FA Clinical Outcome Measures



Status:Recruiting
Conditions:Neurology, Neurology
Therapuetic Areas:Neurology
Healthy:No
Age Range:4 - 80
Updated:1/31/2019
Start Date:January 1, 2001
End Date:January 1, 2030
Contact:Jennifer Farmer, MS CGC
Email:jen.farmer@curefa.org
Phone:484-879-6160

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Clinical Outcome Measures in Friedreich's Ataxia

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.

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.

Inclusion Criteria:

1. Males or females age 4 to 80 years.

2. Genetically confirmed diagnosis of FA (for carrier/control cheek swab and blood
samples this is not required).

3. 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).

4. Parental/guardian permission (informed consent) and if appropriate, child assent.

Exclusion Criteria:

1) Signs or symptoms of severe cardiomyopathy (such as congestive heart failure)
We found this trial at
8
sites
Parkville, Victoria
Principal Investigator: Martin Delatycki, MD
Phone: 61 8341 6374
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Parkville,
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Atlanta, Georgia 30329
Principal Investigator: George Wilmot, MD
Phone: 404-712-7013
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Atlanta, GA
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Columbus, Ohio 43221
Principal Investigator: Chad Hoyle, MD
Phone: 614-685-3030
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Columbus, OH
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Gainesville, Florida 32610
Principal Investigator: SH Subramony, MD
Phone: 352-294-8754
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Gainesville, FL
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Iowa City, Iowa 52242
Principal Investigator: Katherine Mathews, MD
Phone: 319-335-6073
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Iowa City, IA
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Los Angeles, California 90095
Principal Investigator: Susan Perlman, MD
Phone: 310-206-8153
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Los Angeles, CA
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3401 Civic Center Boulevard
Philadelphia, Pennsylvania 19104
Principal Investigator: David Lynch, MD PhD
Phone: 267-426-7538
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Philadelphia, PA
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Tampa, Florida 33612
Principal Investigator: Theresa Zesiewicz, MD
Phone: 561-400-3576
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Tampa, FL
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