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| Name | Class |
|---|---|
| The Bergesen Foundation | OTHER |
| South-Eastern Norway Regional Health Authority | OTHER |
| Sykehuset Innlandet HF | OTHER |
| Oslo University Hospital |
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The study investigates the effect of dietary supplementation of nicotinamide ribonucleoside (NR) in children with ataxia telangiectasia (AT), with main focus on neurological symptoms.
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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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| NR treated | Experimental | Nicotinamide ribonuceloside (NR), sold under the trade name Niagenâ„¢ |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Nicotinamide ribonucleoside | Drug | Two year intervention |
|
|
| Measure | Description | Time Frame |
|---|---|---|
| NAD metabolome | Increase of NAD+ and other stable NAD+ metabolites (referred to as the NAD metabolome) in blood | 2 years |
| Measure | Description | Time Frame |
|---|---|---|
| Patient well being | 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) |
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Inclusion Criteria:
Exclusion Criteria:
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| Name | Affiliation | Role |
|---|---|---|
| Hilde L Nilsen | University Hospital, Akershus | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Hilde Loge Nilsen | Lørenskog | Norway | ||||
| Oslo University Hospital |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 27732836 | Background | Fang EF, Kassahun H, Croteau DL, Scheibye-Knudsen M, Marosi K, Lu H, Shamanna RA, Kalyanasundaram S, Bollineni RC, Wilson MA, Iser WB, Wollman BN, Morevati M, Li J, Kerr JS, Lu Q, Waltz TB, Tian J, Sinclair DA, Mattson MP, Nilsen H, Bohr VA. NAD+ Replenishment Improves Lifespan and Healthspan in Ataxia Telangiectasia Models via Mitophagy and DNA Repair. Cell Metab. 2016 Oct 11;24(4):566-581. doi: 10.1016/j.cmet.2016.09.004. |
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| ID | Term |
|---|---|
| D001260 | Ataxia Telangiectasia |
| ID | Term |
|---|---|
| D020754 | Spinocerebellar Ataxias |
| D002524 | Cerebellar Ataxia |
| D002526 | Cerebellar Diseases |
| D001927 | Brain Diseases |
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| ID | Term |
|---|---|
| C018613 | nicotinamide-beta-riboside |
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| OTHER |
| St. Olavs Hospital | OTHER |
| Haukeland University Hospital | OTHER |
| University Hospital of North Norway | OTHER |
| University of Bergen | OTHER |
Open label proof of concept
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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) | 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) | 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) | 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 | 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 |
| Liver function | Normalized or stabilized liver function as assessed by blood levels of -alfa fetoprotein (AFP) | 2 years |
| Blood sugar control | Normalized or stabilized blood sugar levels as measured in blood: -HbA1c | 2 years |
| Mitochondrial function | Normalized or stabilized mitochondrial markers in blood:
| 2 years |
| Oslo |
| Norway |
| D002493 |
| Central Nervous System Diseases |
| D009422 | Nervous System Diseases |
| D020752 | Neurocutaneous Syndromes |
| D001259 | Ataxia |
| D020820 | Dyskinesias |
| D009461 | Neurologic Manifestations |
| D013684 | Telangiectasis |
| D014652 | Vascular Diseases |
| D002318 | Cardiovascular Diseases |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D000081207 | Primary Immunodeficiency Diseases |
| D049914 | DNA Repair-Deficiency Disorders |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |
| D007153 | Immunologic Deficiency Syndromes |
| D007154 | Immune System Diseases |