Clinical Trial Alert: Phase 1/2 Study of AT845 in Late-Onset Pompe Disease

Researchers at Audentes Therapeutics, an Astellas company, are seeking individuals living with late-onset Pompe disease (LOPD) to participate in a phase 1/2 study to confirm safety and efficacy of the investigational drug AT845. This gene-replacement therapy may offer the benefit of long-term improvement of motor and respiratory function and quality of life in adults living with . . .

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MDA Advocacy’s 2020 Year in Review

There’s no doubt 2020 has been a challenging year, but the commitment and passion of our MDA advocates have truly been a bright spot. As we close out the year, let’s recap your amazing accomplishments. Access to care and therapies from day one Thanks to the actions of advocates, together we made sure the lifesaving . . .

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Why Attending MDA’s Upcoming Virtual Pompe Disease PFDD Meeting is Vital

Ryan Colburn is a rare disease patient with a professional background in engineering and operations management, spending portions of his career working on racecars, airplanes, and rockets. Diagnosed with Pompe disease in 2015, he has spent the time since learning about rare disease topics including research, advocacy, and drug development to better understand how to . . .

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Hacking COVID: MDA Staff Edition

In April, MDA fielded a survey to ask its community how COVID-19 was impacting their lives. We heard your responses — anxiety, questions, hope — and wanted to know more. In this six-part blog series, Hacking COVID, people from MDA’s community, all living with neuromuscular diseases, shared how they’ve altered their day-to-day lives, how they’ve . . .

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World Muscle Society Roundup: Clinical Trial Results of Treatments in Development for DMD, XLMTM, SMA, and Pompe Disease

Several biotech and pharma companies presented interim results at the 24th Annual Congress of the World Muscle Society (WMS) held earlier this month in Copenhagen, Denmark. This roundup covers a few of these updates. Catabasis Pharmaceuticals presented positive results from its phase 1/2 MoveDMD trial and open-label extension with edasalonexent in boys with Duchenne muscular . . .

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Clinical Trial Alert: Amicus Therapeutics Seeks Participants for a Phase 3 Late-Onset Pompe Disease Study

Researchers at Amicus Therapeutics are looking for participants (age 0-18) with late-onset Pompe disease (LOPD) to participate in a phase 3 study. The goal of the study is to evaluate the safety and efficacy of ATB200/AT2221, which researchers hope may improve muscle function and respiratory function compared to the standard of care. Participants will receive the . . .

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US House Passes Newborn Screening Reauthorization

Thanks in large part to the work of MDA advocates across the country, the US House unanimously moved yesterday to pass the Newborn Screening Saves Lives Reauthorization Act (HR 2507). Once enacted, this law will reauthorize the national newborn screening program for five years and make additional investment in order to modernize and make improvements . . .

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Congress is Considering a Law to Strengthen Newborn Screening: Help MDA Promote its Passage

On May 2, Reps. Lucille Roybal-Allard (CA-40), Mike Simpson (ID-02), Katherine Clark (MA-05), and Jaime Herrera-Beutler (WA-03) introduced the Newborn Screening Saves Lives Reauthorization Act of 2019, a key piece of legislation that fights to eliminate preventable newborn deaths and stave off the onset of symptoms associated with severe disabilities, including neuromuscular conditions. Read MDA’s . . .

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