Nicotinamide Riboside Supplementation Improves Ataxia Scores and Increases Antibody Levels in Ataxia Telangiectasia Patients

Why This Matters

Ataxia telangiectasia (AT) is a rare, inherited neurodegenerative disorder characterized by cerebellar degeneration, immunodeficiency, and cancer predisposition [1]. Previous preclinical research has shown that increasing NAD+ through nicotinamide riboside (NR), a vitamin B3 form, improved neurodegeneration and neuromuscular function in mouse models of AT [2, 3]. These results indicate that NAD+ boosting may be a potential therapeutic strategy for AT. Researchers of this study set out to investigate the effects of boosting NAD with NR in AT patients.

Results Demonstrated Nicotinamide Riboside (NR) Improved Ataxia Scores and Increased Antibodies

The study was an open-label, proof-of-concept study of 24 patients (15 men, 9 women) with AT. Of the 24 patients, 17 were children under the age of 18. The patients received 25mg/kg body weight of NR per day for four consecutive months, followed by two months without treatment [4].

During NR treatment, patients’ ataxia scores improved. However, this improvement disappeared after NR withdrawal, indicating a temporary, symptomatic effect of NR in AT [4].

NR treatment also markedly increased serum immunoglobulin G (IgG), or antibodies, in immunodeficient patients with classic AT during the total study period (six months). Patients with AT are known to be immunodeficient with decreased serum immunoglobulins concentrations [4].

The Significance of The Study

This study is not only the first to investigate the effects of NR in AT patients, but also the first to include children under the age of 18. The positive findings in this study warrant additional research on the use of NR in AT and may allow future clinical NR trials with children.

Footnote

The study used nicotinamide riboside (NR) from ChromaDex.

References

1. Rothblum-Oviatt, C., et al., Ataxia telangiectasia: a review. Orphanet journal of rare diseases, 2016. 11(1): p. 159-159. https://ojrd.biomedcentral.com/articles/10.1186/s13023-016-0543-7

2. Fang, E.F., et al., NAD(+) Replenishment Improves Lifespan and Healthspan in Ataxia Telangiectasia Models via Mitophagy and DNA Repair. Cell Metab, 2016. 24(4): p. 566-581. https://pubmed.ncbi.nlm.nih.gov/27732836/

3. Yang, B., et al., NAD(+) supplementation prevents STING-induced senescence in ataxia telangiectasia by improving mitophagy. Aging Cell, 2021: p. E13329. https://pubmed.ncbi.nlm.nih.gov/33734555/

4. Veenhuis, S.J.G., et al., Nicotinamide Riboside Improves Ataxia Scores and Immunoglobulin Levels in Ataxia Telangiectasia. Movement Disorders, 2021. https://doi.org/10.1002/mds.28788