This study examines a gene therapy called rAAV2/5-hNAGLU, delivered into the brain, in children with Sanfilippo Type B syndrome (mucopolysaccharidosis type IIIB, MPS IIIB). It was designed for children aged 18-60 months who had begun showing clinical signs of the disease and had low NAGLU enzyme activity. The study was conducted in Phase 1/Phase 2 and has been completed.
The summary above is a plain-language rendering of the official record. The original English title is shown for reference.
Criteria are reproduced from the ClinicalTrials.gov record in the original English. Only the trial team can determine eligibility.
Inclusion criteria: * Age: 18 months up to 60 months (5th birthday); * Onset of clinical manifestations related to mucopolysaccharidosis type IIIB (MPSIIIB); * NAGLU activity in peripheral blood cell and/or cultured fibroblast extracts of less than 10% of controls; * Patient affiliated to, or covered by a French social security regimen, or European patients with European Health Insurance Card; * Family understanding the procedure and the informed consent; * Signed informed consent by both parents or legal representative; * Vital laboratory parameters within normal range. Exclusion Criteria: * Presence of brain atrophy on baseline MRI judged on a cortico-dural distance of more than 0.6 cm; * Any condition that would contraindicate general anesthesia; * Any other permanent medical condition not related to MPSIIIB that could contraindicate the study participation; * No independent walking (ability to walk without help); * Any medication aiming at modifying the natural course of MPSIIIB given during the 6 months before vector injection (sleep and mood regulators are accepted); * Any condition that would contraindicate treatment with Modigraf®, Cellcept® and prednisolone (Solupred® and Solumedrol®).