Study to test the safety and the initial efficacy of an investigational medicinal product, abbreviated as AAV9-hSGSH, in children with Sanfilippo A Syndrom.

Phase 1

Conditions: Mucopolysaccharidosis type IIIA (Sanfilippo A syndrome)
Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]

Registration Number: CTIS2024-515835-31-00

Lead Sponsor: Esteve Pharmaceuticals S.A.

Brief Summary: Not available

Detailed Description: Not available

Recruitment & Eligibility

Status: ot Recruiting

Sex: All

Target Recruitment: 9

Inclusion Criteria

Male and female children aged 2 years or older., Family understanding the procedure and the informed consent., Signed informed consent., Patients with confirmed MPSIIIA (by genotype), with underlying missense mutation at least in one of the alleles for the disease and documented deficiency in sulfamidase enzyme activity in leukocytes of less than or equal to 10%., Onset of clinical manifestations related to MPSIIIA during the first 6 years of life., Patients with an adaptive behaviour score between 40 and 90 as evaluated by Vineland Adaptive Behaviour Scale (Vineland-III)., Patients not dependent on a wheelchair., Patients without severe sensory deficit (blindness, deafness that requires headset)., Patients with stable symptomatic treatment (depending on weight) within the last 3 months, with no anticipated changes in medication regimen., Patients with no contraindication for surgical procedure and/or anaesthesia. Patients taking non-steroidal anti-inflammatory drugs (NSAIDs) should discontinue their use., Patients medically stable to accommodate the protocol requirements, including travelling and assessments.

Exclusion Criteria

Patient deterioration that may compromise the interpretation of the study results., Patients with neutralising antibodies (NAb) against AAV9 in cerebrospinal fluid., Epilepsy resistant to treatment., Patients with significant co-morbid conditions., Any other medical and/or complementary evaluations condition not related to MPSIIIA that could contraindicate the study participation., Any contraindication for anaesthesia and product administration procedure, including major risk factors for haemorrhage., Any condition that would contraindicate treatment with immunosuppressants., Any vaccination 30 days before investigational product administration., Patients who have received any medication with the objective of modifying the natural course of the disease, i.e. gene transfer agents or enzyme replacement therapy.