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More therapies are now available for the 30 million or so people with rare diseases in the U.S. than ever before, and millions of dollars are being invested in clinical studies that will test new ways of evaluating — and advancing — potential treatments, including the use of natural history…

As a youth, Charles Deguire did everything he could to help three uncles with muscular dystrophy. One of them, Jacques Forest, had designed a clever makeshift arm that could pick up objects. He built it with whatever was available — including windshield wiper motors, parts of a desk lamp, and…

Mary Bodzo’s daughter Krista is now 27. Born with spinal muscular atrophy (SMA), her condition is stable, and Bodzo attributes that to the amino acid diet that Krista began at age 5. “We completely believe that changing her diet was what kept her stable,” Bodzo said in an interview with…

As Congress begins debate this week to overhaul the U.S. tax code, lawmakers should leave the Orphan Drug Act (ODA) — and the tax incentives it offers pharmaceutical companies to develop therapies for rare diseases — off the table. That’s the message being pushed by the National Organization for…

Three filmmakers are raising funds for a feature-length documentary about how science and the rare disease community’s needs came together to make Biogen’s Spinraza the first approved treatment for spinal muscular atrophy (SMA). Their month-long, $25,000 Kickstarter campaign ends in four days, at 2:48 p.m. Sunday, Oct. 22.

A Phase 2 clinical trial evaluating the efficacy and safety of RG7916 in children and adults with type 2 or 3 spinal muscular atrophy has advanced into a second and possibly pivotal phase. The study is part of a development program jointly led by PTC Therapeutics, Roche and the SMA Foundation. An interim analysis from the trial's first part demonstrated an exposure-dependent increase in the SMN protein, which is deficient in SMA patients. RG7916 continues to be well-tolerated at all doses and no drug-related safety findings led to any patients withdrawing from part one. RG7916 is drug that can be taken by mouth that impacts SMN2. Because SMA is caused by a defect in the SMN1 gene, the SMN2 gene has been explored as a potential replacement to guarantee the production of the SMN protein. RG7916 is also being investigated in babies with type 1 or infant-onset SMA in a Phase 2 trial called FIREFISH. This study, running at sites in the U.S. and Europe, is currently recruiting infants ages 1 to 7 months old. PTC Therapeutics and the SMA Foundation initially began working on this potential therapy in 2006, and Roche began to participate in 2011, when it acquired an exclusive worldwide license to this splicing program.  The U.S. Food and Drug Administration (FDA) designated RG7916 an orphan drug for the treatment of SMA in January 2017.

Kavita Krishnaswamy is so determined to gain independence for herself and others living with physical disabilities that she spends up to 20 hours a day designing devices. “After I get ready for caregivers and have something to eat, I start working, working, working,” she said in an interview with SMA…

Parents and caregivers of patients with spinal muscular atrophy (SMA) take great interest in orphan drug development, soaring healthcare costs, patient assistance programs and controversial “right-to-try” legislation — all issues on the agenda during the upcoming Rare Disease & Orphan Products Breakthrough Summit. “One of the chief challenges of 21st-century…

Spinraza (nusinersen) may provide more benefits to infants with spinal muscular atrophy (SMA) if the treatment is started early, Biogen reported during presentations at the ongoing 22nd International Congress of the World Muscle Society in St. Malo, France. But the treatment can also provide benefits to SMA patients…

Preliminary data from the Phase 2 SUNFISH trial show PTC Therapeutics' investigative drug RG 7916 increases production of the SMN (survival motor neuron) protein in types 2 and 3 spinal muscular atrophy patients. The results were presented by PTC Therapeutics at the 22nd International World Muscle Society (WMS) Congress in St. Malo, France, Oct. 3-7. Part 1 of the study assessed the safety, tolerability, effectiveness, and pharmacological profile of several doses of orally administered RG 7916 in both ambulatory and non-ambulatory SMA patients. Part 2 will include 150 non-ambulatory patients to determine the safety and effectiveness of the recommended dosage of RG 7916 selected from Part 1. An open-label extension study will follow. The development and production of RG7916 is part of a joint effort between PTC Therapeutics, Swiss multinational Roche, and the SMA Foundation. Earlier this year, RG7916 was granted orphan drug and fast track designation by the FDA for the treatment of patients with SMA. PTC Therapeutics created an SMA research program in 2006 in partnership with the SMA Foundation to pursue a therapy for the devastating disease. In November 2011, Roche obtained an exclusive worldwide license to the PTC/SMA Foundation program studying alternative splicing (synthesis of different protein variants from the same messenger RNA sequence) of the SMN2 gene.