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Study to test the safety and the initial efficacy of an investigational medicinal product, abbreviated as AAV9-hSGSH, in children with Sanfilippo A Syndrom.
EU CTIS ID: 2024-515835-31-00
What this study is testing
The main objective of this study is to determine the safety and tolerability, including the immune response, after intracerebroventricular (ICV) administration of a single dose of Adenoassociated viral vector serotype 9 containing human sulfamidase gene (AAV9-CAG-coh-SGSH) in three dosage cohorts of patients with Mucopolysaccharidosis type IIIA (MPSIIIA) or Sanfilippo A syndrome.
- Phase I and Phase II (Integrated)- First administration to humans
A plain-language read of the study's public EU CTIS listing. The study team confirms the details.
Who can take part
You may be able to join if
- 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).
You likely can't join if
- 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.
See the full eligibility 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.
- 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.
The study team makes the final eligibility decision.
Questions & answers
Do participants get paid in this trial?
This listing doesn't specify compensation. Many trials still reimburse travel or offer a stipend, so it's worth asking the study team when you connect.
Is it free to join, and do I need insurance?
Searching and applying through BridgeMD is free. In clinical trials the study-related treatment and visits are generally provided at no cost to you. You usually don't need insurance to take part - confirm specifics with the study team.
How long does this study last?
The listing doesn't state an exact length. The study team walks you through the schedule and number of visits before you decide to enroll.
Who can join this trial?
This study is enrolling all sexes, 0-17 years. The study team makes the final eligibility decision.
Explore other conditions
BridgeMD is an information and trial-matching tool - not medical advice, and not the study sponsor. Details come from EU CTIS; the study team decides eligibility.