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Trial details imported from ClinicalTrials.gov

For full trial details, please see the original record at https://clinicaltrials.gov/study/NCT06324877




Registration number
NCT06324877
Ethics application status
Date submitted
15/03/2024
Date registered
22/03/2024

Titles & IDs
Public title
Ataxia-telangiectasia: Treating Mitochondrial Dysfunction With Nicotinamide Riboside
Scientific title
Single Arm Open-label Clinical Trial in Ataxia-telangiectasia to Test the Effects of Nicotinamide Riboside on Ataxia Scales, Immune Function, and Neurofilament Light Chain.
Secondary ID [1] 0 0
HREC/24/QCHQ/106030
Universal Trial Number (UTN)
Trial acronym
ATNAD
Linked study record

Health condition
Health condition(s) or problem(s) studied:
Ataxia Telangiectasia 0 0
Condition category
Condition code
Neurological 0 0 0 0
Other neurological disorders
Neurological 0 0 0 0
Neurodegenerative diseases
Human Genetics and Inherited Disorders 0 0 0 0
Other human genetics and inherited disorders
Cardiovascular 0 0 0 0
Diseases of the vasculature and circulation including the lymphatic system

Intervention/exposure
Study type
Interventional
Description of intervention(s) / exposure
Treatment: Drugs - Nicotinamide riboside

Other: Single arm (full group) - Single arm, open-label. Dose will be via oral capsule supplementation Nicotinamide Riboside at 25mg/kg/day divided into 3 doses (max 300mgs 3 times per day). Dosing will occur via 3 equal doses 3 times a day for 12 months.


Treatment: Drugs: Nicotinamide riboside
Oral capsule Nicotinamide Riboside 25mg/kg/day divided into 3 equal doses
Intervention code [1] 0 0
Treatment: Drugs
Comparator / control treatment
Control group

Outcomes
Primary outcome [1] 0 0
Scales for assessment and rating of ataxia
Assessment method [1] 0 0
Scales for assessment and rating of ataxia is a validated cerebellar ataxia tool, measuring gait (scale 0-8), stance (scale 0-6), sitting (scale 0-4), speech (scale 0-6), finger-chase test scale 0-4), finger nose-test (scale 0-4), fast alternating movements (scale 0-4) and heel-shin test (scale 0-4). 0 indicates normal function, escalating numbers in the scale domains indicate increased difficultly with the measured tasks.
Timepoint [1] 0 0
4 monthly assessment over 12 months
Primary outcome [2] 0 0
International Cooperative Ataxia Rating Scale
Assessment method [2] 0 0
International Cooperative Ataxia Rating Scale is a scale recorded out of 100 with 19 items and 4 sub-scales and has been used in A-T. 0 indicates normal function, escalating numbers in the scale domains indicate increased difficulty with the measured tasks.
Timepoint [2] 0 0
4 monthly assessment over 12 months
Secondary outcome [1] 0 0
Serum analysis of neurofilament light chain
Assessment method [1] 0 0
Neurofilament light chain (Nfl) will be quantified using the single-molecule (Simoa) array method and the Simoa NF-light assay (Quanterix, MA, US) on an HD-1platform (GBIO). Levels of neurofilament light chain will be correlated with clinical endpoints.
Timepoint [1] 0 0
12 months
Secondary outcome [2] 0 0
Type 1 Interferon epigenetic signature
Assessment method [2] 0 0
An IFN signature will be investigated by measuring six IFN-stimulated genes (ISGs) by quantitative PCR (QPCR).
Timepoint [2] 0 0
12 months

Eligibility
Key inclusion criteria
Participants who meet all of the following criteria are eligible for enrolment:

* Patients of either sex, of any age, with a confirmed diagnosis of A-T,
* Patients who are able to undertake the study procedures,
* Families who are able to comply with the protocol for its duration and who provide informed patient assent and consent signed and dated by parent/legal guardian or adult participant according to local regulations.
Minimum age
No limit
Maximum age
No limit
Sex
Both males and females
Can healthy volunteers participate?
No
Key exclusion criteria
Participants who meet any of these criteria are not eligible for enrolment:

* Patients whose parents/legal guardians are not able to provide consent
* Patients who have been in another randomised clinical intervention trial where the use of investigational medicinal product within 3 months or 5 half-lives, whichever is longer, before study enrolment
* Taking off label mediations or nutritional supplements that the PI consider would impact participant's safe participation.
* Patients who are pregnant and/or lactating, planning a pregnancy during the study. Contraception must be used for sexually active male and female participants
* Liver enzymes (alanine aminotransferase [ALT]/aspartate aminotransferase [AST]) or total bilirubin > 2 x the upper limit of normal at the time of screening.
* Renal insufficiency as defined by estimated glomerular filtration rate (eGFR) < 30 mL/min/1.73m2 at the screening visit.
* Any comorbid medical condition that in the assessment of the PI that would impact participant's safe participation (e.g. active cancer requiring treatment)
* Evidence of dysphagia that places subject at risk of aspiration if orally fed.

Study design
Purpose of the study
Other
Allocation to intervention
Not applicable
Procedure for enrolling a subject and allocating the treatment (allocation concealment procedures)
Methods used to generate the sequence in which subjects will be randomised (sequence generation)
Masking / blinding
Open (masking not used)
Who is / are masked / blinded?



Intervention assignment
Single group
Other design features
Phase
Not applicable
Type of endpoint/s
Statistical methods / analysis

Recruitment
Recruitment status
Not yet recruiting
Data analysis
Reason for early stopping/withdrawal
Other reasons
Date of first participant enrolment
Anticipated
1/05/2024
Actual
Date of last participant enrolment
Anticipated
Actual
Date of last data collection
Anticipated
30/10/2025
Actual
Sample size
Target
10
Accrual to date
Final
Recruitment in Australia
Recruitment state(s)
QLD
Recruitment hospital [1] 0 0
Queensland Children's Hospital - Brisbane
Recruitment postcode(s) [1] 0 0
4101 - Brisbane

Funding & Sponsors
Primary sponsor type
Other
Name
The University of Queensland
Country

Ethics approval
Ethics application status

Summary
Brief summary
Trial website
Trial related presentations / publications
Public notes

Contacts
Principal investigator
Name 0 0
David Coman, MBBS FRACP
Address 0 0
Queensland Children's Hospital
Country 0 0
Phone 0 0
Email 0 0
Contact person for public queries
Name 0 0
David Coman, MBBS FRACP
Address 0 0
Country 0 0
Phone 0 0
+610730681111
Email 0 0
david.coman@health.qld.gov.au
Contact person for scientific queries

Data sharing statement


What supporting documents are/will be available?

No Supporting Document Provided



Results publications and other study-related documents

No documents have been uploaded by study researchers.


Results not provided in https://clinicaltrials.gov/study/NCT06324877