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People with rare diseases know that the right government policies can make a big difference in the quality of their own lives, and those of their caregivers. But most lawmakers aren’t experts in even one well-known disease — let alone the world’s estimated 7,000 rare disorders. So how does the…

Initially approved in the United States for Duchenne muscular dystrophy (DMD) patients age 5 and older, the corticosteroid Emflaza is now available for those as young as 2. The U.S. Food and Drug Administration (FDA) recently approved PTC Therapeutics’ supplemental New Drug Application (sNDA) for the…

The prevalence rate of Duchenne muscular dystrophy (DMD) in the United States has increased, largely due to better treatments that are helping patients live longer, while the number of new cases holds steady, a study reports. Touted as the first of its kind involving DMD, the Deerfield…

Lithium chloride — once used as table salt — improved muscle size and strength in mouse models of limb-girdle muscular dystrophy D1 (LGMD1) by blocking a protein that is overactive in some people with this disease. Inhibiting this protein may be a way of correcting muscle weakness in these…

Biotechnology company Vertex has acquired Exonics Therapeutics, which focuses on using gene-editing technologies to treat Duchenne muscular dystrophy (DMD) — a move that is being hailed as a positive step toward getting these therapies into clinics. Exonics was co-founded in 2017 by CureDuchenne, a nonprofit organization…

Researchers at the University of California in Los Angeles (UCLA) have been awarded a $175,000 grant from Parent Project Muscular Dystrophy (PPMD) to make CRISPR/Cas9 as safe and effective as possible as a gene therapy tool to treat Duchenne muscular dystrophy (DMD). According to the researchers, their planned CRISPR/Cas9 gene…

Santhera Pharmaceuticals has entered into a collaboration agreement with researchers from the Biozentrum of the University of Basel in Switzerland to develop a new gene therapy for treating people with LAMA2-deficient congenital muscular dystrophy (LAMA2 MD). LAMA2 MD, also known as merosin-deficient congenital…

The Institute for Clinical and Economic Review (ICER) issued a draft report raising serious concerns about the cost-effectiveness of Sarepta‘s exon-skipping therapies Exondys 51 (eteplirsen), and the investigational golodirsen, as well as the corticosteroid Emflaza (deflazacort; by PTC Therapeutics), for treating…

Santhera Pharmaceuticals has submitted a marketing authorization request to the European Medicines Agency (EMA) for Puldysa (idebenone) as a treatment for respiratory dysfunction in patients with Duchenne muscular dystrophy (DMD). The request is made as a conditional marketing authorization (CMA), which may be granted to medicines whose benefit…

Now that the U.S. Food and Drug Administration (FDA) has approved Zolgensma — the world’s first gene therapy for spinal muscular atrophy (SMA) — experts say a similar gene therapy to cure Duchenne muscular dystrophy isn’t far behind. On May 24, the FDA gave its long-awaited…