Early and Longitudinal Assessment of Neurodegeneration in the Brain and Spinal Cord in Friedreich's Ataxia

University of Minnesota (UMN)

Status: Completed

Conditions: Friedreich Ataxia

Study type: Observational

Funder types: Other

Identifiers

NCT01776164

1210M22281

Details and patient eligibility

About

Friedreich's ataxia is characterized by progressive alterations in the function of the cerebellum accompanied by an atrophy of the spinal cord. Although the genetic defect responsible for the disease has been identified more than 15 years ago, objective markers of the pathologic process (i.e., biomarkers) that would allow measuring the effects of potential therapies are still lacking. Moreover, it is still unclear how the malfunction of the cerebellum affects the rest of the brain, and understanding the connectivity and neurochemistry of the central nervous system might yield new insights in the understanding of the disease, in addition to providing potential markers.

To address these needs, the investigators aim at utilizing the capabilities of Magnetic Resonance Imaging (MRI) and Spectroscopy (MRS). Using techniques called Diffusion Imaging, resting-state functional MRI, and Proton Spectroscopy (1H MRS), the investigators propose to determine the differences in the connectivity and neurochemistry of the spinal cord and the brain between patients affected by Friedreich's ataxia and healthy controls. The investigators plan on imaging both patients and control subjects using a 3T magnet, a system that although not yet available in all medical facilities, is becoming standard in most hospitals and clinics. The first aim is to scan patients already scanned last year (12-month follow-up). The second aim is to scan patients at an early stage of the disease.

Enrollment: 85 patients

Sex: All

Ages: 10+ years old

Volunteers: Accepts Healthy Volunteers

Inclusion criteria

• Genetic diagnosis of Friedreich's ataxia for patient volunteers with GAA repeat expansion number
• Absence of neurological conditions for control volunteers
• Control volunteers will be age-, race-, and gender-matched to the patients

Exclusion criteria

• Claustrophobia
• Smoking
• Diabetes
• Pregnancy or lactation
• Weight over 300 lbs
• Presence of a pacemaker or any paramagnetic object in the body
• Severe scoliosis

Trial design

85 participants in 2 patient groups

Patient with FRDA

Description:

Patients affected by Friedreich's ataxia

Healthy controls

Description:

Healthy volunteers age- and gender-matched with no neurological disease identified.