Clinical trial NCT01776164: Early and Longitudinal Assessment of Neurodegeneration in the Brain and Spinal Cord in Friedreich's Ataxia
Official title: Early and Longitudinal Assessment of Neurodegeneration in the Brain and Spinal Cord in Friedreich's Ataxia
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Friedreich Ataxia
Keywords: Friedreich
ataxia
FRDA
FA
recessive
neurodegenerative
cerebellum
Lead sponsor: University of Minnesota
Sponsor class: OTHER
Collaborators: name: Bob Allison Ataxia Research Center
name: Friedreich's Ataxia Research Alliance
First posted: 2013-01-28
Enrollment: 85
Sex: ALL
Minimum age (years): 10
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Observational model: COHORT
Time perspective: CROSS_SECTIONAL
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

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.


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

Primary outcomes:
measure: 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
timeFrame: 1 year
Secondary outcomes:
Other outcomes:
Locations:
city: Minneapolis
country: United States
facility: University of Minnesota
state: Minnesota
Study officials:
affiliation: University of Minnesota
name: Pierre-Gilles Henry, Ph.D.
role: PRINCIPAL_INVESTIGATOR
affiliation: University of Minnesota
name: Christophe Lenglet, Ph.D
role: PRINCIPAL_INVESTIGATOR
References: