Ataxia-telangiectasia (AT) is a neurodegenerative disease characterized by premature aging, cerebellar degeneration, immunodeficiency, and cancer predisposition.
AT is caused by mutations in the gene encoding the ATM protein. ATM proteins play a central role in important cellular processes such as DNA repair, oxidative stress response and energy metabolism.
Nicotinamide adenine dinucleotide (NAD+) is an important cofactor, and NAD+ deficiency plays an important role in the mechanism of DNA repair disorders.
ChromaDex recently published the results of a phase II clinical trial on oral supplementation of nicotinamide riboside (NR) in patients with AT in Movement Disorder.
The study was a single-arm, open-label intervention trial: 10 AT patients took NR orally for a long time at a certain dose to evaluate the safety and efficacy of NR.
The 10 patients, aged 3 to 27 years, received oral doses that were titrated from an initial dose of 150 mg/day to 300 mg/day to a final dose of 500 mg/day.
1) NR supplementation was well tolerated with no serious adverse events;
2) NR supplementation can increase whole blood NAD + levels fourfold;
3) Serum levels of biomarkers associated with AT progression (serum alpha-fetoprotein and neurofilament light chain) are stable, suggesting that NR may slow or delay the progression of AT;
4) Long-term NR supplementation reduces ataxia symptoms and improves motor coordination, eye movements, and overall neurological function;
5) Biomarkers related to liver and kidney function show no clinically significant changes;
6) Long-term glycemic regulation (as measured by HbA1c levels) was stable in all participants;
7) NR supplementation did not induce changes in hematological or immunologically relevant parameters.
*Special note - This article is for informational purposes only and cannot replace a doctor's treatment diagnosis and advice. It should not be regarded as a recommendation or proof of efficacy of the medical products involved. If it involves disease diagnosis, treatment, and rehabilitation, please be sure to go to a professional medical institution to seek professional advice.
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