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NAD Supplementation to Prevent Progressive Neurological Disease in Ataxia Telangiectasia

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT04870866
Recruitment Status : Active, not recruiting
First Posted : May 4, 2021
Last Update Posted : May 7, 2021
Sponsor:
Collaborators:
The Bergesen Foundation
South-Eastern Norway Regional Health Authority
Sykehuset Innlandet HF
Oslo University Hospital
St. Olavs Hospital
Haukeland University Hospital
University Hospital of North Norway
University of Bergen
Information provided by (Responsible Party):
Hilde Nilsen, 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.

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.

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Study Type : Interventional  (Clinical Trial)
Actual Enrollment : 13 participants
Allocation: N/A
Intervention Model: Single Group Assignment
Intervention Model Description: Open 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 : June 5, 2019
Estimated Primary Completion Date : February 3, 2022
Estimated Study Completion Date : February 16, 2027


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




Primary Outcome Measures :
  1. NAD metabolome [ Time Frame: 2 years ]
    Increase of NAD+ and other stable NAD+ metabolites (referred to as the NAD metabolome) in blood


Secondary Outcome Measures :
  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



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Ages Eligible for Study:   3 Years and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Criteria

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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT04870866


Locations
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Norway
Hilde Loge Nilsen
Lørenskog, Norway
Oslo University Hospital
Oslo, Norway
Sponsors and Collaborators
University Hospital, Akershus
The Bergesen Foundation
South-Eastern Norway Regional Health Authority
Sykehuset Innlandet HF
Oslo University Hospital
St. Olavs Hospital
Haukeland University Hospital
University Hospital of North Norway
University of Bergen
Investigators
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Principal Investigator: Hilde L Nilsen University Hospital, Akershus
Publications:
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Responsible Party: Hilde Nilsen, Professor, University Hospital, Akershus
ClinicalTrials.gov Identifier: NCT04870866    
Other Study ID Numbers: 2017/419
First Posted: May 4, 2021    Key Record Dates
Last Update Posted: May 7, 2021
Last Verified: May 2021
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

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Studies a U.S. FDA-regulated Drug Product: Yes
Studies a U.S. FDA-regulated Device Product: No
Product Manufactured in and Exported from the U.S.: Yes
Keywords provided by Hilde Nilsen, University Hospital, Akershus:
ataxia telangiectasia
nicotinamide ribonucleoside
Louis-Bar syndrome
Additional relevant MeSH terms:
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Ataxia
Cerebellar Ataxia
Nervous System Diseases
Ataxia Telangiectasia
Telangiectasis
Dyskinesias
Neurologic Manifestations
Cerebellar Diseases
Brain Diseases
Central Nervous System Diseases
Vascular Diseases
Cardiovascular Diseases
Spinocerebellar Ataxias
Neurocutaneous Syndromes
Genetic Diseases, Inborn
Primary Immunodeficiency Diseases
DNA Repair-Deficiency Disorders
Metabolic Diseases
Immunologic Deficiency Syndromes
Immune System Diseases
Niacinamide
Niacin
Nicotinic Acids
Vitamin B Complex
Vitamins
Micronutrients
Physiological Effects of Drugs
Hypolipidemic Agents
Antimetabolites
Molecular Mechanisms of Pharmacological Action