NAD Supplementation to Prevent Progressive Neurological Disease in Ataxia Telangiectasia

Phase 2

Active, not recruiting

• Conditions: Ataxia Telangiectasia
• Interventions: Drug: Nicotinamide ribonucleoside

• Registration Number: NCT04870866
• Lead Sponsor: University Hospital, Akershus

Brief 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.

Detailed 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 Timeline

• Study Start: 2019-06-05
• Study First Submitted: 2021-04-23
• Study First Submitted QC: 2021-04-28
• Study First Posted: 2021-05-04
• Status Verified: 2022-08
• Last Update Submitted: 2022-08-16
• Last Update Posted: 2022-08-17
• Primary Completion: 2024-09-03
• Study Completion: 2027-06-16

Recruitment & Eligibility

• Status: ACTIVE_NOT_RECRUITING
• Sex: All
• Target Recruitment: 13

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

Study & Design

• Study Type: INTERVENTIONAL
• Study Design: SINGLE_GROUP

Arm && Interventions

Group	Intervention	Description
NR treated	Nicotinamide ribonucleoside	Nicotinamide ribonuceloside (NR), sold under the trade name Niagen™

Primary Outcome Measures

Name	Time	Method
NAD metabolome	2 years	Increase of NAD+ and other stable NAD+ metabolites (referred to as the NAD metabolome) in blood

Secondary Outcome Measures

Name	Time	Method
Patient well being	2 years	Improved or stabilized health-related quality of life (HRQOL) measured with the Pediatric Quality of Life Inventory (PedSQL)
Motoric function - The Scale for the Assessment and Rating of Ataxia (SARA)	2 years	Stabilized motoric function measured with SARA.; The SARA scale is made up of measurements related to gait, stance, sitting, speech, finger-chase test, nose-finger test, fast alternating movements and heel-shin test.; The range is from no ataxia (value 0) to severe ataxia (value 40).
Motoric function - Customized gait scale (GS)	2 years	Stabilized motoric function measured with GS.; The gait scale assess gait functionality in patients with Ataxia-telangiectasia.; The range is from no walking ability (value 0) to normal walking ability according to age and maturity (value 10).
Motoric function - AT Neuro Examination Scale Toolkit, updated version (AT-NEST)	2 years	Stabilized motoric function measured with AT-NEST.; The AT-NEST scale is made from scoring of speech, handwriting/drawing, oculomotor, ataxia, muscle strength, neuropathy, growth, nutrition, learning ability/cognition, MS mental state.; The range is from normal (value 144) to severe ataxia (value 0).
Motoric function - Clinical Global Scale rating instrument for A-T	2 years	Stabilized motoric function measured with Clinical Global Scale rating instrument for A-T.; The Clinical Global Scale rating instrument for A-T scale is made from scoring of gait ataxia, dysmetria, dysarthria, extrapyramidal movements and eye movements.; The range is from normal (value 0) to severe (value 4).
Liver function	2 years	Normalized or stabilized liver function as assessed by blood levels of; -alfa fetoprotein (AFP)
Blood sugar control	2 years	Normalized or stabilized blood sugar levels as measured in blood: -HbA1c
Mitochondrial function	2 years	Normalized or stabilized mitochondrial markers in blood: * lactate; * lactate dehydrogenase; * FGF21
Motoric function - The International Cooperative Ataxia Rating Scale (ICARS)	2 years	Stabilized motoric function measured with ICARS.; The ICARS scale is made from measurements of postural and gait disturbances, limb ataxia, dysarthria, and oculomotor disorders.; The range is from no ataxia (value 0) to severe ataxia (value 100).

Trial Locations

Locations (2)

Hilde Loge Nilsen; 🇳🇴 Lørenskog, Norway

Oslo University Hospital; 🇳🇴 Oslo, Norway