Neurology Measures in FA Children
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|ClinicalTrials.gov Identifier: NCT03418740|
Recruitment Status : Active, not recruiting
First Posted : February 1, 2018
Last Update Posted : November 3, 2022
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).
|Condition or disease|
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.
|Study Type :||Observational [Patient Registry]|
|Estimated Enrollment :||110 participants|
|Target Follow-Up Duration:||3 Years|
|Official Title:||Neurological Measures of Progression in Children With Friedrich Ataxia|
|Actual Study Start Date :||November 20, 2017|
|Estimated Primary Completion Date :||February 2, 2023|
|Estimated Study Completion Date :||February 2, 2023|
Children between the ages of 2 and 18 with genetically confirmed Friedreich's Ataxia
- Clinical markers in disease progression in children with FA [ Time Frame: 3 years ]Identify markers of disease progression in children with FA and assess potential clinical measures of disease progression in the youngest subjects.
- Biochemical assessment of frataxin deficiency in children with FA [ Time Frame: 3 years ]Assess the biochemistry of frataxin deficiency in children with FA. Measure frataxin deficiency and downstream metabolic function. Understand how these biochemical markers change over time. Support genetic modifier studies and biomarker studies. Evaluate the clinical utility of measuring frataxin levels in easily-accessible tissue samples, cheek swabs, suitable for the repetitive testing needed to monitor efficacy of therapies designed to up-regulate levels of frataxin protein.
- Physiological dysfunction in affected tissues in children with FA [ Time Frame: 3 years ]Define the progression of physiological dysfunction in affected tissues in children with FA. Use noninvasive testing to assess the physiological correlates of progression of FA.
Biospecimen Retention: Samples With DNA
Whole blood and plasma to measure frataxin protein and other present biomarkers.
Buccal cells (inner cheek cells) to measure frataxin protein levels.
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 ClinicalTrials.gov identifier (NCT number): NCT03418740
|United States, California|
|University of California, Los Angeles|
|Los Angeles, California, United States, 90095|
|United States, Florida|
|University of Florida|
|Gainesville, Florida, United States, 32611|
|United States, Pennsylvania|
|Children's Hospital of Philadelphia|
|Philadelphia, Pennsylvania, United States, 19104|
|Principal Investigator:||David Lynch, MD, PhD||Children's Hospital of Philadelphia|