Effects of Vitamin B3 in Patients With Ataxia Telangiectasia

Plain-language summary

This study examined the effects of Vitamin B3 in patients with ataxia telangiectasia, an inherited condition caused by mutations in the ATM gene. Patients aged 2 and older weighing at least 12 kg with a genetically confirmed ATM diagnosis were eligible. The study was carried out in Phase 2 and has been completed.

The summary above is a plain-language rendering of the official record. The original English title is shown for reference.

Trial details

Phase

Phase 2

Status

Completed

Sponsor

Radboud University Medical Center

Intervention

Vitamin B3

Start date

3/18/2019

Estimated completion

3/1/2020

Countries

Netherlands

Related genes

Locations

• Nijmegen, Netherlands

Eligibility criteria

Criteria are reproduced from the ClinicalTrials.gov record in the original English. Only the trial team can determine eligibility.

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.
* Breast feeding.