Researchers have successfully generated stable lines of spinal cord neural stem cells (NSCs), which, when transplanted into a rat model of spinal cord injury, were able to become multiple types of neurons and drive spine regeneration. Derived from human embryonic stem cells (hESCs), these induced cells also included progenitors that give rise…
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Preliminary data from two ongoing clinical trials into risdiplam (RG7916) — a potential oral therapy for all types of spinal muscular atrophy — support its considerable promise, with treated babies now able to “roll, sit, kick … things that they [otherwise] never do,” the CEO of PTC Therapeutics said in…
With the U.S. midterm elections now less than two weeks away, patient advocacy groups are solidly focused on a range of hot-button issues, from the Orphan Drug Tax Creditand affordable health insurance to future funding for rare disease research. Yet “whether Democrats take over the House or Senate, or…
Specific patterns of DNA modifications in the DYNC1H1 gene are directly associated with spinal muscular atrophy severity in different forms of the disease. These findings could be the first step toward the identification of new SMA modifiers. The study, “DYNC1H1 gene methylation correlates with severity of spinal muscular…
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,…
Novartis Pharmaceuticals‘ investigational compound BVS857 significantly improved muscle volume in patients with X-linked type spinal muscular atrophy (SMA) over a short period of time, Phase 2 clinical results show. However, the compound failed to improve muscle strength and function. These findings were reported in the study, “…
Pharmacologist C. Frank Bennett, PhD, and biochemist Adrian R. Krainer, PhD, have been awarded a prestigious 2019 Breakthrough Prize in Life Sciences for their role in the development of Spinraza (nusinersen), a therapy for spinal muscular atrophy (SMA). Bennett, of Ionis Pharmaceuticals, and Krainer, of Cold Spring Harbor…
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…
