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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT01776164
Recruitment Status : Enrolling by invitation
First Posted : January 28, 2013
Last Update Posted : November 1, 2019
Bob Allison Ataxia Research Center
Friedreich's Ataxia Research Alliance
Information provided by (Responsible Party):
University of Minnesota

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
Friedreich Ataxia

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Study Type : Observational
Estimated Enrollment : 32 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 : January 2013
Estimated Primary Completion Date : December 2019
Estimated Study Completion Date : July 2020

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

Primary Outcome Measures :
  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 [ Time Frame: 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.

Information from the National Library of Medicine

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Ages Eligible for Study:   10 Years and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
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

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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT01776164

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United States, Minnesota
University of Minnesota
Minneapolis, Minnesota, United States, 55455
Sponsors and Collaborators
University of Minnesota
Bob Allison Ataxia Research Center
Friedreich's Ataxia Research Alliance
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Principal Investigator: Pierre-Gilles Henry, Ph.D. University of Minnesota
Principal Investigator: Christophe Lenglet, Ph.D University of Minnesota

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Responsible Party: University of Minnesota Identifier: NCT01776164     History of Changes
Other Study ID Numbers: 1210M22281
First Posted: January 28, 2013    Key Record Dates
Last Update Posted: November 1, 2019
Last Verified: October 2019
Keywords provided by University of Minnesota:
Additional relevant MeSH terms:
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Cerebellar Ataxia
Friedreich Ataxia
Nerve Degeneration
Neurologic Manifestations
Nervous System Diseases
Signs and Symptoms
Cerebellar Diseases
Brain Diseases
Central Nervous System Diseases
Spinocerebellar Degenerations
Spinal Cord Diseases
Heredodegenerative Disorders, Nervous System
Neurodegenerative Diseases
Genetic Diseases, Inborn
Mitochondrial Diseases
Metabolic Diseases
Pathologic Processes