News

A new gene therapy approach using RNA molecules called transfer RNAs (tRNAs) was able to repair a subset of mutations causing spinal muscular atrophy (SMA) and other inherited diseases in living muscle tissue of mice, a study shows. These genetic alterations, called nonsense mutations, alter the DNA…

Spinraza (nusinersen) has been approved by China’s National Medical Product Administration (NMPA) for the treatment of the most common form of spinal muscular atrophy (SMA). Marketed by Biogen and increasingly available worldwide, Spinraza is the first approved treatment in China for SMA, a disease that results in progressively…

The world’s biggest gathering of rare disease researchers, patient groups, pharmaceutical executives, and government officials is planned for April 10–12 in a Washington, D.C., suburb. Some 1,200 people have already registered to attend the World Orphan Drug Congress (WODC) USA 2019, set to take place at the Gaylord National Harbor…

Scientists have created a new method to calculate the number of SMN1 gene copies present in individuals and identify possible spinal muscular atrophy (SMA) carriers — those who have only one copy of SMN1 and do not have the disease, but can still pass it to their children. The new…

Spinraza (nusinersen), an injectable medication approved two years ago by the U.S. Food and Drug Administration (FDA) to treat spinal muscular atrophy (SMA), is way overpriced. But so is its biggest potential competitor — Novartis‘ gene therapy Zolgensma — even though both have substantially helped children receiving either…

Citing the deteriorating health of a child with spinal muscular atrophy (SMA), a member of the British Parliament is pressing for the treatment Spinraza to be available in England. The medicine is under review by Britain’s independent, government-funded National Institute for Health and Care Excellence (NICE), which decides…

Endurance tests that capture upper and lower body fatigue in spinal muscular atrophy patients — across ages, from children to adults, and degrees of disease severity — was proposed in a new study. These tests, combined, are intended to help researchers and clinicians better evaluate and treat fatigue, so as…

About 100 scientists, researchers, pharmaceutical executives, and others will converge on Austria’s capital city early next month for the 2nd International Congress on Advanced Treatments in Rare Diseases. The March 4-5 meeting, to take place at the Hilton Am Stadtpark Vienna, features 27 speakers on a variety of disorders…

Treatment with Spinraza (nusinersen) benefits spinal muscular atrophy patients in terms of survival and quality of life of patients and caregivers, a study conducted in Sweden shows. However, Spinraza treatment was not considered cost-effective, as it exceed the willingness-to-pay threshold set by the Swedish…

The Revised Upper Limb Module (RULM) is better than the conventional Upper Limb Module (ULM) at assessing the arms’ function in a wider spectrum of patients with spinal muscular atrophy (SMA), a study found. The findings of the study, “Revised upper limb module for spinal muscular…