NAD Supplementation to Prevent Progressive Neurological Disease in Ataxia Telangiectasia

Phase 2Active Not RecruitingNCT04870866

University Hospital, Akershus13 enrolled

Overview

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.

Study Type

INTERVENTIONAL

Allocation

Purpose

TREATMENT

Masking

NONE

Enrollment

Conditions

Ataxia Telangiectasia

Interventions

Nicotinamide ribonucleosideDRUG

Two year intervention

Eligibility

Sex: ALLMin age: 3 Years

Medical Language ↔ Plain English

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

Locations (2)

Hilde Loge Nilsen

Lørenskog, Norway

Oslo University Hospital

Oslo, Norway

Outcomes

Primary Outcomes

NAD metabolome

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

Time frame: 2 years

Secondary Outcomes

Patient well being

Improved or stabilized health-related quality of life (HRQOL) measured with the Pediatric Quality of Life Inventory (PedSQL)

Time frame: 2 years

Motoric function - The Scale for the Assessment and Rating of Ataxia (SARA)

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).

Time frame: 2 years

Motoric function - The International Cooperative Ataxia Rating Scale (ICARS)

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).

Time frame: 2 years

Motoric function - Customized gait scale (GS)

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).

Time frame: 2 years

Motoric function - AT Neuro Examination Scale Toolkit, updated version (AT-NEST)

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).

Data from ClinicalTrials.gov

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