NAD Supplementation to Prevent Progressive Neurological Disease in Ataxia Telangiectasia

Sponsor

University Hospital, Akershus (Other)

Overall Status

Active, not recruiting

CT.gov ID

NCT04870866

Collaborator

The Bergesen Foundation (Other), South-Eastern Norway Regional Health Authority (Other), Sykehuset Innlandet HF (Other), Oslo University Hospital (Other), St. Olavs Hospital (Other), Haukeland University Hospital (Other), University Hospital of North Norway (Other), University of Bergen (Other)

Enrollment

Locations

Arm

96.4

Anticipated Duration (Months)

6.5

Patients Per Site

0.1

Patients Per Site Per Month

Study Details

Study Description

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.

Condition or Disease	Intervention/Treatment	Phase
Ataxia Telangiectasia	Drug: Nicotinamide ribonucleoside	Phase 2

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 Design

Study Type:

Interventional

Actual Enrollment :

13 participants

Allocation:

N/A

Intervention Model:

Single Group Assignment

Intervention Model Description:

Open label proof of conceptOpen label proof of concept

Masking:

None (Open Label)

Primary Purpose:

Treatment

Official Title:

NAD Supplementation to Prevent Progressive Neurological Disease in Ataxia Telangiectasia

Actual Study Start Date :

Jun 5, 2019

Anticipated Primary Completion Date :

Sep 3, 2024

Anticipated Study Completion Date :

Jun 16, 2027

Arms and Interventions

Arm	Intervention/Treatment
Experimental: NR treated Nicotinamide ribonuceloside (NR), sold under the trade name Niagen™	Drug: Nicotinamide ribonucleoside Two year intervention Other Names: Niagen

Arm

Intervention/Treatment

Experimental: NR treated

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

Drug: Nicotinamide ribonucleoside

Two year intervention

Other Names:

Niagen

Outcome Measures

Primary Outcome Measures

NAD metabolome [2 years]
Increase of NAD+ and other stable NAD+ metabolites (referred to as the NAD metabolome) in blood

Secondary Outcome Measures

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 - 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).
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