Ataxia-telangiectasia: Treating Mitochondrial Dysfunction With Nicotinamide Riboside

Launched by THE UNIVERSITY OF QUEENSLAND · Mar 15, 2024

Keywords

ClinConnect Summary

This clinical trial is exploring the effects of a supplement called nicotinamide riboside on patients with Ataxia-Telangiectasia (A-T), a rare genetic condition that affects movement and the immune system. The trial will involve 6 to 10 participants who will take nicotinamide riboside at a dose of 25 mg per kilogram of body weight each day, divided into three smaller doses. Researchers will look for improvements in balance, walking, speaking, and fine motor skills, using specific assessment scales to measure any changes.

To be eligible for this study, participants must have a confirmed diagnosis of A-T and be able to participate in the trial procedures. Families must be willing to follow the study's guidelines and provide consent. However, individuals who have recently participated in another clinical trial, have certain health conditions, or are pregnant or breastfeeding cannot join. The trial is not yet recruiting participants, but it aims to gather important information about how this supplement might help those living with A-T.

Gender

ALL

Eligibility criteria

• Inclusion Criteria:
• Participants who meet all of the following criteria are eligible for enrolment:
• • 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:
• Participants who meet any of these criteria are not eligible for enrolment:
• • 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
• • 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.