News

A program offered through a partnership between Invitae Corporation and Biogen offers free genetic testing to infants, children and others with clinically diagnosed spinal muscular atrophy (SMA) or suspected of having the disease. The program, SMA Identified, aims to increase access to genetic testing for the SMA community, so…

Finding treatments and potential cures for rare diseases is crucial, but so is the quality of patients’ lives — a rather nebulous term that means different things to different people. “Recently, there’s been much more of a focus on Quality of Life (QoL) issues, real-world evidence and patient-reported outcomes,” said…

Cytokinetics and Cure SMA have expanded their existing partnership to increase education, awareness and fundraising for spinal muscular dystrophy (SMA). As a National Platinum Partner for 2018, Cytokinetics will support several of Cure SMA’s initiatives at both local and national levels to help further research of potential…

Cure SMA will host the world’s largest regular gathering on spinal muscular atrophy next month in Dallas, bringing together leading SMA researchers and clinicians, as well as families living with the disease. The 2018 Annual Cure SMA Conference is set for June 14-17 at the Hilton Anatole Hotel. Its first three days…

Two years after approving it, the 28-member European Union will begin enforcing its General Data Protection Regulation (GDPR) — a tough new law that aims to protect the EU’s 512 million citizens, including rare disease patients, from having their medical records misused, sold, or subject to extortion by hackers, third…

Results of an exploratory Phase 2 study evaluating the effectiveness of reldesemtiv (CK-2127107) for a first time in patients with spinal muscular atrophy (SMA) will be presented at the Cure SMA annual conference set for mid-June in Texas. Reldesemtiv is a next-generation fast skeletal muscle troponin activator (FSTA) being developed by Cytokinetics…

If 8-year-old Branden Lim had been born in Australia instead of Malaysia, his parents soon would have no problem obtaining Spinraza (nusinersen) to treat his spinal muscular atrophy (SMA). Australian Health Minister Greg Hunt recently announced that, effective June 1, his ministry would add the Biogen therapy to its Pharmaceutical…

The National Organization for Rare Disorders (NORD) will celebrate the 35th anniversary of both the 1983 Orphan Drug Act and NORD’s founding at a dinner tonight in Washington, D.C. The 2018 Rare Impact Awards, to be held at the Andrew W. Mellon Auditorium, will be webcast via Facebook for those…

Patients with spinal muscular atrophy (SMA) types 2 and 3 are at risk of malnutrition, altered metabolic rates, and changes in body composition, a study reports. The study, “Comprehensive nutritional and metabolic assessment in patients with spinal muscular atrophy: Opportunity for an individualized approach,” appeared in…

The European Union isn’t doing enough to protect the 30 million or so people with rare diseases who live in its 28 member countries, officials meeting last week in Vienna said. More than 900 people from 58 nations attended the 9th European Conference on Rare Diseases & Orphan Drugs (ECRD), held…