Ataxia Telangiectasia
Conditions
Keywords
ataxia telangiectasia, nicotinamide ribonucleoside, Louis-Bar syndrome
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.
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.
Interventions
DRUGNicotinamide ribonucleoside
Two year intervention
Sponsors
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
University Hospital, Akershus
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
TREATMENT
Masking
NONE
Intervention model description
Open label proof of concept
Eligibility
Sex/Gender
ALL
Age
3 Years to No maximum
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| NAD metabolome | 2 years | Increase of NAD+ and other stable NAD+ metabolites (referred to as the NAD metabolome) in blood |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Motoric function - The Scale for the Assessment and Rating of Ataxia (SARA) | 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) | 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) | 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) | 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). |
| Patient well being | 2 years | Improved or stabilized health-related quality of life (HRQOL) measured with the Pediatric Quality of Life Inventory (PedSQL) |
| Liver function | 2 years | Normalized or stabilized liver function as assessed by blood levels of -alfa fetoprotein (AFP) |
| Blood sugar control | 2 years | Normalized or stabilized blood sugar levels as measured in blood: -HbA1c |
| Mitochondrial function | 2 years | Normalized or stabilized mitochondrial markers in blood: * lactate * lactate dehydrogenase * FGF21 |
| Motoric function - Clinical Global Scale rating instrument for A-T | 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). |
Countries
Norway
Outcome results
None listed