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. This natural history study is no longer recruiting under this protocol NCT03090789 but remains actively recruiting under the harmonized study (UNIFAI) NCT06016946.
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.
Study Type
OBSERVATIONAL
Enrollment
2,000
UCLA Ataxia Center
Los Angeles, California, United States
University of Colorado
Denver, Colorado, United States
University of Florida - Neurology
Gainesville, Florida, United States
USF Ataxia Research Center
Tampa, Florida, United States
Emory University Hospital - Neurology
Atlanta, Georgia, United States
University of Iowa, Stead Family Children's Hospital
Iowa City, Iowa, United States
Ohio State University - Neurology
Columbus, Ohio, United States
Children's Hospital of Philadelphia - Neurology
Philadelphia, Pennsylvania, United States
St. Jude Children's Research Hospital
Memphis, Tennessee, United States
Murdoch Childrens Research Institute
Parkville, Victoria, Australia
...and 4 more locations
Friedreich Ataxia Rating Scale
rating scale based on clinical neurologic examination
Time frame: once every 1 year
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
Time frame: 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.
Time frame: 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.
Time frame: 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.
Time frame: once every 1 year
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