Author Archives: Marisa Wexler MS

A naturally occurring form of the androgen receptor protein — which scientists have named AR45 because of its size — may be useful for treating spinal and bulbar muscular atrophy (SBMA), a rare form of adult-onset spinal muscular atrophy, a new study suggests.

The first-ever case of someone in Romania with spinal muscular atrophy (SMA) caused by a mutation in the ASAH1 gene was described in a recent report. The study, “Clinical features and genetics in non-5q spinal muscular atrophy caused by acid ceramidase deficiency,” was published in the …

The U.S. Food and Drug Administration (FDA) has lifted its partial hold on clinical trials of OAV-101 (AVXS-101), an investigational intrathecal gene therapy for the treatment of spinal muscular atrophy (SMA). The agency put a hold on the open-label clinical trial STRONG in 2019, citing concerns seen in…

Biochemical modifications made to antisense oligonucleotides — molecules that are the basis of an existing therapy for spinal muscular atrophy (SMA) — may improve this and similar treatments, new research suggests. More work, which is underway, is needed as the biochemical changes seen to possibly offer an advantage were more…

Eurordis opened a campaign, called Rare 2030 Action, that is seeking to establish a European action plan for rare diseases to ensure that none of the 30 million people in Europe living with rare diseases are left behind by the start of a new decade. As part of…

Note: This story was updated on June 21, 2021, to clarify that these genetic tests are after a baby’s birth, and the Early Check study showed the importance of parents consenting prenatally to testing. As of this May, all babies born in North Carolina are now being tested at…

A decision from England’s National Institute for Health and Care Excellence (NICE) will make Spinraza (nusinersen) available to people with spinal muscular atrophy (SMA) type 3 who are unable to walk. In England, Spinraza is available through a managed access agreement (MAA) between NICE, the National Health…

Newborn screening can aid in the early diagnosis and prompt treatment of spinal muscular atrophy (SMA), which can lead to better clinical outcomes, according to a German study. “We strongly recommend that newborn screening for SMA ought to become universal in countries that provide SMA-specific medication,” the study’s researchers…

The European Alliance for Newborn Screening for Spinal Muscular Atrophy is calling on all European states to introduce routine screening of all newborns for spinal muscular atrophy (SMA) by 2025. The recently-formed Alliance, which is composed of European patient organizations, academics, and the pharmaceutical industry, published its first white…

Treatment with Spinraza (nusinersen) may cause some alterations in the cerebrospinal fluid — that which surrounds the brain and spinal cord — in adults with spinal muscular atrophy (SMA), a study reported. Changes recorded, like in total protein, were “mild” and without affect on treatment tolerability, the researchers wrote,…