FA Clinical Outcome Measures (FA-COMS)

Study Description

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Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Brief Summary:

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.

Condition or disease
Friedreich Ataxia; Neuro-Degenerative Disease

Detailed 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.

Study Design

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Study Type :	Observational [Patient Registry]
Estimated Enrollment :	1500 participants
Observational Model:	Case-Control
Time Perspective:	Prospective
Target Follow-Up Duration:	15 Years
Official Title:	Clinical Outcome Measures in Friedreich's Ataxia
Actual Study Start Date :	January 1, 2001
Estimated Primary Completion Date :	January 1, 2030
Estimated Study Completion Date :	January 1, 2030

Groups and Cohorts

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Group/Cohort
Study Participant; 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.

Outcome Measures

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Primary Outcome Measures :

1. Friedreich Ataxia Rating Scale [ Time Frame: once every 1 year ]
   rating scale based on clinical neurologic examination

Secondary Outcome Measures :

1. 9-hole peg test [ Time Frame: once every 1 year ]
   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
2. timed 25 foot walk [ Time Frame: once every 1 year ]
   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.
3. Vision assessment [ Time Frame: once every 1 year ]
   High and low contrast visual acuity tested on patients with FA who are able to perform this test. Glasses or contact lenses are permitted.
4. Quality of Life Questionnaires [ Time Frame: once every 1 year ]
   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.

Other Outcome Measures:

1. Optional sample collection [ Time Frame: once every 1 year ]
   study participants will be asked to provide a cheek swab and/or blood sample for a variety of different measures including frataxin protein level assessments or other biomarker tests

Biospecimen Retention:   Samples With DNA

Optional sample collection offered to study participants; whole blood and/or cheek swab may be collected as a one-time procedure.

Eligibility Criteria

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Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Ages Eligible for Study:	4 Years to 80 Years (Child, Adult, Senior)
Sexes Eligible for Study:	All
Accepts Healthy Volunteers:	Yes
Sampling Method:	Non-Probability Sample

Study Population

Participants with either a clinical diagnosis or genetic test confirmation of Friedreich ataxia. Study also accepts carriers of Friedreich ataxia along with healthy volunteers.

Criteria

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)

Contacts and Locations

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Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Contacts

Contact: Jennifer Farmer, MS CGC	484-879-6160	jen.farmer@curefa.org

Locations

United States, California
UCLA Ataxia Center	Recruiting
Los Angeles, California, United States, 90095
Contact: Westley Ulit 310-206-8153 WUlit@mednet.ucla.edu
Principal Investigator: Susan Perlman, MD
United States, Florida
University of Florida - Neurology	Recruiting
Gainesville, Florida, United States, 32610
Contact: Aika Konn, BA 352-273-6003 aika.konn@neurology.ufl.edu
Principal Investigator: SH Subramony, MD
USF Ataxia Research Center	Recruiting
Tampa, Florida, United States, 33612
Contact: Avery Thomson, MS 561-400-3576 averythomson@health.usf.edu
Principal Investigator: Theresa Zesiewicz, MD
United States, Georgia
Emory University Hospital - Neurology	Recruiting
Atlanta, Georgia, United States, 30329
Contact: Rebecca S McMurray, RN 404-712-7013 rmcmurr@emory.edu
Principal Investigator: George Wilmot, MD
United States, Iowa
University of Iowa, Stead Family Children's Hospital	Recruiting
Iowa City, Iowa, United States, 52242
Contact: Diane Recker, RN 319-335-6073 diane-recker@uiowa.edu
Principal Investigator: Katherine Mathews, MD
United States, Ohio
Ohio State University - Neurology	Recruiting
Columbus, Ohio, United States, 43221
Contact: Louisa Mezache 614-685-3030 louisa.mezache@osumc.edu
Principal Investigator: Chad Hoyle, MD
United States, Pennsylvania
Children's Hospital of Philadelphia - Neurology	Recruiting
Philadelphia, Pennsylvania, United States, 19104
Contact: Lauren Hauser, MS LCGC 267-426-7538 FAPROGRAM@email.chop.edu
Principal Investigator: David Lynch, MD PhD
Australia, Victoria
Murdoch Childrens Research Institute	Recruiting
Parkville, Victoria, Australia, 3052
Contact: Geneieve Tai 61 8341 6374 geneieve.tai@mcri.edu.au
Contact: Louise Corben, PhD 61 3 8341 6228 louise.corben@vcgs.org.au
Principal Investigator: Martin Delatycki, MD
Canada, Ontario
The Hospital for Sick Children	Recruiting
Toronto, Ontario, Canada
Contact: Winnie Lam 416-813-6389 winnie.lam@sickkids.ca
Principal Investigator: Grace Yoon, MD

Sponsors and Collaborators

Children's Hospital of Philadelphia

Friedreich's Ataxia Research Alliance

University of Rochester

Investigators

Principal Investigator:	David Lynch, MD PhD	Children's Hospital of Philadelphia

More Information

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Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Responsible Party:	Children's Hospital of Philadelphia
ClinicalTrials.gov Identifier:	NCT03090789 History of Changes
Other Study ID Numbers:	01-002609
First Posted:	March 27, 2017
Last Update Posted:	February 9, 2018
Last Verified:	February 2018
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD:	No

Studies a U.S. FDA-regulated Drug Product:		No
Studies a U.S. FDA-regulated Device Product:		No

Keywords provided by Children's Hospital of Philadelphia:

Friedreich Ataxia; Neuro-degenerative disease

Additional relevant MeSH terms:

Ataxia; Cerebellar Ataxia; Friedreich Ataxia; Neurodegenerative Diseases; Dyskinesias; Neurologic Manifestations; Nervous System Diseases; Signs and Symptoms; Cerebellar Diseases	Brain Diseases; Central Nervous System Diseases; Spinocerebellar Degenerations; Spinal Cord Diseases; Heredodegenerative Disorders, Nervous System; Genetic Diseases, Inborn; Mitochondrial Diseases; Metabolic Diseases