Intracerebral Administration of AAV (SGSH) for MPS IIIA
Research type
Research Study
Full title
An Open-Label, Single-Arm, Multicenter Study of Intracerebral Administration of Adeno-Associated Viral Vectors Serotype rh10 Carrying the Human N-sulfoglucosamine sulfohydrolase (SGSH) cDNA for the Treatment of Mucopolysaccharidosis Type IIIA
IRAS ID
241791
Contact name
Anupam Chakrapani
Contact email
Sponsor organisation
Lysogene SA
Eudract number
2018-000195-15
Duration of Study in the UK
6 years, 3 months, 13 days
Research summary
The main study will enroll patients aged >30 months with a 2-year follow up. An extension phase will continue for a further 3-year period for patients for long-term efficacy analysis, safety assessment up to 5 years.
This single arm interventional trial is part of a program to develop a gene therapy for the treatment of MPS IIIA based on the direct injection of a serotype rh.10 capsid via the Adeno-associated viral vector (AV) (a virus used to transfer genes).
The capsid contains human SGSH cDNA (a gene that encodes the enzyme sulfamidase). Treatment will involve direct injections of the investigational product to both sides of the brain through image-guided tracks, in a single neurosurgical session, which will target the source of the disease the neurones.Mucopolysaccharidosis type IIIA (MPS IIIA) is also known as Sanfilippo syndrome type A is a rare single gene disorder pediatric disease that is uniformly fatal and is caused by a missing or dysfunctional catabolic protein.
The disease is neurodegenerative, with particularly cognitive impairments, and is fatal with young patients before twenty.
One UK Site will be available for surgery for potential patients.
After surgery, safety toxicity will be evaluated by contact between Doctors and families, during in-person visits. At each visit, clinical, cognitive progression will be assessed plus blood, urine analyses.
Brain imaging (MRI/MRS) will be performed at inclusion (baseline) under general anesthesia or sedation for those patients before/after surgery, at 6 months intervals up to 2 years, annually up to 5 years post treatment.
Cerebrospinal fluid (CSF) tap will be collected at the opportunity of each MRI and analysed for disease biomarkers.
Neuropsychological, behavioral tests will be completed at baseline, and 6 months for 24 months, and yearly up to 5 years after treatment.
Safety will be monitored through the entire study period.
REC name
South Central - Oxford A Research Ethics Committee
REC reference
18/SC/0426
Date of REC Opinion
11 Oct 2018
REC opinion
Further Information Favourable Opinion