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FA Clinical Outcome Measures (FA-COMS)

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ClinicalTrials.gov Identifier: NCT03090789
Recruitment Status : Recruiting
First Posted : March 27, 2017
Last Update Posted : November 9, 2022
Friedreich's Ataxia Research Alliance
University of Rochester
Information provided by (Responsible Party):
Children's Hospital of Philadelphia

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 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.

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Study Type : Observational [Patient Registry]
Estimated Enrollment : 2000 participants
Observational Model: Case-Control
Time Perspective: Prospective
Target Follow-Up Duration: 25 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

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.

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.

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

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Ages Eligible for Study:   4 Years to 80 Years   (Child, Adult, Older Adult)
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.

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)

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03090789

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

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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, Colorado
University of Colorado Recruiting
Denver, Colorado, United States, 80045
Contact: Lexer Duque Sanchez    303-724-1121    lexer.duquesanchez@cuanschutz.edu   
Principal Investigator: Trevor Hawkins, MD         
United States, Florida
University of Florida - Neurology Recruiting
Gainesville, Florida, United States, 32610
Contact: MacKenzi Coker    352-294-8706    mcoker@peds.ufl.edu   
Principal Investigator: SH Subramony, MD         
USF Ataxia Research Center Recruiting
Tampa, Florida, United States, 33612
Contact: Lucretia Campbell    813-947-5633    lcampbel@usf.edu   
Principal Investigator: Theresa Zesiewicz, MD         
United States, Georgia
Emory University Hospital - Neurology Recruiting
Atlanta, Georgia, United States, 30329
Contact: Jonna Seppa    404-727-1509    jonna.k.seppa@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: Corey McDaniel    319-335-7498    corey-mcdaniel@uiowa.edu   
Principal Investigator: Katherine Mathews, MD         
United States, Ohio
Ohio State University - Neurology Recruiting
Columbus, Ohio, United States, 43221
Contact: Marco Tellez    614-688-7837    marco.tellez@osumc.edu   
Principal Investigator: Chad Hoyle, MD         
United States, Pennsylvania
Children's Hospital of Philadelphia - Neurology Recruiting
Philadelphia, Pennsylvania, United States, 19104
Contact: FA Program    267-426-7538    FAPROGRAM@chop.edu   
Principal Investigator: David Lynch, MD PhD         
United States, Tennessee
St. Jude Children's Research Hospital Recruiting
Memphis, Tennessee, United States, 38105
Contact: Colin Quillivan    901-595-6266    Colin.Quillivan@STJUDE.ORG   
Principal Investigator: RICHARD FINKEL         
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: Bianca Perro    416-813-7654 ext 228623    bianca.perro@sickkids.ca   
Principal Investigator: Grace Yoon, MD         
Canada, Quebec
CHUM - Hopital Notre-Dame Recruiting
Montréal, Quebec, Canada, h2x0a9
Contact: Martine Comeau    514-890-8000 ext 26512    martine.comeau.chum@ssss.gouv.qc.ca   
Principal Investigator: Antoine Duquette, MD         
All India Institute of Medical Sciences (Aiims) Recruiting
New Delhi, India, 110020
Contact: AHMAD ISTAQ    +91-11-26546688    ishtox@gmail.com   
Contact: SHWETA SAHANI    +91-11-26588500    sahni.shweta29@gmail.com   
Principal Investigator: ACHAL SRIVASTAVA         
Sub-Investigator: MOHAMMED FARUQ         
New Zealand
Auckland City Hospital Recruiting
Auckland, New Zealand
Contact: Ashleigh Baker    +61 9 923 8652    ashleigh.baker@auckland.ac.nz   
Principal Investigator: Richard Roxburgh, BSC MB PhD         
Sponsors and Collaborators
Children's Hospital of Philadelphia
Friedreich's Ataxia Research Alliance
University of Rochester
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Principal Investigator: David Lynch, MD PhD Children's Hospital of Philadelphia
Additional Information:

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Responsible Party: Children's Hospital of Philadelphia
ClinicalTrials.gov Identifier: NCT03090789    
Other Study ID Numbers: 01-002609
First Posted: March 27, 2017    Key Record Dates
Last Update Posted: November 9, 2022
Last Verified: November 2022
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

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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:
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Cerebellar Ataxia
Friedreich Ataxia
Neurodegenerative Diseases
Neurologic Manifestations
Nervous System Diseases
Cerebellar Diseases
Brain Diseases
Central Nervous System Diseases
Spinocerebellar Degenerations
Spinal Cord Diseases
Heredodegenerative Disorders, Nervous System
Genetic Diseases, Inborn
Mitochondrial Diseases
Metabolic Diseases