Effects of Vitamin B3 in Patients With Ataxia Telangiectasia

What Was Tested

The trial (phase 2) is built around NAD+.

This clinical trial investigates the effects of nicotinamide riboside (vitamin B3) on the disease course of patients with ataxia telangiectasia.

Main study parameters/endpoints: Ataxia, dysarthria, quality of life, laboratory parameters.

It had 1 arm (groups): Intervention group (experimental).

Treatment with vitamin B3.

The registry classes the interventions as dietary supplement.

More on the Plan

Rationale: Ataxia Telangiectasia (A-T) is an autosomal recessively inherited neurodegenerative disorder, with a high cancer risk, that also affects the immune and respiratory system.

A-T is caused by mutations in the ATM gene.

The ATM protein plays a pivotal role in more than 100 different biochemical processes, among which cellular energy metabolism, cell signaling, and DNA repair.

NAD+ is available in food, but can also be synthesized in the body from its precursors nicotinamide, nicotinic acid, and nicotinamide riboside (NR), as a group called "vitamin B3".

Who Took Part

24 actual participants took part.

It was open to people of any sex aged from 2 years with no upper age limit.

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

Examples of who could join: A-T patients who visit their outpatient clinic. Genetically confirmed diagnosis of A-T by the identification of pathogenic mutations of the ATM gene. Age ≥ 2 years or older and bodyweight ≥ 12 Kg.

The full record lists 4 inclusion and 5 exclusion criteria; among the exclusions: elevated serum transaminases (\> 2 times upper limit of normal); participation in another interventional study at start of the study or during the study; breast feeding.

How the Study Was Run

It was run as a single-group and open-label study.

Everyone knew when NAD+ was being given (open label), which is simpler to run but leaves more room for expectations to affect what is reported.

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

It started in 2019-03-18 with completion listed for 2019-12-01.

It ran at 1 site in Netherlands.

Its stated primary purpose is treatment.

What Was Measured

Primary outcome: Ataxia, SARA (Scale of the assesment and rating of ataxia) (time frame: change from baseline -1 month - 4 months - 6 months). Ataxia, ICARS (International Cooperative Ataxia Rating Scale) (time frame: change from baseline -1 month - 4 months - 6 months). Ataxia, 9-hole pegboard test (time frame: change from baseline -1 month - 4 months - 6 months).

It also tracked 4 secondary outcomes, for example Quality of life questionnaire EuroQoL 5 Dimensions 5 Levels (EQ-5D-5L), Laboratory measurements, Intelligibility, Intelligibility in Context Scale (ICS) and Fatigue, Visual Analogous Scale (VAS).

What This Means in Plain Language

Put simply, this is a phase 2 trial of NAD+ in 24 people.

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

The trial is marked completed; no results are posted to the registry yet, so nothing here describes outcomes.

More context: the NAD+ compound page, all human trials.