Peer Exchange


Advances in the Treatment of Spinal Muscular Atrophy

Crystal Proud, MD, leads a discussion on spinal muscular atrophy, including the signs and symptoms that lead to diagnosis.

Nancy L. Kuntz, MD, outlines the historical phenotypes for spinal muscular atrophy and explains that there is a spectrum of disease within these categories. 

Experts discuss the importance of newborn screening for spinal muscular atrophy and how it is mandated differently across states.

John Brandsema, MD, offers insight on prenatal tests and genetic testing for the SMN1 and SMN2 genes. The SMN2 copy number is the best prognostic marker. 

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.

Key opinion leaders stress the importance of educating primary care physicians on the diagnosis of spinal muscular atrophy to help to decrease the delay in diagnosis.

 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.

Data from the STR1VE phase 3 clinical trial of onasemnogene abeparvovec-xioi in children less than 6 months of age are outlined.

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.

A discussion about nusinersen, which acts on the SMN2 gene, and the significance of the results of the ENDEAR clinical trial, where 50% of patients were defined as responders.

The longer-term safety data in the ENDEAR-SHINE and CHERISH-SHINE clinical trials are discussed as well as the importance of counseling patients on treatment expectations and adverse events.

The phase 2 NURTURE trial of pre-symptomatic, genetically diagnosed infants treated before 6 weeks of age is discussed.

Experts discuss the FIREFISH clinical trial of an oral drug in development, risdiplam, for infantile spinal muscular atrophy.  

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.
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