The purpose of this research is to investigate whether treatment with nicotinamide riboside (vitamine B3) has a positive effect on the disease course of patients with ataxia telangiectasia.
ID
Source
Brief title
Condition
- Immunodeficiency syndromes
- Movement disorders (incl parkinsonism)
- Lower respiratory tract disorders (excl obstruction and infection)
Synonym
Research involving
Sponsors and support
Intervention
Outcome measures
Primary outcome
Primary Objective:
To assess changes in motor performance (ataxia and dysarthria) during the
treatment period with NR.
Secondary outcome
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.
Background summary
Ataxia Telangiectasia (A-T) is an autosomal recessively inherited
neurodegenerative disorder that also affects the immune and respiratory system.
Therapy for A-T is restricted to symptomatic treatment including rehabilitation
care, combined with infection prevention and treatment, and screening for
pulmonary dysfunction and malignancies.
Nicotinamide adenine dinucleotide (NAD+) is a molecule that plays a pivotal
role in many cell processes such as energy metabolism, cell signaling , and DNA
repair. Studies have showed that NAD+ deficiency plays a role in disease
mechanisms underlying DNA repair disorders such as Ataxia-Telangiectasia.
NAD+ is available in food, but can also be synthesized in the body from its
precursors nicotinamide, nicotinic acid, and nicotinamide riboside (NR), as a
group called *vitamin B3*.
Treatment of experimental A-T animal models with nicotinamide riboside leads to
an important decrease of their neurological symptoms, increases their survival,
and improves biochemical parameters.
The aim of this study is to investigate whether treatment with NR during a
period of six months indeed has a positive effect on the disease course of
patients with A-T.
Study objective
The purpose of this research is to investigate whether treatment with
nicotinamide riboside (vitamine B3) has a positive effect on the disease course
of patients with ataxia telangiectasia.
Study design
This is a single center, explorative, interventional, open-label proof of
concept study in an (outpatient) hospital setting
Included patients will start treatment with NR during four consecutive months.
During the study period, included patients will visit the outpatient clinic at
least 4 times. During these visits the clinical measures, questionnaires and
laboratory tests will be performed.
Intervention
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.
Study burden and risks
The use of NR is considered safe. First of all, NR is FDA-approved.
In addition, dosage of NR is based on aforementioned clinical studies. At the
same time, we will determine laboratory measurements during the study period to
overcome adverse effects of using NR.
Geert Grooteplein Zuid 10
Nijmegen 6525 GA
NL
Geert Grooteplein Zuid 10
Nijmegen 6525 GA
NL
Listed location countries
Age
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
-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
Recruitment
Followed up by the following (possibly more current) registration
No registrations found.
Other (possibly less up-to-date) registrations in this register
No registrations found.
In other registers
| Register | ID |
|---|---|
| CCMO | NL68197.091.18 |