Try the modernized beta website. Learn more about the modernization effort.
Working… Menu

TCA Cycle in the Dentate in Friedreich's Ataxia

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT03122925
Recruitment Status : Enrolling by invitation
First Posted : April 21, 2017
Last Update Posted : March 21, 2022
Information provided by (Responsible Party):
University of Minnesota

Brief Summary:

OBJECTIVE: To measure the tricarboxylic acid (TCA) cycle rate in the dentate nucleus in a group of control subjects and subjects with Friedreich's Ataxia (FRDA).

HYPOTHESIS: The TCA cycle rate will be lower in FRDA subjects than in controls APPROACH: The investigators will infuse carbon-13 (13C) labeled glucose and measure the rate of 13C label incorporation from glucose to glutamate in the brain using in vivo magnetic resonance spectroscopy.

Condition or disease Intervention/treatment
Friedreich Ataxia Device: MR

Detailed Description:

The investigators will measure the TCA cycle rate in the dentate nucleus in a group of FRDA patients and in a group of age-matched healthy controls using 13C MRS in vivo together with systemic i.v. infusion of 13C-labeled glucose.

The investigators aim to obtain adequate data in 16 subjects grouped as follows:

  • n=4 pilot subjects (healthy subjects) for testing and optimization of the experimental setup.
  • n=6 healthy controls
  • n=6 FRDA patients

In other to reach this goal, the investigators plan to recruit up to 20 subjects, in case some subjects withdraw before completion of the MR scan, or in case the measured data are not adequate (e.g. technical problem with the scanner).

Layout table for study information
Study Type : Observational
Estimated Enrollment : 20 participants
Observational Model: Case-Control
Time Perspective: Prospective
Official Title: Measurement of the TCA Cycle Rate in the Dentate Nucleus in Friedreich's Ataxia
Actual Study Start Date : August 15, 2017
Estimated Primary Completion Date : December 31, 2022
Estimated Study Completion Date : June 30, 2023

Group/Cohort Intervention/treatment
Healthy subjects
Device: MR

Friedreich's Ataxia
Diagnosed for Friedreich's Ataxia
Device: MR

Primary Outcome Measures :
  1. TCA cycle rate in the dentate nucleus [ Time Frame: Baseline ]
    value between 0 to 2 micromol/g/min

Biospecimen Retention:   Samples Without DNA

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

Layout table for eligibility information
Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Probability Sample
Study Population
Healthy controls Friedreich's Ataxia diagnosis

Inclusion Criteria:

  • 18 years of age or older
  • able to consent for themselves
  • considered healthy (controls) OR be diagnosed with FRDA.

Exclusion Criteria:

  • All subjects:
  • Participants who cannot have an MRI, as determined by the CMRR safety screening form (e.g. metal implant)
  • Pregnancy
  • Clautrophobia
  • Diabetes
  • Clinically significant cardiac disease

Control subjects:

- Neurological disease

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT03122925

Layout table for location information
United States, Minnesota
Minneapolis, Minnesota, United States, 55455
Sponsors and Collaborators
University of Minnesota
Layout table for investigator information
Principal Investigator: Pierre-Gilles Henry, PhD University of Minnesota
Layout table for additonal information
Responsible Party: University of Minnesota Identifier: NCT03122925    
Other Study ID Numbers: RAD-2017-25500
First Posted: April 21, 2017    Key Record Dates
Last Update Posted: March 21, 2022
Last Verified: March 2022
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

Layout table for additional information
Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: Yes
Product Manufactured in and Exported from the U.S.: No
Additional relevant MeSH terms:
Layout table for MeSH terms
Cerebellar Ataxia
Friedreich Ataxia
Neurologic Manifestations
Nervous System Diseases
Cerebellar Diseases
Brain Diseases
Central Nervous System Diseases
Spinocerebellar Degenerations
Spinal Cord Diseases
Heredodegenerative Disorders, Nervous System
Neurodegenerative Diseases
Genetic Diseases, Inborn
Mitochondrial Diseases
Metabolic Diseases