Spinraza RESPOND Trial Enrolling Children Not Helped by Zolgensma
Biogen is continuing to actively recruit patients for its Phase 4 RESPOND trial, which is evaluating the benefits of Spinraza (nusinersen) in infants and children with spinal muscular atrophy (SMA) who responded poorly to the gene therapy Zolgensma. Participants are...
Low Bone Density Puts SMA Children in China at Risk for Fractures
Children with spinal muscular atrophy (SMA) type 2 or 3 in China have lower bone mineral density — putting them at increased risk for bone fractures — compared with healthy children of the same age and sex, a study has found. Furthermore, SMA type 2 children had...
Uplifting Athletes Tackles Funding for Rare Disease Research, Awareness
Football and science seem to be disparate fields of play at first glance, but the nonprofit Uplifting Athletes is finding common ground by leveraging the popularity of college gridiron games to fund research for rare diseases. Its nearly two dozen chapters —...
Certain Abilities Decline in SMA Type 3 Children Unable to Walk
Lung function and upper limb abilities worsened over a two-year period in young people with spinal muscular atrophy (SMA) type 3 who were unable to walk (non-ambulatory), a U.K. study has found. At the time of the study, the approved, disease-modifying therapy...
Trial of Spinraza at High Dose in SMA Patients Who Used Evrysdi Planned
[Editor’s note: An earlier version of this story did not specify in its opening statement that Spinraza’s use in this proposed trial would follow Evrysdi’s use.] Biogen plans to launch a Phase 3b trial into the safety and efficacy of a higher dose of...
Blood NfL Levels May Mark SMA Severity, Therapy Efficacy in Very Young
Blood levels of neurofilament light chain (NfL) — a marker of nerve cell damage — in children and adolescents with spinal muscular atrophy (SMA) are significantly higher than those of age-matched healthy peers and associate with disease severity, a study found. NfL...
The Dangers of Pressure Ulcers For SMA Patients
People with SMA spend most of their time sitting in a wheelchair. Because of this, they are at an increased risk of developing pressure ulcers. This is due to the increased time spent with weight-bearing through a specific area, usually, a bony prominence, such as the...
New Institute Aims to Leave No Rare Disease Patient Behind
A newly launched non-profit institute is seeking to advance research, and the development of new therapies, for people with rare diseases — a patient community with some of the largest therapeutic needs, but one that is often left behind. Named the Institute for Life...
Variant in Androgen Receptor Might Be Useful in Treating SBMA
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. In the...
Cure SMA, Cytokinetics Renew Joint Efforts to Raise Funds and Awareness
Cure SMA and Cytokinetics have extended a partnership helping to heighten spinal muscular atrophy (SMA) education, awareness and fundraising, and t0 direct public policy in addressing community needs. To that end, the biopharmaceutical company will again be a National...
Group Focuses on Rare Disease Clinical Trial Participation
Participation in clinical trials exposes rare disease patients to financial, physical, and emotional pressures, according to the results of a patient focus group series. “Rare disease trial participants are running an endurance race they are highly motivated to...
Evrysdi Favored for Public Health Plans in Canada, Within Limits
A branch of the Canadian Agency for Drugs and Technologies in Health (CADTH) is recommending that Evrysdi (risdiplam) be added to public health plans across Canada, making it available to spinal muscular atrophy (SMA) patients at low or no cost between 2 months and 25...
