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Effects of Vitamin B3 in Patients With Ataxia Telangiectasia

Primary Purpose

Ataxia Telangiectasia, ATM Gene Mutation

Status
Completed
Phase
Phase 2
Locations
Netherlands
Study Type
Interventional
Intervention
Vitamin B3
Sponsored by
Radboud University Medical Center
About
Eligibility
Locations
Arms
Outcomes
Full info

About this trial

This is an interventional treatment trial for Ataxia Telangiectasia focused on measuring Ataxia Telangiectasia, ATM Gene Mutation, ATM protein, Nicotinamide riboside

Eligibility Criteria

2 Years - undefined (Child, Adult, Older Adult)All SexesDoes not accept healthy volunteers

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.

Sites / Locations

  • Radboudumc

Arms of the Study

Arm 1

Arm Type

Experimental

Arm Label

Intervention group

Arm Description

treatment with vitamin B3

Outcomes

Primary Outcome Measures

Ataxia, SARA (Scale of the assesment and rating of ataxia)
Changes in the total score will be measured.
Ataxia, ICARS (International Cooperative Ataxia Rating Scale)
Changes in the total score will be measured.
Ataxia, 9-hole pegboard test.
Changes in fastes time of the 9-hole pegboard test will be measured.
Dysarthria, Radboud dysarthria assesment (RDA)
Changes in maximum performance tasks and severity of dysarthria will be measured.

Secondary Outcome Measures

Quality of life questionnaire EuroQoL 5 Dimensions 5 Levels (EQ-5D-5L)
Changes in the total quality of life score will be measured.
Laboratory measurements
Results will be summarized descriptively, with abnormal and clinically notable values/findings being identified
Intelligibility, Intelligibility in Context Scale (ICS)
Changes in the total score of the Intelligibility in Context Scale (ICS), will be measured.
Fatigue, Visual Analogous Scale (VAS)
Changes in the total VAS score will be measured.

Full Information

First Posted
April 11, 2019
Last Updated
July 21, 2022
Sponsor
Radboud University Medical Center
Collaborators
A-T Children's Project, Twan foundation (https://twanfoundation.nl)
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1. Study Identification

Unique Protocol Identification Number
NCT03962114
Brief Title
Effects of Vitamin B3 in Patients With Ataxia Telangiectasia
Official Title
Effects of Nicotinamide Riboside (Vitamin B3) in Patients With Ataxia Telangiectasia.
Study Type
Interventional

2. Study Status

Record Verification Date
March 2019
Overall Recruitment Status
Completed
Study Start Date
March 18, 2019 (Actual)
Primary Completion Date
December 1, 2019 (Actual)
Study Completion Date
March 1, 2020 (Actual)

3. Sponsor/Collaborators

Responsible Party, by Official Title
Sponsor
Name of the Sponsor
Radboud University Medical Center
Collaborators
A-T Children's Project, Twan foundation (https://twanfoundation.nl)

4. Oversight

Studies a U.S. FDA-regulated Drug Product
No
Studies a U.S. FDA-regulated Device Product
No
Product Manufactured in and Exported from the U.S.
Yes
Data Monitoring Committee
No

5. Study Description

Brief Summary
This clinical trial investigates the effects of nicotinamide riboside (vitamin B3) on the disease course of patients with ataxia telangiectasia. Patients will be treated during four consecutive months with nicotinamide riboside (25mg/kg/day), followed by a washout period of two months. Main study parameters/endpoints: Ataxia, dysarthria, quality of life, laboratory parameters.
Detailed Description
Rationale: Ataxia Telangiectasia (A-T) is an autosomal recessively inherited neurodegenerative disorder, with a high cancer risk, 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. A-T is caused by mutations in the ATM gene. The ATM protein plays a pivotal role in more than 100 different biochemical processes, among which cellular energy metabolism, cell signaling, and DNA repair. Nicotinamide adenine dinucleotide (NAD+) is an essential molecule in many of these processes and studies have shown that NAD+ deficiency plays a role in disease mechanisms underlying DNA repair disorders such as A-T. 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 NR showed beneficial effects. The aim of this study is to investigate whether treatment with NR during a period of six months may have positive effects on the disease course of patients with A-T. Objective: To investigate the effects of NR on the disease course of patients with ataxia telangiectasia. Study design: Single center, interventional, explorative, open-label proof of concept study. Study population: Patients with A-T (age >2 years). Intervention (if applicable): Patients will be treated with nicotinamide riboside (25mg/kg/day), during four consecutive months, followed by a washout period of two months. Main study parameters/endpoints: Ataxia, dysarthria, quality of life, laboratory parameters.

6. Conditions and Keywords

Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
Ataxia Telangiectasia, ATM Gene Mutation
Keywords
Ataxia Telangiectasia, ATM Gene Mutation, ATM protein, Nicotinamide riboside

7. Study Design

Primary Purpose
Treatment
Study Phase
Phase 2
Interventional Study Model
Single Group Assignment
Model Description
Open label proof of concept study
Masking
None (Open Label)
Allocation
N/A
Enrollment
24 (Actual)

8. Arms, Groups, and Interventions

Arm Title
Intervention group
Arm Type
Experimental
Arm Description
treatment with vitamin B3
Intervention Type
Dietary Supplement
Intervention Name(s)
Vitamin B3
Other Intervention Name(s)
Nicotinamide riboside
Intervention Description
capsules with niagen
Primary Outcome Measure Information:
Title
Ataxia, SARA (Scale of the assesment and rating of ataxia)
Description
Changes in the total score will be measured.
Time Frame
change from baseline -1 month - 4 months - 6 months
Title
Ataxia, ICARS (International Cooperative Ataxia Rating Scale)
Description
Changes in the total score will be measured.
Time Frame
change from baseline -1 month - 4 months - 6 months
Title
Ataxia, 9-hole pegboard test.
Description
Changes in fastes time of the 9-hole pegboard test will be measured.
Time Frame
change from baseline -1 month - 4 months - 6 months
Title
Dysarthria, Radboud dysarthria assesment (RDA)
Description
Changes in maximum performance tasks and severity of dysarthria will be measured.
Time Frame
change from baseline -1 month - 4 months - 6 months
Secondary Outcome Measure Information:
Title
Quality of life questionnaire EuroQoL 5 Dimensions 5 Levels (EQ-5D-5L)
Description
Changes in the total quality of life score will be measured.
Time Frame
change from baseline -1 month - 4 months - 6 months
Title
Laboratory measurements
Description
Results will be summarized descriptively, with abnormal and clinically notable values/findings being identified
Time Frame
change from baseline -1 month - 4 months - 6 months
Title
Intelligibility, Intelligibility in Context Scale (ICS)
Description
Changes in the total score of the Intelligibility in Context Scale (ICS), will be measured.
Time Frame
change from baseline -1 month - 4 months - 6 months
Title
Fatigue, Visual Analogous Scale (VAS)
Description
Changes in the total VAS score will be measured.
Time Frame
change from baseline -1 month - 4 months - 6 months

10. Eligibility

Sex
All
Minimum Age & Unit of Time
2 Years
Accepts Healthy Volunteers
No
Eligibility 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: 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.
Overall Study Officials:
First Name & Middle Initial & Last Name & Degree
Michel Willemsen, Prof.
Organizational Affiliation
michel.willemsen@radboudumc.nl
Official's Role
Principal Investigator
Facility Information:
Facility Name
Radboudumc
City
Nijmegen
ZIP/Postal Code
6525 GA
Country
Netherlands

12. IPD Sharing Statement

Plan to Share IPD
No

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Effects of Vitamin B3 in Patients With Ataxia Telangiectasia

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