Neurology Measures in FA Children

Study Overview
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Brief Summary
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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).

Detailed Description
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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.

Official Title
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Neurological Measures of Progression in Children With Friedrich Ataxia

Conditions
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Friedreich Ataxia

Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Males or females age 2 to 18 years. Genetically confirmed diagnosis of Friedreich's Ataxia (FA) or clinically confirmed diagnosis of FA, pending confirmatory genetic testing through a commercial or research laboratory Parental/guardian permission (informed consent) and if appropriate, child assent. Exclusion Criteria: 1) Inability to complete study evaluations

Ages Eligible for Study
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Minimum Age: 2 Years
Maximum Age: 18 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| FA Children<br>Children between the ages of 2 and 18 with genetically confirmed Friedreich's Ataxia | |

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Clinical markers in disease progression in children with FA | Identify markers of disease progression in children with FA and assess potential clinical measures of disease progression in the youngest subjects. | 3 years | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Biochemical assessment of frataxin deficiency in children with FA | 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. | 3 years | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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FA, Friedreich, Ataxia, FRDA, Friedrich Ataxia (FRDA)