José Lopes, PhD,  managing science editor—

MRC Holland has launched a newborn screening test, called SALSA MC002 SMA Newborn Screen, that uses a blood sample to detect a specific SMN1 gene alteration that underlies spinal muscular atrophy (SMA). The first in the company’s SALSA Melt Assay product line, this assay can reliably, quickly and…

Patient enrollment is complete for AveXis’ Phase 1 clinical trial testing its gene therapy candidate AVXS-101 in patients with spinal muscular atrophy (SMA) type 2. “We are pleased that STRONG is now fully-enrolled and expect to report data from this study by May 2019,” David Lennon, PhD, the company’s president,…

AveXis‘ gene therapy  AVXS-101, now under review for approval to treat infants with spinal muscular atrophy (SMA) type 1 in the U.S. and Europe, may be truly “transformative,” said Kenneth Hobby, president of the patient advocacy group Cure SMA. Trial data in this patient group “shows that a one-time dose of…

The Institute for Clinical and Economic Review (ICER) will compare the clinical effectiveness and value of the only approved disease-modifying treatment for spinal muscular atrophy (SMA) —  Spinraza (nusinersen, by Biogen) — and an investigational gene therapy showing promise in advanced clinical trials — Novartis‘ AVXS-101,…

Spinal muscular atrophy (SMA) has been added to the Recommended Uniform Screening Panel (RUSP) for newborns in the United States, opening the door to newborn screening for SMA at the state level, the Muscular Dystrophy Association (MDA) reports on its website. The decision adding SMA to recommended screenings…

Exicure’s gene c prolongs survival, increases the amount of SMN proteins, and shows limited toxicity in a mouse model of the disease, study data show. The investigational compound is a spherical nucleic acid (SNA) formulation of nusinersen, the active substance in Spinraza, made by Biogen and approved to treat all…

Decreased levels of an enzyme lead to cellular dysfunction and neuronal degeneration involved in the development of spinal muscular atrophy (SMA), a new mouse study suggests. The study, “Neuronal activity regulates DROSHA via autophagy in spinal muscular atrophy,” was published in Scientific Reports. An enzyme called DROSHA regulates the…

Roche has stopped the development of olesoxime, a treatment candidate for spinal muscular atrophy (SMA) following disappointing 18-month results in an ongoing clinical study, the company announced. In a statement shared online through TreatSMA, Roche mentioned the most recent results of the OLEOS Phase 2 trial (…

Scholar Rock announced it has completed dosing a first group of healthy volunteers in its Phase 1 clinical study of SRK-015, a spinal muscular atrophy (SMA) treatment candidate. SRK-105 selectively blocks the activation of myostatin, a growth factor produced primarily in skeletal muscle cells that helps to maintain a healthy muscle…

Patients with spinal muscular atrophy (SMA) types 2 and 3 are at risk of malnutrition, altered metabolic rates, and changes in body composition, a study reports. The study, “Comprehensive nutritional and metabolic assessment in patients with spinal muscular atrophy: Opportunity for an individualized approach,” appeared in…