NAD Supplementation to Prevent Progressive Neurological Disease in Ataxia Telangiectasia

University Hospital, Akershus

Status and phase: Active, not recruiting; Phase 2

Conditions: Ataxia Telangiectasia

Treatments: Drug: Nicotinamide ribonucleoside

Study type: Interventional

Funder types: Other

Identifiers

NCT04870866

2017/419

Details and patient eligibility

About

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

Full 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.

Enrollment: 13 patients

Sex: All

Ages: 3+ years old

Volunteers: No Healthy Volunteers

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

Trial design

Primary purpose: Treatment

Allocation: N/A

Interventional model: Single Group Assignment

Masking: None (Open label)

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13 participants in 1 patient group

NR treated

Experimental group

Description:

Nicotinamide ribonuceloside (NR), sold under the trade name Niagen™

Treatment:

Drug: Nicotinamide ribonucleoside