Magnetic Resonance Imaging and Spectroscopy of the Central Nervous System in Friedreich's Ataxia
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 controls at a 3T magnet, a system that although not yet available in all medical facilities, is becoming standard in most hospitals and clinics. In addition, the investigators plan on scanning the brain of the volunteers at 7T, an ultra-high field system that benefits from higher resolution, yielding images with greater anatomical and functional details. Moreover, the investigators expect that the findings from 7T will benefit the methodology employed at 3T.
|Study Design:||Observational Model: Cohort
Time Perspective: Cross-Sectional
|Official Title:||Magnetic Resonance Imaging and Spectroscopy of the Central Nervous System in Friedreich's Ataxia (FRDA)|
- 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 ] [ Designated as safety issue: No ]
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.
|Study Start Date:||January 2013|
|Estimated Study Completion Date:||December 2013|
|Estimated Primary Completion Date:||December 2013 (Final data collection date for primary outcome measure)|
Patient with FRDA
Patients affected by Friedreich's ataxia
Healthy volunteers age- and gender-matched with no neurological disease identified.
|Contact: Diane Hutter, RNfirstname.lastname@example.org|
|United States, Minnesota|
|University of Minnesota||Recruiting|
|Minneapolis, Minnesota, United States, 55455|
|Contact: Diane Hutter, Ph.D. 612-625-2350 email@example.com|
|Principal Investigator: Isabelle Iltis, Ph.D.|
|Principal Investigator: Christophe Lenglet, Ph.D.|
|Principal Investigator:||Isabelle Iltis, Ph.D.||University of Minnesota - Clinical and Translational Science Institute|
|Principal Investigator:||Christophe Lenglet, Ph.D||University of Minnesota - Clinical and Translational Science Institute|