NCT03962114

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.

Trial Health

87
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
24

participants targeted

Target at below P25 for phase_2

Timeline
Completed

Started Mar 2019

Shorter than P25 for phase_2

Geographic Reach
1 country

1 active site

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

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Study Timeline

Key milestones and dates

Study Start

First participant enrolled

March 18, 2019

Completed
24 days until next milestone

First Submitted

Initial submission to the registry

April 11, 2019

Completed
1 month until next milestone

First Posted

Study publicly available on registry

May 23, 2019

Completed
6 months until next milestone

Primary Completion

Last participant's last visit for primary outcome

December 1, 2019

Completed
3 months until next milestone

Study Completion

Last participant's last visit for all outcomes

March 1, 2020

Completed
Last Updated

July 25, 2022

Status Verified

March 1, 2019

Enrollment Period

9 months

First QC Date

April 11, 2019

Last Update Submit

July 21, 2022

Conditions

Ataxia TelangiectasiaATM Gene Mutation

Keywords

Ataxia TelangiectasiaATM Gene MutationATM proteinNicotinamide riboside

Outcome Measures

Primary Outcomes (4)

  • Ataxia, SARA (Scale of the assesment and rating of ataxia)

    Changes in the total score will be measured.

    change from baseline -1 month - 4 months - 6 months

  • Ataxia, ICARS (International Cooperative Ataxia Rating Scale)

    Changes in the total score will be measured.

    change from baseline -1 month - 4 months - 6 months

  • Ataxia, 9-hole pegboard test.

    Changes in fastes time of the 9-hole pegboard test will be measured.

    change from baseline -1 month - 4 months - 6 months

  • Dysarthria, Radboud dysarthria assesment (RDA)

    Changes in maximum performance tasks and severity of dysarthria will be measured.

    change from baseline -1 month - 4 months - 6 months

Secondary Outcomes (4)

  • Quality of life questionnaire EuroQoL 5 Dimensions 5 Levels (EQ-5D-5L)

    change from baseline -1 month - 4 months - 6 months

  • Laboratory measurements

    change from baseline -1 month - 4 months - 6 months

  • Intelligibility, Intelligibility in Context Scale (ICS)

    change from baseline -1 month - 4 months - 6 months

  • Fatigue, Visual Analogous Scale (VAS)

    change from baseline -1 month - 4 months - 6 months

Study Arms (1)

Intervention group

EXPERIMENTAL

treatment with vitamin B3

Dietary Supplement: Vitamin B3

Interventions

Vitamin B3DIETARY_SUPPLEMENT

capsules with niagen

Also known as: Nicotinamide riboside
Intervention group

Eligibility Criteria

Age2 Years+
Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

  • 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.

You may not qualify if:

  • 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.

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Radboudumc

Nijmegen, 6525 GA, Netherlands

Location

MeSH Terms

Conditions

Ataxia TelangiectasiaHereditary Sensory and Autonomic Neuropathies

Interventions

Niacinamidenicotinamide-beta-riboside

Condition Hierarchy (Ancestors)

Spinocerebellar AtaxiasCerebellar AtaxiaCerebellar DiseasesBrain DiseasesCentral Nervous System DiseasesNervous System DiseasesNeurocutaneous SyndromesAtaxiaDyskinesiasNeurologic ManifestationsTelangiectasisVascular DiseasesCardiovascular DiseasesGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesPrimary Immunodeficiency DiseasesDNA Repair-Deficiency DisordersMetabolic DiseasesNutritional and Metabolic DiseasesImmunologic Deficiency SyndromesImmune System DiseasesNervous System MalformationsHeredodegenerative Disorders, Nervous SystemNeurodegenerative DiseasesPolyneuropathiesPeripheral Nervous System DiseasesNeuromuscular DiseasesCongenital Abnormalities

Intervention Hierarchy (Ancestors)

Nicotinic AcidsAcids, HeterocyclicHeterocyclic CompoundsPyridinesHeterocyclic Compounds, 1-Ring

Study Officials

  • Michel Willemsen, Prof.

    michel.willemsen@radboudumc.nl

    PRINCIPAL INVESTIGATOR

Study Design

Study Type
interventional
Phase
phase 2
Allocation
NA
Masking
NONE
Purpose
TREATMENT
Intervention Model
SINGLE GROUP
Model Details: Open label proof of concept study
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

April 11, 2019

First Posted

May 23, 2019

Study Start

March 18, 2019

Primary Completion

December 1, 2019

Study Completion

March 1, 2020

Last Updated

July 25, 2022

Record last verified: 2019-03

Data Sharing

IPD Sharing
Will not share

Locations

NL(1)