This study examines a gene therapy called AAVrh.10cuARSA delivered into the brain in children with early-onset metachromatic leukodystrophy (MLD). It enrolled children aged 6 months to 5 years diagnosed with MLD based on ARSA enzyme activity and the buildup of sulfatides in urine. The study was carried out 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: * Boys or girls with an early onset form of MLD. * Age between 6 months and 5 years, inclusive * Diagnostic of MLD based on the measurement of ARSA activity in leukocytes and the accumulation of sulfatides in urine, along with normal activity of at least one other sulfatase * Informed consent signed up and willingness for monitoring 2 years after treatment. * Normal values for standard laboratory tests Exclusion Criteria: * Absence of ARSA protein by immunocytochemistry and/or ELISA * Gestational age \<32 weeks of amenorrhoea and age \< 1 year * Brain atrophy with a subdural space \> 10 mm in the frontal region * Performance IQ\<50 at WPPSI-III or cognitive function \< 3rd percentile at the Bayley's test of infant development * If age \> 16 months at inclusion, inability to walk few steps alone OR inability to walk few steps with support on one side along with inability to stand up alone * Impossibility for anesthesia * Malignancy, cardiac malformation, liver dysfunction, or renal dysfunction * Neurological disorder, except benign, not related to MLD. * Any other clinically significant untreated co-morbid medical condition as determined by the clinical investigator, including cardiac, pulmonary or kidney disease. * MRI impossibility * Evoked potential impossibility * Participation to another therapeutic clinical trial for MLD. * Unaffiliated to any French or any other National Health Insurance.