Halting Ornithine Transcarbamylase Deficiency With Recombinant AAV in ChildrEn
Trial statusRecruiting
Trial phasePhase 1, Phase 2
Trial typeInterventional
Biological sexAll
Age0-16
SponsorUniversity College, London
About this trial
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
Qualifiers
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).
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.
Patient has severe disease defined by reduced protein allowance and prescribed at least one ammonia scavenger drug.
Patient (if capable of signing) and parents or legal representative have signed a written informed consent form.
Disqualifiers
Titres of the neutralising antibodies against AAV-LK03 >1:5 serum dilution.
Significant hepatic inflammation as evidenced by the following laboratory abnormalities: alanine aminotransferase or aspartate aminotransferase or bilirubin >2 x upper limit of normal (ULN), alkaline phosphatase >3 x ULN.
Evidence of severe unexplained liver disease including but not limited to liver malignancy, liver cirrhosis, or acute liver failure.
Evidence of active hepatitis B or C virus (HBV and HCV respectively) documented by hepatitis B surface antigen (HBsAg) or HCV RNA positivity.
Trial design
Treatments tested in this trial
- AAVLK03hOTC
Treatment groups
12 Participants
are divided into 1 treatment groupSponsors and collaborators
Source ClinicalTrials.gov