Expert neurologists detail some motor evaluation tools for spinal muscular atrophy, including the CHOP INTEND, Hammersmith, and Bayley tests. The use of these tools varies depending the on the patient population.
Nancy L. Kuntz, MD, highlights that in patients with spinal muscular atrophy, the volume of air is insufficient due to weak respiratory muscles, and pulmonary care is very important for these patients.
Julie Parsons, MD, describes some GI complications in patients with spinal muscular atrophy, such as aspiration pneumonia and constipation, and stresses the importance of a healthy diet to meet caloric demands and hydration to decrease the possibility of kidney stones.
John Brandsema, MD, discusses the importance of multidisciplinary care for patients with spinal muscular atrophy, including neurologists, primary care providers, physical therapists, and social workers.
Crystal Proud, MD, leads a discussion on the recent approval of onasemnogene abeparvovec (Zolgensma) the first neuromuscular gene treatment for spinal muscular atrophy, and highlights data from the phase 1 START clinical trial.
The SPR1NT phase 3 clinical trial of onasemnogene abeparvovec-xioi in children less than 6 weeks of age is discussed, and this trial was pivotal in pushing the concept of newborn screening for spinal muscular atrophy. A recently released integrated safety report is discussed as well.
Experts discuss the SUNFISH clinical trial of an oral drug in development, risdiplam, for type 2/3 spinal muscular atrophy in patients 2 to 25 years of age. The JEWELFISH clinical trial of risdiplam in patients 6 months to 60 years of age is also reviewed.