A Phase 3 Gene Replacement Therapy for Spinal Muscular Atrophy Type 1
Research type
Research Study
Full title
Phase 3, Open Label, Single Arm, Single Dose Gene Replacement Therapy Clinical Trial for Patients with Spinal Muscular Atrophy Type 1 with One or Two SMN2 Copies Delivering AVXS 101 by Intravenous Infusion
IRAS ID
228397
Contact name
Francesco Muntoni
Contact email
Sponsor organisation
AveXis, Inc.
Eudract number
2017-000266-29
Duration of Study in the UK
2 years, 6 months, 0 days
Research summary
Spinal muscular atrophy is a neurogenetic disorder cause by a loss or mutation in the survival motor neuron 1 gene (SMN1) on chromosome 5q13, which leads to reduced SMN protein levels and a selective dysfunction of motor neurons.
This study will try to find out if it is safe to deliver the SMN gene into the blood stream via intravenous (IV) infusion by a method called “gene transfer.” Doctors will transport this gene into a child’s motor neurons using a vehicle, which is a modified virus called adeno-associated virus (AAV). AAV does not cause any disease in humans. In this study, we will use AAV type 9 (AAV9) virus. AAV9 is being used because it can cross the “blood-brain barrier.” a tight barrier separating blood vessels from the spinal cord and brain. Doctors call the gene and the vehicle together a “vector.” We do not know if this vector will improve the child’s SMA or what all the risks might be related to the vector.
The vector, AVXS-101, has not been approved by the EMA (European Medicines Agency) and is considered experimental.
REC name
London - West London & GTAC Research Ethics Committee
REC reference
17/LO/1649
Date of REC Opinion
5 Feb 2018
REC opinion
Further Information Favourable Opinion