A-T Louis Bar syndrome
Conditions
Interventions
Patients will be treated with nicotinamide riboside, 25mg/kg/day divided over
two or three gifts, with a maximum dose of 900mg/day, during four consecutive
months.
Sponsors
Radboud Universitair Medisch Centrum
Eligibility
Age
2 Years to 99 Years
Inclusion criteria
Inclusion criteria: -A-T patients who visit our outpatient clinic -Genetically confirmed diagnosis of A-T by the identification of pathogenic mutations of the ATM gene. -Age * 2 years or older and bodyweight * 12 Kg -Informed consent
Exclusion criteria
Exclusion criteria: -Additional medical condition or illness that impair the patient*s ability to participate in the study (e.g. actual treatment of a malignancy, active infection, poorly controlled diabetes mellitus, hypertension, organ failure, clinically significant hematological or biochemical abnormalities different from the usual abnormalities in A-T) -Elevated serum transaminases (> 2 times upper limit of normal) -Participation in another interventional study at start of the study or during the study -pregnancy/ breastfeeding
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Primary Objective: To assess changes in motor performance (ataxia and dysarthria) during the treatment period with NR. | — |
Secondary
| Measure | Time frame |
|---|---|
| Secondary objectives: - To assess any changes in quality of life of A-T patients during the treatment period with NR. If changes occur in primary objectives (ataxia or dysarthria), it is conceivable that this affects quality of life. - To assess any changes in laboratory parameters that are known to be abnormal in most patients with A-T during the treatment period with NR. These values are an objective measurement to investigate the effect of NR in patients with A-T. | — |
Countries
Netherlands
Outcome results
None listed