Patricia Inacio, PhD,  science writer—

Apitegromab, Scholar Rock’s muscle-directed therapy for spinal muscular atrophy (SMA), was granted a fast track designation by the U.S. Food and Drug Administration. “We are delighted to receive Fast Track designation and look forward to working closely with the FDA towards our aim of establishing apitegromab as…

The EveryLife Foundation for Rare Diseases is accepting applications for a scholarship program that aims to help adults with a rare disease pursue personal goals through training and education. For a second year, the #RAREis Scholarship Fund — supported by Horizon Therapeutics – will award 35 one-time scholarships, each…

Australia is expanding access to Spinraza (nusinersen) to children and infants with severe spinal muscular atrophy (SMA) who have not yet developed symptoms, a period when the medicine is likely to benefit patients the most. Effective Dec. 1, Biogen’s Spinraza will be added to the Pharmaceutical Benefits Scheme (PBS) for the treatment…

A new panel of four safety biomarkers to assess acute drug-induced skeletal muscle injury in Phase 1 clinical trials has received a positive response from the U.S. Food and Drug Administration (FDA). The new biomarker panel is particularly important for companies developing therapies for patients with neuromuscular diseases, including…

Asuragen’s diagnostic test for the analysis of genes associated with spinal muscular atrophy (SMA) — called AmplideX SMA Plus Kit — was given the European CE mark, approving it for commercial use, the company announced. The designation means the AmplideX kit complies with the European…

The number of treatments for children with rare diseases has grown over the past decade, according to a new study. However, despite the increase, nearly 7,000 rare diseases are still lacking treatment. And federal incentives to boost treatment development for these rare diseases have primarily focused not on creating new…

Preclinical and clinical data on SRK-015 continue to support the therapy’s potential to treat spinal muscular atrophy (SMA), developer Scholar Rock said in a press release. Recruitment for a Phase 2 clinical trial evaluating the efficacy and safety of SRK-015 in children and adults with SMA…

Asuragen has launched the AmplideX PCR/CE SMN1/2 Plus Kit, which according to the company provides the most comprehensive analysis of genes associated with spinal muscular atrophy (SMA) on the market and does so in a matter of hours. SMA is caused by mutations in the SMN1 gene,…

BillionToOne’s non-invasive prenatal blood test, which helps diagnose hereditary and rare diseases in fetuses, is now available in Germany, Austria, Switzerland, and the Netherlands, the company announced. The test, which was previously only available in the United States, will be commercialized by Eluthia in these four European countries.

The diagnostics company BillionToOne has launched its first product for commercial and clinical use — a blood test designed to help diagnose hereditary and rare diseases in fetuses. Called UNITY, the test requires only a small sample of the mother’s blood to determine whether the baby will be at high…