Status:
COMPLETED
Ataxia-telangiectasia: Treating Mitochondrial Dysfunction With a Novel Form of Anaplerosis
Lead Sponsor:
The University of Queensland
Collaborating Sponsors:
National Health and Medical Research Council, Australia
Conditions:
Ataxia Telangiectasia
Eligibility:
All Genders
Phase:
PHASE2
Brief Summary
Study design: Parallel group, placebo-controlled, dose-escalation each 2 months for 12 months. Dose based on percent (%) of calculated caloric intake. Thirty participants will be randomised in blocks ...
Detailed Description
Ataxia Telangiectasia (A-T) is a rare, genetic, progressive, life-limiting, neuro-degenerative condition affecting a variety of body systems resulting in ataxia, immune deficiency, respiratory complic...
Eligibility Criteria
Inclusion
- Patients of either sex, of any age, with a confirmed diagnosis of A-T,
- Patients who are able to undertake the study procedures,
- Families who are able to comply with the protocol for its duration and who provide informed patient assent and consent signed and dated by parent/legal guardian or adult participant according to local regulations.
Exclusion
- Patients whose parents/legal guardians are not able to provide consent
- Patients who have been in another randomised clinical intervention trial where the use of investigational medicinal product within 3 months or 5 half-lives, whichever is longer, before study enrolment
- Taking off label mediations or nutritional supplements that the PI consider would impact participant's safe participation.
- Patients who are pregnant and/or lactating, planning a pregnancy during the study. Contraception must be used for sexually active male and female participants
- Intestinal Malabsorption secondary to Pancreatic Insufficiency
- Liver enzymes (alanine aminotransferase \[ALT\]/aspartate aminotransferase \[AST\]) or total bilirubin \> 2 x the upper limit of normal at the time of screening.
- Renal insufficiency as defined by estimated glomerular filtration rate (eGFR) \< 30 mL/min/1.73m2 at the screening visit.
- Any comorbid medical condition that in the assessment of the PI that would impact participant's safe participation (e.g. active cancer requiring treatment)
- Evidence of dysphagia that places subject at risk of aspiration if orally fed.
Key Trial Info
Start Date :
March 15 2022
Trial Type :
INTERVENTIONAL
Allocation :
ACTUAL
End Date :
July 10 2023
Estimated Enrollment :
30 Patients enrolled
Trial Details
Trial ID
NCT04513002
Start Date
March 15 2022
End Date
July 10 2023
Last Update
July 20 2023
Active Locations (1)
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1
Queensland Children's Hospital
Brisbane, Queensland, Australia, 4001