Author Archives: BNS Staff

Zolgensma, a first gene therapy for spinal muscular atrophy — and first for any chronic neurologic disease — is now an approved and potential “one-time” intravenous treatment for pre-symptomatic newborns through 2-year-olds with any type of SMA, the U.S. Food and Drug Administration (FDA) announced today, issuing an historic decision.

Reldesemtiv improved muscle strength for walking and respiration in a dose-dependent manner in spinal muscular atrophy (SMA) patients, data from a Phase 2 clinical trial show. As a fast muscle activator, reldesemtiv will not treat the underlying causes of SMA — a lack of the SMN protein to nourish muscles…

Taking care of a child with spinal muscular atrophy (SMA) significantly affects several aspects of  families’ lives, including finances, career choices, social life, and mental health, according to an Australian study. The study, “Financial, opportunity and psychosocial costs of spinal muscular atrophy: an exploratory qualitative analysis…

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…

Two specific mutations may help in identifying people who are carriers of spinal muscular atrophy (SMA) — those who do not have the disease but can pass it to children — and should be aware before starting a family, a study from Spain reports. The study, “Utility…

Throughout my life, I have required assistance with the most basic tasks. Things like scratching my head, getting myself a drink, or picking something up off the floor are just a few items on a never-ending list of impossibilities. Fortunately, there is now technology that can help…

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…

Nutrition has always been a challenge for my daughter, Ella. And, in turn, it is a challenge for my wife and me. Due to Ella’s disease, she has an increased amount of difficulty digesting long-chain fats (meats, cheeses, etc.) and she also has a hard time…

Over the next 20 years, the number of Americans with spinal muscular atrophy (SMA) will rise from 10,000 to nearly 15,000 — and 8,000 of those living with SMA today will still be alive come 2038, predicts Kenneth Hobby, president of Cure SMA. The Chicago-based nonprofit has been working…

A new way of restoring potentially adequate levels of survival motor neuron (SMN) — the protein missing in spinal muscular atrophy (SMA) — uses small molecules that target the structure of an intermediate player in this protein’s production. The study on this approach, “Targeting RNA structure in SMN2…