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NAD Supplementation to Prevent Progressive Neurological Disease in Ataxia Telangiectasia

Ataxia Telangiectasia Clinical Trial

Official title:
NAD Supplementation to Prevent Progressive Neurological Disease in Ataxia Telangiectasia

Clinical Trial Summary

The study investigates the effect of dietary supplementation of nicotinamide ribonucleoside (NR) in children with ataxia telangiectasia (AT), with main focus on neurological symptoms.

Clinical Trial Description

Ataxia Telangiectasia (AT) is a genetic disease, where patients are born with mutations in the Ataxia- Telangiectasia Mutated (ATM) gene. The gene codes for the ATM kinase, which is required for repair of DNA double-stranded breaks and DNA damage response signalling. There is no treatment available for the neurological manifestations of AT. The study investigates the effects of NR (300 mg/day) during 2 years. ;

Study Design

Related Conditions & MeSH terms

Clinical Trial Details
NCT number NCT04870866
Study type Interventional
Source University Hospital, Akershus
Contact
Status Active, not recruiting
Phase Phase 2
Start date June 5, 2019
Completion date June 16, 2027
View Details
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