Halting Ornithine Transcarbamylase Deficiency With Recombinant AAV in ChildrEn
Trial Parameters
Brief Summary
Ornithine transcarbamylase deficiency (OTCD) is an inherited metabolic liver disease which means that the body cannot maintain normal levels of ammonia. Ammonia levels can rise (called hyperammonaemic decompensations) which can be life-threatening and may result in impaired neurological development in children. OTCD is a rare genetic disorder characterised by complete or partial lack of the enzyme ornithine transcarbamylase (OTC).
Eligibility Criteria
Inclusion Criteria: 1. Patient (male or female) aged ≤16 years at time of written informed consent. For the dose escalation phase patients must be aged 6-16, for the dose expansion phase patients must be aged 0-16 (at the time of written informed consent). 2. OTC deficiency confirmed via enzymatic or molecular analysis. This may include identification of pathogenic mutations or liver OTC activity that is \<20% of normal activity. 3. Patient has severe disease defined by reduced protein allowance and prescribed at least one ammonia scavenger drug. 4. Patient (if capable of signing) and parents or legal representative have signed a written informed consent form. 5. Females of childbearing potential must have a negative pregnancy test in serum or urine at the screening and Day 0 infusion visits, and use an adequate contraception method from the screening visit until 4 weeks after the first negative plasma sample monitoring vector genomes copies or the week 52 visit, whatever comes first.