NAD Supplementation to Prevent Progressive Neurological Disease in Ataxia Telangiectasia

NAD Supplementation to Prevent Progressive Neurological Disease in Ataxia Telangiectasia

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

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.

Inclusion Criteria:

• clinically and molecular verified classical A-T disease

Exclusion Criteria:

• less than 2 years of age
• participation in other on-going study
• pregnancy
• liver failure
• other severe medical conditions considered to set patient at risk