NAD Supplementation to Prevent Progressive Neurological Disease in Ataxia Telangiectasia
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|ClinicalTrials.gov Identifier: NCT04870866|
Recruitment Status : Active, not recruiting
First Posted : May 4, 2021
Last Update Posted : May 7, 2021
|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|
|Intervention Model:||Single Group Assignment|
|Intervention Model Description:||Open label proof of concept|
|Masking:||None (Open Label)|
|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|
Experimental: NR treated
Nicotinamide ribonuceloside (NR), sold under the trade name Niagen™
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:
- Mitochondrial function [ Time Frame: 2 years ]
Normalized or stabilized mitochondrial markers in blood:
- lactate dehydrogenase
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
|Hilde Loge Nilsen|
|Oslo University Hospital|
|Principal Investigator:||Hilde L Nilsen||University Hospital, Akershus|