Ataxia-telangiectasia: Treating Mitochondrial Dysfunction With a Novel Form of Anaplerosis (A-TC7)
Ataxia Telangiectasia
About this trial
This is an interventional health services research trial for Ataxia Telangiectasia focused on measuring Ataxia Telangiectasia, Anaplerosis
Eligibility Criteria
Inclusion Criteria:
- 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 Criteria:
- 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.
Sites / Locations
- Queensland Children's Hospital
Arms of the Study
Arm 1
Arm 2
Arm 3
Other
Other
Other
Group 1: Triheptanoin and no Placebo
Group 2: Placebo and Triheptanoin
Group 3: Placebo, Placebo and Triheptanoin
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 on a 1:1:1 ratio into one of three groups. Group 1: 10%, 20%, 35%, 35%, 35% (no placebo). Group 2: placebo, 10%, 20%, 35%, 35% Group 3: placebo, placebo, 10%, 20%, 35%
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 on a 1:1:1 ratio into one of three groups. Group 1: 10%, 20%, 35%, 35%, 35% (no placebo). Group 2: placebo, 10%, 20%, 35%, 35% Group 3: placebo, placebo, 10%, 20%, 35%
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 on a 1:1:1 ratio into one of three groups. Group 1: 10%, 20%, 35%, 35%, 35% (no placebo). Group 2: placebo, 10%, 20%, 35%, 35% Group 3: placebo, placebo, 10%, 20%, 35%