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

NCT01776164 | Completed DMC

• 1 other identifier: 1210M22281
• Study Type: observational
• Target: 85
• Locations: 1 country
• Sites: 1

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

Keywords

Friedreich; ataxia; FRDA; FA; recessive; neurodegenerative; cerebellum

Outcome Measures

Primary Outcomes (1)

• 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

  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.

  1 year

Study Arms (2)

Patient with FRDA

Patients affected by Friedreich's ataxia

Healthy controls

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

Eligibility Criteria

• Age: 10 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patients with Friedreich's ataxia at the early stage of the disease (e.g. ambulatory and not wheelchair bound and no to early cardiomyopathy) Age- and gender-matched healthy volunteers

You may qualify if:

• 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

You may not qualify if:

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

Sponsors & Collaborators

• University of Minnesota: lead
• Bob Allison Ataxia Research Center: collaborator
• Friedreich's Ataxia Research Alliance: collaborator

Study Sites (1)

University of Minnesota

Minneapolis, Minnesota, 55455, United States

Location

MeSH Terms

Conditions

Friedreich Ataxia; Ataxia

Condition Hierarchy (Ancestors)

Spinocerebellar Degenerations; Cerebellar Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Spinal Cord Diseases; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Mitochondrial Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases; Dyskinesias; Neurologic Manifestations; Signs and Symptoms; Pathological Conditions, Signs and Symptoms

Study Officials

• Pierre-Gilles Henry, Ph.D.

  University of Minnesota

  PRINCIPAL INVESTIGATOR

• Christophe Lenglet, Ph.D

  University of Minnesota

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: January 14, 2013
• First Posted: January 28, 2013
• Study Start: January 1, 2013
• Primary Completion: February 8, 2022
• Study Completion: February 8, 2022
• Last Updated: March 9, 2023

Record last verified: 2023-03

Locations

US (1)