A Phase 2 interventional study of Vitamin B3 in Ataxia Telangiectasia and ATM Gene Mutation, sponsored by Radboud University Medical Center. Completed at 1 site in Netherlands. Open to participants aged 2 Years and older. Per ClinicalTrials.gov, last updated 2022-07-25.
Sponsored by Radboud University Medical Center · Phase 2, Interventional, and Treatment
This clinical trial investigates the effects of nicotinamide riboside (vitamin B3) on the disease course of patients with ataxia telangiectasia.
Patients will be treated during four consecutive months with nicotinamide riboside (25mg/kg/day), followed by a washout period of two months.
Main study parameters/endpoints: Ataxia, dysarthria, quality of life, laboratory parameters.
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. Therapy for A-T is restricted to symptomatic treatment including rehabilitation care, combined with infection prevention and treatment, and screening for pulmonary dysfunction and malignancies. 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. Nicotinamide adenine dinucleotide (NAD+) is an essential molecule in many of these processes and studies have shown that NAD+ deficiency plays a role in disease mechanisms underlying DNA repair disorders such as A-T. 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". Treatment of experimental A-T animal models with NR showed beneficial effects. The aim of this study is to investigate whether treatment with NR during a period of six months may have positive effects on the disease course of patients with A-T.
Objective: To investigate the effects of NR on the disease course of patients with ataxia telangiectasia.
Study design: Single center, interventional, explorative, open-label proof of concept study.
Study population: Patients with A-T (age >2 years).
Intervention (if applicable): Patients will be treated with nicotinamide riboside (25mg/kg/day), during four consecutive months, followed by a washout period of two months.
Main study parameters/endpoints: Ataxia, dysarthria, quality of life, laboratory parameters.
295 studies on the registry are indexed under Ataxia; 51 are open to participants now.
This study's enrollment of 24 is close to the median of 26 across 216 interventional studies indexed under Ataxia.
Browse Ataxia studies →Radboud University Medical Center is the lead sponsor of 959 studies on the registry; 134 are open to participants now.
Of its 6 completed or terminated interventional studies of FDA-regulated products, 0 (0%) have results posted.
Counted across the registry records on this site, refreshed daily.
Exclusion Criteria:
treatment with vitamin B3
Dietary Supplement: Vitamin B3
capsules with niagen
Also known as: Nicotinamide riboside
Ataxia, SARA (Scale of the assesment and rating of ataxia)
Changes in the total score will be measured.
Time frame: change from baseline -1 month - 4 months - 6 months
Ataxia, ICARS (International Cooperative Ataxia Rating Scale)
Changes in the total score will be measured.
Time frame: change from baseline -1 month - 4 months - 6 months
Ataxia, 9-hole pegboard test.
Changes in fastes time of the 9-hole pegboard test will be measured.
Time frame: change from baseline -1 month - 4 months - 6 months
Dysarthria, Radboud dysarthria assesment (RDA)
Changes in maximum performance tasks and severity of dysarthria will be measured.
Time frame: change from baseline -1 month - 4 months - 6 months
Quality of life questionnaire EuroQoL 5 Dimensions 5 Levels (EQ-5D-5L)
Changes in the total quality of life score will be measured.
Time frame: change from baseline -1 month - 4 months - 6 months
Laboratory measurements
Results will be summarized descriptively, with abnormal and clinically notable values/findings being identified
Time frame: change from baseline -1 month - 4 months - 6 months
Intelligibility, Intelligibility in Context Scale (ICS)
Changes in the total score of the Intelligibility in Context Scale (ICS), will be measured.
Time frame: change from baseline -1 month - 4 months - 6 months
Fatigue, Visual Analogous Scale (VAS)
Changes in the total VAS score will be measured.
Time frame: change from baseline -1 month - 4 months - 6 months
Plan to share: No
No publications or documents are linked to this record.
This study is completed, as verified in Mar 2019. You cannot join it, but the record below documents what was studied.
Get an email when the registry record changes — status, dates, results — or when someone posts here.
Sign in to followQuestions and observations about this study, from anyone following it. Not medical advice, and not a channel to the study team — their contact details are on the registry record.
Sign in to join the discussion. Reading takes no account; posting does. You choose a display name, and a pseudonym is the default.
Nothing here yet. If you are running this trial, taking part in it, or weighing whether to, this is the place to say so.
Radboud University Medical Center