Skip to main content
OpenTrials
Active, Not Recruiting

NCT Number: NCT04870866

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.

Active, Not Recruiting

This study is active but is not currently recruiting participants.

Key information

Conditions

Ataxia Telangiectasia Ataxia Brain Diseases Cardiovascular Diseases Central Nervous System Diseases Cerebellar Ataxia Cerebellar Diseases Congenital, Hereditary, and Neonatal Diseases and Abnormalities DNA Repair-Deficiency Disorders Dyskinesias Genetic Diseases, Inborn Immune System Diseases Immunologic Deficiency Syndromes Metabolic Diseases Nervous System Diseases Neurocutaneous Syndromes Neurologic Manifestations Nutritional and Metabolic Diseases Primary Immunodeficiency Diseases Spinocerebellar Ataxias Telangiectasis Vascular Diseases

Age range

3 year and older

Sex eligibility

All sexes

Study type

Interventional

Phase

Phase 2

Primary location

Hilde Loge Nilsen, Lørenskog, Norway

Loading trial locations.

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Nicotinamide ribonucleoside

Drug

Two year intervention

Other names: Niagen

Primary outcomes

  1. NAD metabolome

    Time frame: 2 years

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

Secondary outcomes

  1. Patient well being

    Time frame: 2 years

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

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

    Time frame: 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).

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

    Time frame: 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).

  4. Motoric function - Customized gait scale (GS)

    Time frame: 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).

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

    Time frame: 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).

  6. Motoric function - Clinical Global Scale rating instrument for A-T

    Time frame: 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).

  7. Liver function

    Time frame: 2 years

    Normalized or stabilized liver function as assessed by blood levels of

    -alfa fetoprotein (AFP)

  8. Blood sugar control

    Time frame: 2 years

    Normalized or stabilized blood sugar levels as measured in blood:

    -HbA1c

  9. Mitochondrial function

    Time frame: 2 years

    Normalized or stabilized mitochondrial markers in blood:

    • lactate
    • lactate dehydrogenase
    • FGF21

Sponsors and collaborators

Lead sponsor

University Hospital, Akershus

Other

Collaborators

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

Registry information

Important dates

Study start
2019
Primary completion
2024
Study completion
2027
First posted
May 4, 2021
Registry last updated
Aug 17, 2022

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Related clinical trials

Published trials that share one or more normalized conditions with this study.