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…
AveXis has filed a first request for approval of its highly-anticipated gene therapy, AVXS-101, to treat infants with spinal muscular atrophy (SMA) type 1 with the U.S. Food and Drug Administration, CureSMA announced on its website. Similar applications were filed with regulatory authorities in the European Union and Japan, AveXis said in…
In the past two years, I’ve held seemingly every possible position on Spinraza (nusinersen). I went from elation in knowing that a treatment for SMA existed to being so fed up with the process that I never wanted to hear the word Spinraza again. The current situation is…
Researchers in Japan have developed a non-invasive test to measure levels of the SMN protein using cells circulating in the blood of spinal muscular atrophy (SMA) patients. The test is a potentially useful tool in monitoring treatment response. The results of the study, “A new biomarker candidate for spinal muscular…
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…
A pathway known as the cell’s “cleaning system” may be a promising target of alternative approaches to treating spinal muscular atrophy (SMA) — ones that look beyond the disease-causing mutation. This possibility is the focus of the perspective article, “Autophagy inhibition: a…
The first patient has been dosed in the Phase 3 clinical trial of AveXis’ gene therapy candidate AVXS-101 in presymptomatic infants with spinal muscular atrophy (SMA) types 1, 2 and 3, the company announced. SPR1NT (NCT03505099) is an open-label, global study evaluating a one-time, intravenous AVXS-101 treatment in…