Effects of nicotinamide riboside (vitamin B3) in patients with Ataxia Telangiectasia
- Conditions
- A-TLouis Bar syndrome100214601002803710024967
- Registration Number
- NL-OMON48100
- Lead Sponsor
- Radboud Universitair Medisch Centrum
- Brief Summary
Not available
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- Completed
- Sex
- Not specified
- Target Recruitment
- 25
-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
-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
Study & Design
- Study Type
- Interventional
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method <p>Primary Objective:<br /><br>To assess changes in motor performance (ataxia and dysarthria) during the<br /><br>treatment period with NR.</p><br>
- Secondary Outcome Measures
Name Time Method <p>Secondary objectives:<br /><br>- To assess any changes in quality of life of A-T patients during the treatment<br /><br>period with NR.<br /><br>If changes occur in primary objectives (ataxia or dysarthria), it is<br /><br>conceivable that this affects<br /><br>quality of life.<br /><br>- To assess any changes in laboratory parameters that are known to be abnormal<br /><br>in most patients with A-T during the treatment period with NR. These values are<br /><br>an objective measurement to investigate the effect of NR in patients with A-T. </p><br>