FA Clinical Outcome Measures

Study Overview
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Brief Summary
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This multicenter natural history study aims to expand the network of clinical research centers in FA, and to provide a framework for facilitating therapeutic interventions. In addition, this study will lead to the development of valid yet sensitive clinical measures crucial to outcome assessment of patients with Friedreich's Ataxia. This study will support genetic modifier studies, biomarker studies, and frataxin protein level assessments by building a sample repository.

Detailed Description
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Friedreich's ataxia (FA) is a rare autosomal recessive degenerative disorder characterized by ataxia, dysarthria, sensory loss, diabetes and cardiomyopathy. The discovery of the abnormal gene in FA and its product (frataxin) has provided insight into possible pathophysiological mechanisms and novel approaches to treatments in this disease. While such methods for assessing disease progression may be useful, evaluation in clinical trials will require specific clinical outcome measures. This is a multicenter natural history study which aims to expand the network of clinical research centers specializing in Friedreich's Ataxia and to advance clinical care, research and therapeutic approaches in FA through the development and validation of clinical outcome measures. Study sites aim to collect quantitative serial clinical data on patients with FA and expand the existing research network. In addition, the study will support various genetic modifier studies, biomarker studies, and frataxin protein level assessments in patients with FA, in carriers, and in controls. This study will recruit up to 2000 patients with Friedreich ataxia worldwide, to be assessed annually for up to 15 years. All individuals with a genetic or clinical diagnosis of FA can participate. Study participation involves yearly assessments of a core set of clinical measures and quality of life assessment measures in addition to optional collection of a cheek swab and/or blood sample.

Official Title
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Clinical Outcome Measures in Friedreich's Ataxia

Conditions
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Friedreich Ataxia, Neuro-Degenerative Disease

Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Males or females age 4 to 80 years. Genetically confirmed diagnosis of FA (for carrier/control cheek swab and blood samples this is not required). Clinically confirmed diagnosis of FA, pending confirmatory genetic testing through a commercial or research laboratory (for carrier/control cheek swab and blood samples this is not required). Parental/guardian permission (informed consent) and if appropriate, child assent. Exclusion Criteria: 1) Signs or symptoms of severe cardiomyopathy (such as congestive heart failure)

Ages Eligible for Study
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Minimum Age: 4 Years
Maximum Age: 80 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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Accepts Healthy Volunteers

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Study Participant<br>Study participants can be individuals with either a clinical diagnosis or genetic confirmation of Friedreich ataxia. In addition, this study enrolls Friedreich ataxia carriers and unaffected controls. | |

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Friedreich Ataxia Rating Scale | rating scale based on clinical neurologic examination | once every 1 year | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| 9-hole peg test | timed test of fine motor skills performed as a set of four trials (two trials per hand), for patients with FA who are able to complete this testing | once every 1 year | 
| timed 25 foot walk | timed 25 foot walk is performed twice for patients with FA who are able to complete this testing. Assistive devices such as canes, service dogs, walkers, or crutches are permitted. | once every 1 year | 
| Vision assessment | High and low contrast visual acuity tested on patients with FA who are able to perform this test. Glasses or contact lenses are permitted. | once every 1 year | 
| Quality of Life Questionnaires | a set of quality of life questionnaires is administered for study participants with Friedreich ataxia. Questionnaires include items such as activities of daily living, overall opinion on health and function, and fatigue-related questions. | once every 1 year | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Friedreich Ataxia, Neuro-degenerative disease