagnostic journey for many people with neuromuscular diseases. Now, doctors can test 100 or more genes simultaneously when they suspect a patient may have a muscular dystrophy or other inherited neuromuscular disorder. According to Chris Weihl, MD, PhD, a neurologist and Director of the…
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Roche stopping bone health program in Duchenne
Roche has decided to stop recruitment for their Phase 2 SHIELD DMD study of satralizumab in Duchenne, citing the decision was not due to any new efficacy or safety issues, but rather due to feasibility concerns with meeting regulatory requirements, as well as recruitment and study completion deadlines. Please see the community letter for more information, including next steps for…
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I have new criteria for when my sons participate in DMD clinical trials
As a caregiver to three sons living with Duchenne muscular dystrophy (DMD) and a mother to four other children, I have learned a lot over the years. Today, I want to use that knowledge and experience to give back to the community. Being a part of the Duchenne community has been like a buoy to…
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Roche Announces Termination of Phase 2 SHIELD DMD Study
We are disappointed to learn the news that Roche has made the difficult decision to terminate their Phase 2 SHIELD DMD study evaluating satralizumab for bone health in Duchenne. According to Roche, this decision was reached after careful consideration of the program’s path forward and reflects a combination of factors, including study timelines and the…
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New gene therapy for OPMD shows lasting success in small US trial
Four people with oculopharyngeal muscular dystrophy (OPMD), a disease type marked by swallowing difficulties, experienced long-lasting improvements in their ability to swallow after receiving the gene therapy candidate BB-301 in an ongoing clinical trial. That’s according to an update from therapy developer Benitec Biopharma, which announced new data from the small trial (NCT06185673), which is…
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MDA Ambassador Guest Blog: The Secret to Navigating Life with a Rare Disease? Say Yes.
Charlotte is 11 years old and lives with LGMD2C, which was diagnosed when she was two and a half. When she grows up, Charlotte wants to get a law degree and become President so that she can make sure rare disease research is funded. Her biggest hope in life is that rare diseases are prioritized,…
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How art fosters a sense of belonging in my life with Duchenne
On Jan. 31, I visited the former Supreme Court Foyer at the National Gallery Singapore (NGS) for the final Artsplaining session of Light to Night Singapore 2026. NGS is a leading visual arts museum with the largest collection of Southeast Asian modern art. Artsplaining is its program designed to make the arts accessible to everyone.…
