Ataxia-telangiectasia: Treating Mitochondrial Dysfunction With Nicotinamide Riboside

What Was Tested

In this not phased trial, researchers set out to test NAD+ for mitochondrial dysfunction.

Study design: Single arm open-label clinical trial in ataxia-telangiectasia to test the effects of nicotinamide riboside on ataxia scales, immune function, and neurofilament light chain.

Study population: 6-10 patients with Ataxia-Telangiectasia.

It had 1 arm (groups): Single arm (full group) (other).

The registry classes the interventions as drug.

More on the Plan

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 complications and a predisposition to cancer.

Over the years, a number of small clinical trials using steroids, antioxidants and anti-inflammatory agents have had little success.

With palliative care being the only current option for families, a treatment trial for A-T meets an unmet need.

C7 corrects a defect in endoplasmic reticulum (ER)-mitochondrial signalling in A-T cells and has great potential for application in treating patients.

Who Took Part

10 planned participants were the target.

It was open to people of any sex.

Healthy volunteers were not accepted; participants needed the condition being studied.

Examples of who could join: Patients of either sex, of any age, with a confirmed diagnosis of A-T,. Patients who are able to undertake the study procedures,.

The full record lists 3 inclusion and 8 exclusion criteria; among the exclusions: patients whose parents/legal guardians are not able to provide consent; 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.

How the Study Was Run

Design: single-group and open-label.

Being open-label, the NAD+ study did not mask who received what.

Everyone received the same intervention, so there was no separate comparison group inside the trial.

It started in 2024-05-01 with completion listed for 2025-10-30.

It ran at 1 site in Australia.

Its stated primary purpose is health services research.

What Was Measured

Primary outcome: Scales for assessment and rating of ataxia (time frame: 4 monthly assessment over 12 months). International Cooperative Ataxia Rating Scale (time frame: 4 monthly assessment over 12 months).

It also tracked 2 secondary outcomes, for example Serum analysis of neurofilament light chain and Type 1 Interferon epigenetic signature.

What This Means in Plain Language

Put simply, this is a not phased trial of NAD+ in 10 people with mitochondrial dysfunction.

Its size is small, so on its own it can only give an early look.

Its status is unknown; no results are posted to the registry yet, so nothing here describes outcomes.

More context: the NAD+ compound page, Mitochondrial dysfunction research.