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

Long-Term Follow Up of Patients Receiving Novel Gene Therapy for SMA Type I 150 150 Abbie Roth

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

Citation:

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)

About the author

Abbie Roth, MWC, is a passionate communicator of science. As the managing editor for science communication at Nationwide Children’s Hospital, she shares stories about innovative research and discovery with audiences ranging from parents to preeminent researchers and leaders. Before coming to Nationwide Children’s, Abbie used her communication skills to engage audiences with a wide variety of science topics. As a subject-matter expert, she developed content for science education materials for McGraw-Hill Education, bringing science concepts to life for middle and high school aged students. She also provided technical editing for manuscripts spanning the American Chemical Society journal portfolio, in addition to serving as production lead for ACS Synthetic Biology. Abbie earned her BS in Life Sciences at Otterbein University while working at the Tan & Cardinal newspaper and minoring in Public Relations. She is a Medical Writer Certified®, credentialed by the American Medical Writers Association.