First Human SMA Gene Transfer Therapy Trial Opens

A phase 1 gene transfer trial in nine babies with type 1 spinal muscular atrophy has opened at Nationwide Children's Hospital in Columbus, Ohio

Article Highlights:
  • The safety and efficacy of a one-time intravenous injection of SMN genes will be tested in nine SMA-affected infants who are less than 9 months old.
  • MDA has funded and continues to fund foundational research in SMA gene therapy.
  • The trial will take place under the direction of neurologist Jerry Mendell, a longtime MDA research grantee and co-director of the MDA clinic at Nationwide Children's Hospital.
by Margaret Wahl on May 6, 2014 - 9:33am

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:

  • have type 1 SMA;
  • have a mutation in both copies of the SMN1 gene;
  • have two copies of the SMN2 gene (no more and no fewer);
  • have experienced symptom onset by 6 months of age; and
  • have low muscle tone by clinical evaluation.

Prospective participants must not:

  • have an active viral infection;
  • have any illness besides SMA that may pose additional risks related to trial participation;
  • be using invasive (tracheostomy-delivered) ventilator support;
  • be taking certain medications, such as those that suppress the immune system;
  • show an immune response to the AAV9 virus used to deliver the SMN genes; or
  • be unwilling to use an alternative method to oral feeding if swallowing impairment is noted.

(This is not a complete list of study criteria.)

To participate

Contact study coordinator Sohyun McElroy at Nationwide Children's in Columbus at (614) 355-2606 or 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

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