News

US Patient Groups Give Thumbs-Up to Rule Against Surprise Billing

The National Organization for Rare Disorders (NORD) is applauding the Biden administration for announcing a rule to protect consumers from surprise medical billing, in a joint statement with 26 other U.S. patient organizations. The interim final rule will implement patient protections required by the No Surprises Act. Surprise…

Novartis Stopping Work on Branaplam as Oral SMA Therapy

Novartis is stopping the clinical development of branaplam (LMI070), its experimental oral treatment for spinal muscular atrophy (SMA) being evaluated in a Phase 1/2 clinical trial. According to the company’s announcement, this “difficult” decision was based on the “rapid advancements in the SMA treatment landscape in recent years,”…

Early Work Supports Apitegromab’s Safety as SMA Muscle Therapy

A series of toxicology studies in rats and macaque monkeys confirmed the safety and tolerability of apitegromab, an investigational spinal muscular atrophy (SMA) therapy, supporting its ongoing assessment in patient trials, a study reported. The study, “Preclinical Safety Assessment and Toxicokinetics of Apitegromab, an Antibody Targeting…

SadBaby Crowdfunding Aims to Help SMA Families

SadBaby, an organization that raises donations to support children with spinal muscular atrophy (SMA), is launching a crowdfunding platform. The project, based on digital currency donations, intends to gather funds from supporters and investors to help families financially with the costly treatments associated with SMA. “SadBaby is doing…

Partnership Aims to Lower Out-of-Pocket Costs for Rare Disease Meds

AllianceRx Walgreens Prime, a specialty and home delivery pharmacy, is partnering with TailorMed, a healthcare technology company, to help lower out-of-pocket prescription costs for specialty pharmacy patients. Medications attained through specialty pharmacies are those used to treat rare and chronic conditions in the U.S., and are often extremely costly. For…

Adult-onset SMA Form, With VRK1 Mutations, Found in 2 Hispanics

Two mutations in the VRK1 gene were found in two unrelated Hispanic adults, with symptoms suggestive of an atypical form of adult-onset spinal muscular atrophy (SMA), according to a case report. While VRK1 mutations are mainly associated with pediatric-onset neuromuscular conditions marked by brain abnormalities and cognitive problems, these new cases…

COVID-19 Infection Turns Severe, Deadly in SMA Type 1 Child

A hospitalized 3-year-old with spinal muscular atrophy (SMA) type 1 died after being infected by the virus that causes COVID-19 and having a widespread inflammatory response — unusual in infected children — known as multisystem inflammatory syndrome, a case report found. This girl’s case “highlights the importance of close surveillance,…

Nominations Open for 2022 Eurordis Black Pearl Awards

Nominations are now open for the worldwide 2022 Black Pearl Awards from Eurordis-Rare Diseases Europe. The 12 award categories recognize individual advocates, policy makers, researchers, organizations, and companies who work to make a difference for the global rare disease community. The deadline for nominations is Sept. 10…

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