Long-Term Follow Up of Patients Receiving Novel Gene Therapy for SMA Type I

April 19, 2019
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Spinal muscular atrophy type 1 (SMA1) is a rare neuromuscular disease in which 75 percent of affected children die or require permanent ventilation by 13.6 months. Researchers recently published the long-term outcomes of patients who received the investigational drug AVXS-101 – an adeno-associated virus serotype 9 mediated gene replacement therapy.

Twelve children aged 1 to 8 months were treated and followed for 24 months. Longer-term follow up results are included as available for motor milestones.

Notably, for motor milestones, the patient who was the oldest at treatment achieved fewer milestones than those treated at younger ages.

Treatment of SMA1 with gene therapy has the potential to transform the disease course, in addition to improving patient and caregiver quality of life. Reduced use of ventilation and nutrition support, as well as decreased hospitalization, could significantly decrease the overall health care utilization of these patients." – Richard Shell, MD, section chief of Pulmonary Medicine at Nationwide Children's


Al-Zaidy S, Pickard AS, Kotha K, Alfano LN, Lowes L, Paul G, Church K, Lehman K, Sproule DM, Dabbours O, Maru B, Berry K, Arnold WD, Kissel JT, Mendell JR, Shell R. Health  outcomes in spinal muscular atrophy type 1 following AVXS-101 gene replacement therapy. Pediatric Pulmonology. 2019;54:179-185.

Image credits: Adobe Stock (header); Nationwide Children’s (infographic)