NAD Supplementation to Prevent Progressive Neurological Disease in Ataxia Telangiectasia

August 16, 2022 updated by: Hilde Nilsen, University Hospital, Akershus
The study investigates the effect of dietary supplementation of nicotinamide ribonucleoside (NR) in children with ataxia telangiectasia (AT), with main focus on neurological symptoms.

Study Overview

Status

Active, not recruiting

Intervention / Treatment

Detailed Description

Ataxia Telangiectasia (AT) is a genetic disease, where patients are born with mutations in the Ataxia- Telangiectasia Mutated (ATM) gene. The gene codes for the ATM kinase, which is required for repair of DNA double-stranded breaks and DNA damage response signalling.

There is no treatment available for the neurological manifestations of AT.

The study investigates the effects of NR (300 mg/day) during 2 years.

Study Type

Interventional

Enrollment (Actual)

13

Phase

  • Phase 2

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

      • Lørenskog, Norway
        • Hilde Loge Nilsen
      • Oslo, Norway
        • Oslo University Hospital

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

3 years and older (Child, Adult, Older Adult)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Description

Inclusion Criteria:

  • clinically and molecular verified classical A-T disease

Exclusion Criteria:

  • less than 2 years of age
  • participation in other on-going study
  • pregnancy
  • liver failure
  • other severe medical conditions considered to set patient at risk

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Primary Purpose: Treatment
  • Allocation: N/A
  • Interventional Model: Single Group Assignment
  • Masking: None (Open Label)

Arms and Interventions

Participant Group / Arm
Intervention / Treatment
Experimental: NR treated
Nicotinamide ribonuceloside (NR), sold under the trade name Niagen™
Two year intervention
Other Names:
  • Niagen

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
NAD metabolome
Time Frame: 2 years
Increase of NAD+ and other stable NAD+ metabolites (referred to as the NAD metabolome) in blood
2 years

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Patient well being
Time Frame: 2 years
Improved or stabilized health-related quality of life (HRQOL) measured with the Pediatric Quality of Life Inventory (PedSQL)
2 years
Motoric function - The Scale for the Assessment and Rating of Ataxia (SARA)
Time Frame: 2 years

Stabilized motoric function measured with SARA.

The SARA scale is made up of measurements related to gait, stance, sitting, speech, finger-chase test, nose-finger test, fast alternating movements and heel-shin test.

The range is from no ataxia (value 0) to severe ataxia (value 40).

2 years
Motoric function - The International Cooperative Ataxia Rating Scale (ICARS)
Time Frame: 2 years

Stabilized motoric function measured with ICARS.

The ICARS scale is made from measurements of postural and gait disturbances, limb ataxia, dysarthria, and oculomotor disorders.

The range is from no ataxia (value 0) to severe ataxia (value 100).

2 years
Motoric function - Customized gait scale (GS)
Time Frame: 2 years

Stabilized motoric function measured with GS.

The gait scale assess gait functionality in patients with Ataxia-telangiectasia.

The range is from no walking ability (value 0) to normal walking ability according to age and maturity (value 10).

2 years
Motoric function - AT Neuro Examination Scale Toolkit, updated version (AT-NEST)
Time Frame: 2 years

Stabilized motoric function measured with AT-NEST.

The AT-NEST scale is made from scoring of speech, handwriting/drawing, oculomotor, ataxia, muscle strength, neuropathy, growth, nutrition, learning ability/cognition, MS mental state.

The range is from normal (value 144) to severe ataxia (value 0).

2 years
Motoric function - Clinical Global Scale rating instrument for A-T
Time Frame: 2 years

Stabilized motoric function measured with Clinical Global Scale rating instrument for A-T.

The Clinical Global Scale rating instrument for A-T scale is made from scoring of gait ataxia, dysmetria, dysarthria, extrapyramidal movements and eye movements.

The range is from normal (value 0) to severe (value 4).

2 years
Liver function
Time Frame: 2 years

Normalized or stabilized liver function as assessed by blood levels of

-alfa fetoprotein (AFP)

2 years
Blood sugar control
Time Frame: 2 years

Normalized or stabilized blood sugar levels as measured in blood:

-HbA1c

2 years
Mitochondrial function
Time Frame: 2 years

Normalized or stabilized mitochondrial markers in blood:

  • lactate
  • lactate dehydrogenase
  • FGF21
2 years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

June 5, 2019

Primary Completion (Anticipated)

September 3, 2024

Study Completion (Anticipated)

June 16, 2027

Study Registration Dates

First Submitted

April 23, 2021

First Submitted That Met QC Criteria

April 28, 2021

First Posted (Actual)

May 4, 2021

Study Record Updates

Last Update Posted (Actual)

August 17, 2022

Last Update Submitted That Met QC Criteria

August 16, 2022

Last Verified

August 1, 2022

More Information

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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