News

New Spinraza Delivery Technique for Patients With Spinal Deformities

For spinal muscular atrophy (SMA) patients with spinal deformities, administration of Spinraza (nusinersen) by a novel subcutaneous intrathecal catheter system improved upper limb function, a small study reports. This delivery technique, however, increased the risk of mechanical malfunction and infections, the researchers noted. The study, “…

Global Genes, Diversity Coalition Team Up to Advance Health Equity

Global Genes has partnered with the Rare Disease Diversity Coalition (RDDC) to advance health equity for rare disease patients and caregivers in underrepresented communities of color. “For rare disease patients, there are many challenges — and for people of color with a rare disease, these challenges are compounded…

Anxiety, Depression a Problem for School-age Patients in China

School-age children and adolescents with spinal muscular atrophy (SMA) in China experience a high rate of anxiety and depression, a questionnaire-based study suggests. “Professional psychological care [may be] included in the standard of care,” the researchers wrote, noting that a higher prevalence of depression was seen among students with…

Novartis Wraps Zolgensma Price, Availability Negotiations in Canada

Novartis has completed negotiations with the pan-Canadian Pharmaceutical Alliance (pCPA) regarding pricing and availability of Zolgensma (onasemnogene abeparvovec), its approved gene therapy for spinal muscular atrophy (SMA), for pediatric patients. With this negotiation completed, individual public drug plans in Canada will now make final decisions about the coverage…

Newborn Screening Pilot for SMA in Belgium Grows Into Official Program

A pilot newborn screening (NBS) program for spinal muscular atrophy (SMA) that started in Liège province has transitioned into an official, government-run program spanning Southern Belgium. Its architects described their experience, highlighting concepts that may be useful for creating similar programs, as well as problems that arose and how they…

Rare Disease Diversity Coalition Awards $600K to Combat Disparities

The Rare Disease Diversity Coalition (RDDC) awarded $600,000 in grants to ease the disparities faced by rare disease patients of color. These Impact Rare Disease Solution grants will go five RDDC steering committee working groups, which aim to identify problems for rare disease communities and advocate for solutions. The five…

Cure SMA Advocates for Better Wheelchair Storage for Air Travel

In a letter to a U.S. Department of Transportation Advisory Committee, Cure SMA called for better wheelchair handling and storage for people with spinal muscular atrophy (SMA) who travel by air. The patient advocacy organization shared its perspective on the challenges of airplane travel — from booking tickets to…

‘Rare’ Documentary in Kickstarter Campaign to Raise $45K by Oct. 28

A crowdfunding campaign aims to raise $45,000 to support “Rare,” a documentary film featuring the struggles and achievements of people living with rare diseases and their families. Sweis Entertainment and Digital Cave Media launched the campaign — allowing filmmakers to finish producing and to release the documentary — on Kickstarter.