TCA Cycle in the Dentate in Friedreich's Ataxia



Status:Enrolling by invitation
Conditions:Neurology
Therapuetic Areas:Neurology
Healthy:No
Age Range:18 - Any
Updated:10/13/2018
Start Date:August 15, 2017
End Date:July 1, 2019

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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.

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).

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
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