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

Sponsor

University of Minnesota (Other)

Overall Status

Active, not recruiting

CT.gov ID

NCT01776164

Collaborator

Bob Allison Ataxia Research Center (Other), Friedreich's Ataxia Research Alliance (Other)

Enrollment

Location

120

Duration (Months)

0.7

Patients Per Site Per Month

Study Details

Study Description

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.

Condition or Disease	Intervention/Treatment	Phase
Friedreich Ataxia

Study Design

Study Type:

Observational

Actual Enrollment :

85 participants

Observational Model:

Cohort

Time Perspective:

Cross-Sectional

Official Title:

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

Study Start Date :

Jan 1, 2013

Actual Primary Completion Date :

Feb 8, 2022

Anticipated Study Completion Date :

Dec 31, 2022

Arms and Interventions

Arm	Intervention/Treatment
Patient with FRDA Patients affected by Friedreich's ataxia
Healthy controls Healthy volunteers age- and gender-matched with no neurological disease identified.

Outcome Measures

Primary Outcome Measures

Difference in connectivity (apparent coefficient of diffusion, fractional anisotropy, radial and axial diffusivity), anatomy (cortical thickness, volumetry analysis) and biochemistry (metabolite concentrations) between patients and controls [1 year]
The investigators will look at the differences between patients and controls. This is observational, not interventional. The fractional anisotropy (FA) is a scalar value. The apparent coefficient of diffusion, radial and axial diffusivity are measured in mm2/s. The metabolite concentrations in the brain are in the order of µg/ g wet tissue weight. Cortical thickness is measured in mm.

Eligibility Criteria

Criteria

Ages Eligible for Study:

10 Years and Older

Sexes Eligible for Study:

All

Accepts Healthy Volunteers:

Yes

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