232SM201 - Spinal Muscular Atrophy Study
Research type
Research Study
Full title
An Open-Label Study to Assess the Efficacy, Safety, Tolerability, and Pharmacokinetics of Multiple Doses of ISIS 396443 Delivered Intrathecally to Subjects With Genetically Diagnosed and Presymptomatic Spinal Muscular Atrophy
IRAS ID
173651
Contact name
Francesco Muntoni
Contact email
Sponsor organisation
Biogen Idec Research Ltd
Eudract number
2014-002098-12
Duration of Study in the UK
4 years, 10 months, 1 days
Research summary
ISIS 396443 is an investigational product that is being developed by Biogen Idec as a potential treatment for Spinal Muscular Atrophy (SMA). A genetic diagnosis of SMA occurs when there is a genetic defect in the survival motor neuron 1 (SMN1) gene and this gene cannot make survival motor neuron (SMN) protein. In patients with a genetic defect in the SMN1 gene, the SMN protein comes from a second gene, called survival motor neuron 2 (SMN2). In SMA patients, the number of SMN2 gene copies and the resulting amount of SMN protein is related to the onset, symptoms and severity of SMA. The drug ISIS 396443 is designed to increase the amount of SMN protein coming from the SMN2 gene.
This research study is for participants who have been genetically diagnosed with SMA and are not yet showing signs or symptoms of this disease. The participant will also be 6 weeks old or less, and have 2 or 3 copies of the SMN2 gene.
The main purpose of this study is to find out if ISIS 396443 has any effects (good or bad) on infants with SMA and to see if ISIS 396443 can prevent or delay the onset of symptoms of SMA.
This is an open-label study, which means that all of the study participants will receive the study drug.
Participants will be in the study for about 2 and 1/2 years if they qualify for the study. The study consists of a screening period, which can take up to 21 days, a 778-day treatment period, and a follow-up evaluation approximately 3 months after the last dose of study drug.
Around 25 subjects from about 25 study centres in 10 countries will take part in this study.
REC name
London - Riverside Research Ethics Committee
REC reference
15/LO/0886
Date of REC Opinion
10 Jun 2015
REC opinion
Favourable Opinion