TCA Cycle in the Dentate in Friedreich's Ataxia
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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.
Full 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).
Enrollment
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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
Trial design
20 participants in 2 patient groups
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Data sourced from clinicaltrials.gov
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