301OTC02
Research type
Research Study
Full title
A Long-Term Follow-up Study to Evaluate the Safety and Efficacy of Adeno-Associated Virus (AAV) Serotype 8 (AAV8)-Mediated Gene Transfer of Human Ornithine Transcarbamylase (OTC) in Adults with Late-Onset OTC Deficiency
IRAS ID
245830
Contact name
Tarekegn Hiwot
Contact email
Sponsor organisation
Ultragenyx Pharmaceutical Inc
Eudract number
2018-000156-18
Clinicaltrials.gov Identifier
17190, IND Number
Duration of Study in the UK
5 years, 3 months, days
Research summary
Ornithine transcarbamylase (OTC) deficiency is a rare genetic metabolic disorder associated with the liver. OTC is a liver enzyme which helps rid the body of ammonia, a toxic breakdown product of dietary protein. These patients have a defective OTC gene. This results in ammonia accumulation in the blood which can lead to difficulty concentrating, seizures and coma.
Study 301OTC02 is sponsored by Ultragenyx Pharmaceutical, Inc. The primary reason of this study is to determine the long-term safety and efficacy of a single intravenous dose of DTX301 in adults with late-onset OTC deficiency during study 301OTC01. Up to 12 participants will take part from research sites worldwide.
Study 301OTC01 was the first time DTX301 was given to humans. DTX301 is experimental and has not yet been shown to be safe or effective. Part of DTX301 contains a non-disease causing virus, which has been modified in a laboratory and paired with working copies of the human OTC gene to liver cells.
Unlike current medical treatment options (dietary restriction and ammonia scavengers), DTX301 may offer the potential to correct the underlying deficiency for a prolonged period of time.
All participants who received a dose of DTX301 and completed Study 301OTC01 will be asked to participate in Study 301OTC02. No study drug will be administered during Study 301OTC02. During the study, patients are scheduled for approximately 10 hospital visits, of which 4 will involve overnight stays. Visits will be approximately every 13 weeks for the first year and then every 26 weeks thereafter.
Study procedures include: medical history, vital signs, physical examinations, blood and urine tests, quality of life questionnaires and tests of memory and concentration.
REC name
London - West London & GTAC Research Ethics Committee
REC reference
18/LO/0891
Date of REC Opinion
8 Aug 2018
REC opinion
Further Information Favourable Opinion