Natural history in mucopolysaccharidosis type IIIA
Research type
Research Study
Full title
An observational, prospective, multi-centre, natural history study of patients with mucopolysaccharidosis type IIIA
IRAS ID
202807
Contact name
Alice Le Meur
Contact email
Sponsor organisation
Lysogene
Duration of Study in the UK
2 years, 7 months, 17 days
Research summary
Sanfilippo syndrome, or Mucopolysaccharidosis type III (MPS III), is a rare lysosomal disease. There are four biochemical subtypes of MPS III (A, B, C & D). MPS IIIA is caused by an autosomal recessive genetic defect of a lysosomal sulfamidase, N-sulfoglycosamine sulphohydrolase. This enzyme is ubiquitously expressed in tissues and is involved in the step-wise degradation of heparan sulphate. In its absence, partially degraded oligosaccharides accumulate at toxic levels. MPS IIIA is a rare disease with an estimated prevalence of approximately 1 per 100,000 live birth. Clinical manifestations are predominantly characterized by severe neurodegenerative features combined with relatively milder physical symptoms. It leads to an extremely deteriorated quality of life and is a particularly devastating disease both for those affected and their families. There is currently no disease altering treatment for MPS IIIA.
The primary goal of this proposed natural history study (NH) is to evaluate the clinical progression in patients with MPS IIIA who are untreated with any investigational product.
Data on the natural disease course of MPS IIIA in patients is essential to inform the efficacy measures that will be required to evaluate the MPS IIIA gene therapy trial in development at Lysogene. This NH study will be conducted before the start of the gene therapy trial(s) to function as a non-concurrent control using similar inclusion criteria and the same tools to be used in the gene therapy clinical trial(s), to measure the neurocognitive development, behavior, quality of life and sleep disturbance in subjects with MPS IIIA.
The proposed study will enroll up to 25 subjects, ages up to, and including 9 years of age with a diagnosis of MPS IIIA.
Subjects will have up to six onsite visits over a period of 2 years.
This study will provide benchmark data on the natural history of untreated patients. Aged matched groups can be compared; but also the NH will capture data on older patients enabling the longer term comparison of patients treated in the gene therapy trial.
REC name
London - Queen Square Research Ethics Committee
REC reference
16/LO/0458
Date of REC Opinion
6 May 2016
REC opinion
Further Information Favourable Opinion