At a glance
- What the study gets you
- Access to the study treatment being tested
- Type of study
- Interventional (receives a drug or procedure)
- Time in hospital
- In-person visits at study sites — visit count not specified by the sponsor
- Drug or intervention
- AAVLK03hOTC (genetic)
- How long the study runs
- Study runs about 43 months (dates as stated)
- About the drug or intervention
- AAVLK03hOTC — genetic: Peripheral intravenous infusion of AAVLK03hOTC.
- Patient visit burden
- Not specified by the sponsor
- Type of study
- Testing a treatment
- Ages
- 0 Days to 16 Years
- Who
- All
- Number of participants
- 12
- Started
- 2023-11-01
- Last checked
- 2023-10
Plain English Summary
What is this study?
- • Testing a new treatment for ornithine transcarbamylase deficiency
- • Phase1/Phase2 - 12 participants
- • Ornithine transcarbamylase deficiency (OTCD) is an inherited metabolic liver disease which means that the body cannot maintain normal levels of ammonia
Who can take part?
- • Ages 0 Days to 16 Years
- • Diagnosed with ornithine transcarbamylase deficiency
Where?
- • London - Great Ormond Street Hospital
This is a simplified summary. Always discuss with your doctor before making any decisions.
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).
More detail
OTC is a key element of the urea cycle, which is how the liver breaks down and removes extra nitrogen from the body. For people with OTCD the extra nitrogen builds up in the form of excess ammonia (hyperammonemia) in the blood. Ammonia is toxic and people with OTCD suffer 'hyperammonaemic decompensations' when ammonia levels in the blood rise too high. The symptoms of these hyperammonaemic decompensations include vomiting, impaired movement, and progressive lethargy. If left untreated these hyperammonaemic decompensations may result in life-threatening complications or coma. OTCD is managed with drugs that reduce the amount of ammonia in the blood (ammonia-scavenging drugs) and a low protein diet. However, sometimes hyperammonaemic decompensations still occur. Liver transplants for people with OTCD can be life-saving but there may be a long wait for a suitable liver and neurological damage may occur before a liver transplant is possible. The HORACE study is testing a new gene therapy (AAVLK03hOTC) which specifically targets the liver so that it can start making OTC. The investigators hope that a single injection of gene therapy for children with OTCD could help the liver work normally and reduce hyperammonaemic decompensations and their associated risks. This gene-therapy treatment could serve as a 'bridge-to-transplant' where children could grow up in a metabolically stable condition until a liver transplant is possible. This could minimise longer-term neurological damage caused by hyperammonaemic decompensations.
How this trial compares with your answers
Answer 2 more questions to improve match
What we know so far
Still need:
- • Tell us your age for better matching
- • Tell us your sex for better matching
Preliminary match based on your answers. Full eligibility requires on-site assessment including medical history, physical exam, and lab tests. This does not guarantee enrolment.
Eligibility at a Glance
Key info
- Age: 0 Days - 16 Years
- Who can join: All genders
Biomarkers mentioned
What the study is looking for
- ✓OTC deficiency confirmed via enzymatic or molecular analysis. This may include identification of pathogenic...
- ✓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 agreement to take part form.
- ✓Patient's ammonia level at baseline visit (pre-gene therapy infusion) is \<100µmol/L and is within the range of...
- ✓Patient has been on a stable dose of ammonia scavenger and stable protein allowance for the last 4 weeks at the...
Who cannot take part
- ✗Titres of the neutralising antibodies against AAV-LK03 \>1:5 serum dilution.
- ✗Evidence of severe unexplained liver disease including but not limited to liver cancer, liver cirrhosis, or...
- ✗Evidence of active hepatitis B or C virus (HBV and HCV respectively) documented by hepatitis B surface antigen...
- ✗Positive PCR for human immunodeficiency virus (HIV).
- ✗Liver transplant including hepatocytes/cells infusion.
See the full criteria
Where Is This Study? (1 UK site)
Great Ormond Street Hospital
London WC1N 3JH, United Kingdom
How to Get in Touch
Trial Manager
Sponsor contactCONTACT
