AveXis SMA Gene Therapy Trial Continues Recruiting

The first three infants in a gene therapy trial for spinal muscular atrophy have been treated; the trial continues, and additional trials are planned

Article Highlights:
  • Biopharmaceutical company AveXis is developing chariSMA, a gene therapy compound consisting of an SMN gene inside an AAV9 viral shell, to treat spinal muscular atrophy (SMA).
  • Three infants with type 1 SMA have received the compound by intravenous infusion.
  • The trial remains open to infants less than 9 months old who meet study criteria, and two additional trials are being planned.
by Margaret Wahl on November 18, 2014 - 9:24am

Dallas-based biotechnology company AveXis, which is developing gene therapy for spinal muscular atrophy (SMA), announced in October that administration of its experimental gene transfer compound to the first three patients in a phase 1 trial in infants with type 1 SMA is now complete. (The first infant received the experimental compound on May 13.)

The nine-infant trial is ongoing and continues to recruit participants, who will receive a higher dosage level of the drug than the first group.

AveXis' SMA drug, known as chariSMA, contains the gene for the full-length SMN protein, in which SMA-affected cells are deficient, encased in the shell of a type 9 adeno-associated virus (AAV9 "vector") as a delivery vehicle.

The AAV9 virus may be uniquely well suited to treating SMA, AveXis says, because it does not cause disease in humans, and it can cross biological barriers to reach SMA-affected cells in the central nervous system.

About the phase 1 intravenous trial of SMA gene therapy

The phase 1 trial of intravenous SMA gene therapy is being conducted at Nationwide Children's Hospital in Columbus, Ohio, under the direction of neurologist Jerry Mendell, a longtime MDA research grantee and co-director of the MDA clinic at his institution. (MDA is not, however, funding this trial.)

Prospective participants must

  • have type 1 SMA;
  • be 9 months old or younger;
  • 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; andv
  • 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;
  • have pre-existing antibodies (immune system proteins) 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 Sohyun.McElroy@nationwidechildrens.org.

For additional details, see Gene Transfer Clinical Trial for Spinal Muscular Atrophy Type 1, or enter NCT02122952 in the search box at ClinicalTrials.gov.

More SMA gene therapy trials planned

A second trial for type 1 SMA-affected babies, in which the drug will be infused into the spinal fluid (called "intrathecal" delivery), is being planned for the first half of 2015; and a trial of the compound for type 2 SMA patients is being considered for 2015.

For more information

To learn more about chariSMA, see Our Research on the AveXis site.

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