Last updated on February 2018

FA Clinical Outcome Measures


Brief description of study

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 Study Description

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 1500 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.

Clinical Study Identifier: NCT03090789

Contact Investigators or Research Sites near you

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Susan Perlman, MD

UCLA Ataxia Center
Los Angeles, CA United States
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SH Subramony, MD

University of Florida - Neurology
Gainesville, FL United States
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Theresa Zesiewicz, MD

USF Ataxia Research Center
Tampa, FL United States
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George Wilmot, MD

Emory University Hospital - Neurology
Atlanta, GA United States
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Katherine Mathews, MD

University of Iowa, Stead Family Children's Hospital
Iowa City, IA United States
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Chad Hoyle, MD

Ohio State University - Neurology
Columbus, OH United States
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David Lynch, MD PhD

Children's Hospital of Philadelphia - Neurology
Philadelphia, PA United States
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Martin Delatycki, MD

Murdoch Childrens Research Institute
Parkville, Australia
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Grace Yoon, MD

The Hospital for Sick Children
Toronto, ON Canada
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