- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT04870866
NAD Supplementation to Prevent Progressive Neurological Disease in Ataxia Telangiectasia
Study Overview
Status
Conditions
Intervention / Treatment
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 Type
Enrollment (Actual)
Phase
- Phase 2
Contacts and Locations
Study Locations
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-
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Lørenskog, Norway
- Hilde Loge Nilsen
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Oslo, Norway
- Oslo University Hospital
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Participation Criteria
Eligibility Criteria
Ages Eligible for Study
Accepts Healthy Volunteers
Genders Eligible for Study
Description
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 Plan
How is the study designed?
Design Details
- Primary Purpose: Treatment
- Allocation: N/A
- Interventional Model: Single Group Assignment
- Masking: None (Open Label)
Arms and Interventions
Participant Group / Arm |
Intervention / Treatment |
---|---|
Experimental: NR treated
Nicotinamide ribonuceloside (NR), sold under the trade name Niagen™
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Two year intervention
Other Names:
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What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
NAD metabolome
Time Frame: 2 years
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Increase of NAD+ and other stable NAD+ metabolites (referred to as the NAD metabolome) in blood
|
2 years
|
Secondary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
Patient well being
Time Frame: 2 years
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Improved or stabilized health-related quality of life (HRQOL) measured with the Pediatric Quality of Life Inventory (PedSQL)
|
2 years
|
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). |
2 years
|
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). |
2 years
|
Motoric function - Customized gait scale (GS)
Time Frame: 2 years
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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). |
2 years
|
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). |
2 years
|
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). |
2 years
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Liver function
Time Frame: 2 years
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Normalized or stabilized liver function as assessed by blood levels of -alfa fetoprotein (AFP) |
2 years
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Blood sugar control
Time Frame: 2 years
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Normalized or stabilized blood sugar levels as measured in blood: -HbA1c |
2 years
|
Mitochondrial function
Time Frame: 2 years
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Normalized or stabilized mitochondrial markers in blood:
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2 years
|
Collaborators and Investigators
Sponsor
Collaborators
Investigators
- Principal Investigator: Hilde L Nilsen, University Hospital, Akershus
Publications and helpful links
Study record dates
Study Major Dates
Study Start (Actual)
Primary Completion (Anticipated)
Study Completion (Anticipated)
Study Registration Dates
First Submitted
First Submitted That Met QC Criteria
First Posted (Actual)
Study Record Updates
Last Update Posted (Actual)
Last Update Submitted That Met QC Criteria
Last Verified
More Information
Terms related to this study
Additional Relevant MeSH Terms
- Cardiovascular Diseases
- Vascular Diseases
- Metabolic Diseases
- Brain Diseases
- Central Nervous System Diseases
- Immunologic Deficiency Syndromes
- Immune System Diseases
- Neurologic Manifestations
- Genetic Diseases, Inborn
- Dyskinesias
- DNA Repair-Deficiency Disorders
- Neurocutaneous Syndromes
- Cerebellar Diseases
- Primary Immunodeficiency Diseases
- Spinocerebellar Ataxias
- Nervous System Diseases
- Ataxia
- Telangiectasis
- Cerebellar Ataxia
- Ataxia Telangiectasia
- Physiological Effects of Drugs
- Molecular Mechanisms of Pharmacological Action
- Vasodilator Agents
- Antimetabolites
- Micronutrients
- Hypolipidemic Agents
- Lipid Regulating Agents
- Vitamins
- Vitamin B Complex
- Nicotinic Acids
- Niacinamide
- Niacin
Other Study ID Numbers
- 2017/419
Plan for Individual participant data (IPD)
Plan to Share Individual Participant Data (IPD)?
Drug and device information, study documents
Studies a U.S. FDA-regulated drug product
Studies a U.S. FDA-regulated device product
product manufactured in and exported from the U.S.
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.
Clinical Trials on Ataxia Telangiectasia
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