Long-term follow-up study of patients with SMA receiving AVXS-101

• Research type

  Research Study

• Full title

  A Long-term Follow-up Study of Patients in the Clinical Trials for Spinal Muscular Atrophy Receiving AVXS-101

• IRAS ID

  271232

• Contact name

  Francesco Muntoni

• Contact email

  f.muntoni@ucl.ac.uk

• Sponsor organisation

  AveXis, Inc

• Eudract number

  2019-002611-26

• Clinicaltrials.gov Identifier

  15699, IND number

• Duration of Study in the UK

  14 years, 3 months, 10 days

• Research summary

  Spinal muscular atrophy (SMA) is a rare genetic disorder. Symptoms of SMA occur when the Survival Motor Neuron
  (SMN) protein (a molecule in the body that helps to build, maintain and replace tissues in your body) is missing in the
  spinal cord and motor nerves. Without SMN, the nerve control will worsen and cause muscle weakness as well as
  swallowing/breathing problems and other complications. Approximately 1 in 10,000 babies are affected, and SMA has
  limited treatment options. Disease severity correlates with SMN levels, emphasising the potential benefit for SMN
  gene replacement therapy. AVXS-101 is delivered into the body using a modified virus called adeno-associated virus (AAV) as it can cross the “blood-brain barrier” (a tight barrier separating blood vessels from the spinal cord and brain), allowing delivery to the place where neurons are affected the most by the faulty SMN1 gene. Participants immune system may attack AAV which means this virus cannot be used in future gene therapy. The long-term effects of gene replacement therapy are not known.

  This is a long term follow up study for the continuous monitoring of safety and clinical benefit of patients already treated with AVXS-101 in Phase I to III clinical studies for Spinal Muscular Atrophy. This study will monitor participants for up to 15 years (inclusive of follow up period from initial study) from the date AVXS-101 was administered. Participants will be required to visit the study site twice a year for the first two years; once a year from year 3 to 5 and then will be contacted via phone annually for the remainder of the study. There will no treatment administered as part of this study, only follow up. Participants will receive various assessments throughout the study, including but not limited to physical examinations, blood tests, echocardiograms and pulmonary assessments.
  

• REC name

  South Central - Oxford A Research Ethics Committee

• REC reference

  20/SC/0027

• Date of REC Opinion

  30 Mar 2020

• REC opinion

  Further Information Favourable Opinion