Neurology Measures in FA Children
| Status: | Recruiting |
|---|---|
| Conditions: | Neurology |
| Therapuetic Areas: | Neurology |
| Healthy: | No |
| Age Range: | 2 - 18 |
| Updated: | 4/6/2019 |
| Start Date: | November 20, 2017 |
| End Date: | December 31, 2021 |
| Contact: | Alexandra Clay |
| Email: | claya@email.chop.edu |
| Phone: | 267-426-7584 |
Neurological Measures of Progression in Children With Friedrich Ataxia
The purpose of this study is to identify ways to follow progression of Friedreich's Ataxia
(FA) and be able to measure changes over time in children with FA. Participants will have
biannual visits to observe how the disease progresses over time and determine the rate of
progression.
Funding Source- Food and Drug Administration Office of Orphan Products Development (FDA
OOPD).
(FA) and be able to measure changes over time in children with FA. Participants will have
biannual visits to observe how the disease progresses over time and determine the rate of
progression.
Funding Source- Food and Drug Administration Office of Orphan Products Development (FDA
OOPD).
Investigators seek to identify biological and clinical tests to be used in future clinical
trials. The purpose of this research study is to learn more about Friedreich's Ataxia (FA)
progression in children. There will be biannual visits which will include a core set of tests
and procedures. These include: a collection of medical history, detailed neurological exam,
ataxia scales, and health questionnaires. At each visit, blood and cheek swab samples will be
obtained to monitor frataxin levels.
A select number of Children's Hospital of Philadelphia (CHOP) participants will have the
opportunity to participate in further procedures to better understand how FA affects
different tissues. These include a Magnetic Resonance Imaging (MRI) scan and a Motor Evoked
Potentials (MEP) procedure.
The MRI scan analyzes how muscle activity is affected in FA. The magnet will be used to
capture images of the calf muscle before and after exercising on an ergonomic foot pedal.
The MEP procedure measures how strong the connection is between the brain's motor cortex and
a selected body part, specifically the participant's dominant hand.
trials. The purpose of this research study is to learn more about Friedreich's Ataxia (FA)
progression in children. There will be biannual visits which will include a core set of tests
and procedures. These include: a collection of medical history, detailed neurological exam,
ataxia scales, and health questionnaires. At each visit, blood and cheek swab samples will be
obtained to monitor frataxin levels.
A select number of Children's Hospital of Philadelphia (CHOP) participants will have the
opportunity to participate in further procedures to better understand how FA affects
different tissues. These include a Magnetic Resonance Imaging (MRI) scan and a Motor Evoked
Potentials (MEP) procedure.
The MRI scan analyzes how muscle activity is affected in FA. The magnet will be used to
capture images of the calf muscle before and after exercising on an ergonomic foot pedal.
The MEP procedure measures how strong the connection is between the brain's motor cortex and
a selected body part, specifically the participant's dominant hand.
Inclusion Criteria:
1. Males or females age 2 to 18 years.
2. Genetically confirmed diagnosis of Friedreich's Ataxia (FA) or clinically confirmed
diagnosis of FA, pending confirmatory genetic testing through a commercial or research
laboratory
3. Parental/guardian permission (informed consent) and if appropriate, child assent.
Exclusion Criteria:
1) Inability to complete study evaluations
We found this trial at
3
sites
Los Angeles, California 90095
310-825-4321
Principal Investigator: Susan Perlman, MD
University of California at Los Angeles The University of California, Los Angeles (UCLA) is an...
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Gainesville, Florida 32610
(352) 392-3261
Principal Investigator: S H Subramony, MD
Phone: 352-294-8754
University of Florida The University of Florida (UF) is a major, public, comprehensive, land-grant, research...
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South 34th Street
Philadelphia, Pennsylvania 19104
Philadelphia, Pennsylvania 19104
215-590-1000
Principal Investigator: David Lynch, MD, PhD
Phone: 267-426-7584
Children's Hospital of Philadelphia Since its start in 1855 as the nation's first hospital devoted...
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