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

NCT ID: NCT01776164

Last Updated: 2023-03-09

Basic Information

• Recruitment Status: COMPLETED
• Total Enrollment: 85 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2013-01-31
• Study Completion Date: 2022-02-08

Brief Summary

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.

Conditions

Friedreich Ataxia

Study Design

• Observational Model Type: COHORT
• Study Time Perspective: CROSS_SECTIONAL

Study Groups

Patient with FRDA

Patients affected by Friedreich's ataxia

No interventions assigned to this group

Healthy controls

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

No interventions assigned to this group

Eligibility Criteria

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

• Minimum Eligible Age: 10 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: Yes

Sponsors

Bob Allison Ataxia Research Center

UNKNOWN

Sponsor Role: collaborator

Friedreich's Ataxia Research Alliance

OTHER

Sponsor Role: collaborator

University of Minnesota

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Principal Investigators

Pierre-Gilles Henry, Ph.D.

Role: PRINCIPAL_INVESTIGATOR

University of Minnesota

Christophe Lenglet, Ph.D

Role: PRINCIPAL_INVESTIGATOR

University of Minnesota

Locations

University of Minnesota

Minneapolis, Minnesota, United States

Countries

United States

Other Identifiers

1210M22281

Identifier Type: -

Identifier Source: org_study_id