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Ataxia-telangiectasia: Treating Mitochondrial Dysfunction With a Novel Form of Anaplerosis

NCT04513002 · Status: COMPLETED · Phase: PHASE2 · Type: INTERVENTIONAL · Enrollment: 30

Last updated 2023-07-20

No results posted yet for this study

Summary

Study design: Parallel group, placebo-controlled, dose-escalation each 2 months for 12 months. Dose based on percent (%) of calculated caloric intake. Thirty participants will be randomised in blocks on a 1:1:1 ratio into one of three groups stratified by age (\< 5 years, 5-10 years, \> 10 years of age). Group 1: 10%, 20%, 35%, 35%, 35% (no placebo). Group 2: placebo, 10%, 20%, 35%, 35% Group 3: placebo, placebo, 10%, 20%, 35%.

Primary endpoint: The percent cell death induced by glucose deprivation in cell culture. Secondary endpoints include: Scales for assessment and rating of ataxia, International Cooperative Ataxia Rating Scale, Ataxia Telangiectasia Neurological Examination Scale Toolkit, speech and language assessment, EyeSeeCam assessment, MRI lung imaging, Lung function, Upper respiratory microbiome, Faecal microbiome, Survival and inflammatory phenotype of airway epithelial cells, macrophages and in serum, Metabolomic biomarker discovery in serum and measurement of neuroflament light chain.

Conditions

  • Ataxia Telangiectasia

Interventions

DIETARY_SUPPLEMENT

Triheptanoin

Triheptanoin is a highly purified, synthetic medium odd-chain triglyceride that is catabolized to heptanoate.

Sponsors & Collaborators

  • National Health and Medical Research Council, Australia

    collaborator OTHER

  • The University of Queensland

    lead OTHER

Principal Investigators

  • David Coman, MBBS FRACP · Queensland Children's Hospital

Study Design

Allocation
RANDOMIZED
Purpose
HEALTH_SERVICES_RESEARCH
Masking
QUADRUPLE
Model
PARALLEL

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2022-03-15
Primary Completion
2023-03-17
Completion
2023-07-10

Countries

  • Australia

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT04513002 on ClinicalTrials.gov