Mucopolysaccharidose - neurodegenerative disease Nutritional, Metabolic, Endocrine Mucopolysaccharidosis
Conditions
Interventions
Patients will receive gene therapy combined with immunosuppressant regimen. The vector is a serotype 2 AAV genome encoding the human a-N-acetylglucosaminidase cDNA packaged in a serotype 5 capsid call
Sponsors
Institut Pasteur (France)
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: 1. Age: 18 months to the end of the 5th year 2. Onset of clinical manifestations related to MPSIIIB during the first 5 years of life 3. NaGlu activity in peripheral blood cell and/or cultured fibroblast extracts of less than 10% of controls 4. Patient affiliated to a social security regimen 5. Family understanding the procedure and the informed consent 6. Vital laboratory parameters within normal range Sanfilippo disease is a rare disease and so the countries of recruitment will depend on the availabilities of the patient at the time of recruitment. There will be one study centre in France.
Exclusion criteria
Exclusion criteria: 1. Presence of brain atrophy on pre-inclusion MRI judged on a cortico-dural distance of more than 1 cm 2. Any condition that would contraindicate permanently anaesthesia 3. Any other permanent medical condition not related to MPSIIIB 4. No independent walking (Ability to walk without help) 5. Any vaccination 1 month before vector injection 6. Receipt of aspirin within one month 7. Any medication aiming at modifying the natural course of MPSIIIB given during the 6 months before vector injection
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Clinical, radiological, biological tolerance associated to the proposed treatment | — |
Secondary
| Measure | Time frame |
|---|---|
| Collection of data to define exploratory tests that will become evaluation criteria for further clinical phase III efficacy studies (brain MRI; neurological and biological markers) | — |
Countries
France
Outcome results
None listed