Madeline Collin, a 24-year-old activist with Gaucher disease, worries that patients like her will suffer deeply if Britain leaves the European Union (EU), as scheduled, at the end of this month. Collin is an expert on the subject. For her University of Bathdissertation, she analyzed Brexit’s long-term impact…
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Treatment with Spinraza (nusinersen) was able to resolve many severe and widespread skin lesions in a 7-month-old infant with spinal muscular atrophy (SMA) type 1, a case report shows. Although this is just…
With each new advance in medicine comes ethical dilemmas, from fertility treatments and newborn screening, to vaccinations, gene therapies and euthanasia. But rare diseases and the expensive therapies needed to treat them — particularly in an age of scarce economic resources — almost always entail “tragic choices,” warned Avraham Steinberg,…
Positive interim data from an ongoing Phase 1 trial in healthy volunteers supports the continued development of Scholar Rock’s investigational candidate SRK-015 as a treatment for spinal muscular atrophy (SMA). The company is now planning to launch a Phase 2 trial to assess the safety and efficacy…
While the Canadian Association of Drugs and Technologies in Health (CADTH) recommended that the spinal muscular atrophy treatment Spinraza should be made available to a broader population of patients, it said public funding should not cover patients older than 12 — a determination that the treatment’s developer Biogen called…
A drug appraisal committee of Britain’s National Institute for Health and Care Excellence (NICE) met in Manchester, England, for the third and final time March 6 to decide whether to recommend Spinraza (nusinersen) for the treatment of spinal muscular atrophy (SMA). Several hundred demonstrators organized by the nonprofit group…
Rare diseases affect about 30 million Americans — roughly the same number as those with type 2 diabetes. Yet only 5 percent of the estimated 7,000 rare diseases known to science have cures or treatments approved by the U.S. Food and Drug Administration (FDA). Raising awareness of those illnesses and highlighting…
A new gene therapy approach using RNA molecules called transfer RNAs (tRNAs) was able to repair a subset of mutations causing spinal muscular atrophy (SMA) and other inherited diseases in living muscle tissue of mice, a study shows. These genetic alterations, called nonsense mutations, alter the DNA…
Spinraza (nusinersen) has been approved by China’s National Medical Product Administration (NMPA) for the treatment of the most common form of spinal muscular atrophy (SMA). Marketed by Biogen and increasingly available worldwide, Spinraza is the first approved treatment in China for SMA, a disease that results in progressively debilitating…
The world’s biggest gathering of rare disease researchers, patient groups, pharmaceutical executives, and government officials is planned for April 10–12 in a Washington, D.C., suburb. Some 1,200 people have already registered to attend the World Orphan Drug Congress (WODC) USA 2019, set to take place at the Gaylord National Harbor…
