By Annemieke Aartsma-Rus Givinostat has been approved for the treatment of Duchenne muscular dystrophy patients aged 6 years of age and older by the FDA and evaluation by the EMA is ongoing. In this document, I try to explain how givinostat works. dystrophin and Duchenne Duchenne is caused by a lack of dystrophin. Muscles […]
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Prof. Annemieke Aartsma-Rus is taking on a challenge by reading and commenting on a paper a day. See below the overview of June 2024.
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In today’s #apaperaday, Prof. Aartsma-Rus reads and comments on the paper titled: Patient- and caregiver-reported impact of symptoms in Duchenne muscular dystrophy Paper Rosero et al from Muscle & Nerve on the patient and caregiver reported impact of symptoms in Duchenne. DOI 10.1002/mus.28102 Authors wanted to investigate which symptoms pose the largest burden on Duchenne […]
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The Robert Jones and Agnes Hunt Orthopaedic Hospital in Oswestry is the first UK center to receive the accreditation for pediatric and adult care.
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In today’s #apaperaday, Prof. Aartsma-Rus reads and comments on the paper titled: Potential limitations of microdystrophin gene therapy for Duchenne muscular dystrophy Today’s pick is a mouse study to compare 3 micro-dystrophins that are currently in clinical development for Duchenne by Hart et al in JCI insight DOI 10.1172/jci.insight.165869 Gene therapy aims to provide a […]
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In today’s #apaperaday, Prof. Aartsma-Rus reads and comments on the paper titled: Perspectives on and Experiences With Bullying From Youth With Neuromuscular Conditions A pick about bullying in patients with neuromuscular diseases by Chatur et al in Journal of Child Neurology. Doi 10.1177/08830738241257985. Sadly patients with visible physical disabilities are more likely to be bullied. […]
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In today’s #apaperaday, Prof. Aartsma-Rus reads and comments on the paper titled: Immune-mediated myositis following gene therapy for Duchenne muscular dystrophy: a case report Today’s pick from journal of neurology by Iannaccone et al: a case report of a Duchenne patient who had an auto-immune response to micro-dystrophin after elevidys treatment. DOI: 10.1007/s00415-024-12431-z AAV gene […]
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In today’s #apaperaday, Prof. Aartsma-Rus reads and comments on the paper titled: Mitochondria and Reactive Oxygen Species: The Therapeutic Balance of Powers for Duchenne Muscular Dystrophy The pick is from @Cells_MDPI by Casati et al, a review on mitochondria and reactive oxygen species (ROS) in Duchenne DOI: 10.3390/cells13070574 Dystrophinopathies are caused by lack of dystrophin […]
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DGM Germany joins the World Duchenne Organization as member. We wish a warm welcome to the Deutsche Gesellschaft für Muskelkranke e.V.
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In today’s #apaperaday, Prof. Aartsma-Rus reads and comments on the paper titled: Transcriptomic gene signatures measure satellite cell activity in muscular dystrophies Today’s pick is from @iScience_CP by Engquist et al on gene signatures of muscle satellite cells doi 10.1016/j.isci.2024.109947 Muscle fibers grow and repair themselves with satellite cells. These are inactive stem cells […]
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Parent Project Muscular Dystrophy (PPMD) welcomes the recent announcement by the United States Food and Drug Administration (FDA) of the “Rare Disease Innovation Hub”. This initiative marks a pivotal moment in the journey towards better...
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Capricor Therapeutics today announced additional positive 3-year safety and efficacy results from the company’s ongoing HOPE-2 open label extension (OLE) study of deramiocel (CAP-1002) for the treatment of Duchenne. CAP-1002 is the company’s novel cell...
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Leading into PPMD’s 30th Annual Conference, PPMD is excited to host a professional meeting focusing on Becker muscular dystrophy care. Over the course of two days, attendees from across subspecialties, academic medical centers, and industry...
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REGENXBIO has announced it initiated enrollment in a new cohort of patients ages 1-3 in its Phase I/II AFFINITY DUCHENNE® trial. The trial is evaluating the safety and efficacy of RGX-202, an investigational gene therapy...
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PPMD is excited to share that the FDA has made the decision to expand the labeled indication for ELEVIDYS, a micro-dystrophin gene therapy used to treat people with Duchenne muscular dystrophy, to include individuals at...
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Anyone living with Duchenne muscular dystrophy knows that there are extra steps to EVERYTHING. Traveling with medical equipment requires planning and organization. PPMD’s Adult Advisory Committee (PAAC) has put together several resources with tips that...
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On Saturday, June 8th, PPMD convened a vital meeting of physicians, physical therapists, genetic counselors, data scientists, and other key opinion leaders to discuss the development of data infrastructure and care planning for newborns that...
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Cranbury Pharmaceuticals, a subsidiary of Tris Pharma, today announced the U.S. Food and Drug Administration (FDA) approved the Abbreviated New Drug Application (ANDA) for the first generic version of Emflaza® oral suspension (deflazacort) for the...
The post Cranbury Pharmaceuticals (Tris Pharma) Receives FDA Approval for First Generic Version of Emflaza® (deflazacort) for Duchenne appeared first on Parent Project Muscular Dystrophy.
PPMD is excited to share that at our 30th Annual Conference, taking place June 27-29, 2024, in Orlando, Florida, the PPMD Care team will host a “DIY Care Binder” station where families can create a...
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PPMD is deeply disappointed to share that Pfizer Inc. announced today that CIFFREO, a Phase 3 randomized, double-blind, placebo-controlled study evaluating the company’s investigational mini-dystrophin gene therapy, fordadistrogene movaparvovec, in ambulatory patients with Duchenne did...
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