A phase 1 trial to test the safety and efficacy of gene transfer therapy in infants with type 1 spinal muscular atrophy (SMA) who are 9 months old or younger has opened at Nationwide Children's Hospital in Columbus, Ohio, under the direction of neurologist Jerry Mendell.
Trial participants will be randomly assigned to receive either a low dose or a high dose of genes for the SMN protein, which is deficient in SMA-affected nerve cells. The SMN genes will be encased in type 9 adeno-associated viral shells (AAV9 "vectors") and delivered as a one-time intravenous injection.
MDA supports related research
Mendell, who directs the Center for Gene Therapy at Nationwide, also co-directs the MDA neuromuscular disease clinic at that institution and is a longtime MDA research grantee.
Although MDA is not directly funding this SMA gene therapy trial, it has supported and continues to support the foundational research that makes this kind of trial possible.
For instance, MDA is currently supporting Christian Lorson at the University of Missouri to conduct gene therapy studies in animal models of SMA. In findings published online April 9, 2014, in Human Molecular Genetics, MDA grantee Lorson and colleagues showed that mice with an SMA-like disorder obtained maximal benefit from transfer of the SMN gene before symptoms began but that significant benefit could still be achieved after the onset of symptoms.
About the phase 1 SMA gene therapy trial
Prospective participants for the SMA gene therapy trial must:
Prospective participants must not:
(This is not a complete list of study criteria.)
Contact study coordinator Sohyun McElroy at Nationwide Children's in Columbus at (614) 355-2606 or Sohyun.McElroy@nationwidechildrens.org. The only trial site is Nationwide Children's Hospital in Columbus, Ohio.
For more information
See Gene Transfer Clinical Trial for Spinal Muscular Atrophy Type 1; or enter NCT02122952 in the search box at ClinicalTrials.gov.