NAD Supplementation to Prevent Progressive Neurological Disease in Ataxia Telangiectasia
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| ClinicalTrials.gov Identifier: NCT04870866 |
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Recruitment Status :
Active, not recruiting
First Posted : May 4, 2021
Last Update Posted : May 7, 2021
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| Condition or disease | Intervention/treatment | Phase |
|---|---|---|
| Ataxia Telangiectasia | Drug: Nicotinamide ribonucleoside | Phase 2 |
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 (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 |
|---|---|
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Experimental: NR treated
Nicotinamide ribonuceloside (NR), sold under the trade name Niagen™
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Drug: Nicotinamide ribonucleoside
Two year intervention
Other Name: Niagen |
- NAD metabolome [ Time Frame: 2 years ]Increase of NAD+ and other stable NAD+ metabolites (referred to as the NAD metabolome) in blood
- 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)
- 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).
- 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).
- 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).
- 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).
- 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).
- Liver function [ Time Frame: 2 years ]
Normalized or stabilized liver function as assessed by blood levels of
-alfa fetoprotein (AFP)
- Blood sugar control [ Time Frame: 2 years ]
Normalized or stabilized blood sugar levels as measured in blood:
-HbA1c
- 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 |
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
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
| Norway | |
| Hilde Loge Nilsen | |
| Lørenskog, Norway | |
| Oslo University Hospital | |
| Oslo, Norway | |
| Principal Investigator: | Hilde L Nilsen | University Hospital, Akershus |
| 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 |
| 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 |
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ataxia telangiectasia nicotinamide ribonucleoside Louis-Bar syndrome |
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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 |