TCA Cycle in the Dentate in Friedreich's Ataxia

Measurement of the TCA Cycle Rate in the Dentate Nucleus in Friedreich's Ataxia

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.

Study Overview

• Status: Completed
• Conditions: Friedreich Ataxia
• Intervention / Treatment: 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).

• Study Type: Observational
• Enrollment (Actual): 20

Contacts and Locations

Study Locations

• United States
  • Minnesota
    • Minneapolis, Minnesota, United States, 55455
      • CMRR

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years and older (Adult, Older Adult)
• Accepts Healthy Volunteers: Yes
• Genders Eligible for Study: All

• Sampling Method: Probability Sample

Study Population

Healthy controls Friedreich's Ataxia diagnosis

Description

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

Study Plan

How is the study designed?

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
Control; Healthy subjects	Device: MR; MR
Friedreich's Ataxia; Diagnosed for Friedreich's Ataxia	Device: MR; MR

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
TCA cycle rate in the dentate nucleus	value between 0 to 2 micromol/g/min	Baseline

Collaborators and Investigators

• Sponsor: University of Minnesota
• Investigators: Principal Investigator: Pierre-Gilles Henry, PhD, University of Minnesota

Study record dates

Study Major Dates

• Study Start (Actual): August 29, 2017
• Primary Completion (Actual): January 11, 2023
• Study Completion (Actual): January 11, 2023

Study Registration Dates

• First Submitted: April 18, 2017
• First Submitted That Met QC Criteria: April 18, 2017
• First Posted (Actual): April 21, 2017

Study Record Updates

• Last Update Posted (Actual): March 27, 2023
• Last Update Submitted That Met QC Criteria: March 24, 2023
• Last Verified: March 1, 2023

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Metabolic Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Neurologic Manifestations; Genetic Diseases, Inborn; Neurodegenerative Diseases; Dyskinesias; Spinal Cord Diseases; Heredodegenerative Disorders, Nervous System; Mitochondrial Diseases; Cerebellar Diseases; Spinocerebellar Degenerations; Ataxia; Cerebellar Ataxia; Friedreich Ataxia
• Other Study ID Numbers: RAD-2017-25500

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• 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