FA Clinical Outcome Measures
FA-COMS
Clinical Outcome Measures in Friedreich's Ataxia
1 other identifier
observational
2,000
5 countries
14
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. This natural history study is no longer recruiting under this protocol NCT03090789 but remains actively recruiting under the harmonized study (UNIFAI) NCT06016946.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P75+ for all trials
Started Jan 2001
Longer than P75 for all trials
14 active sites
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
Click on a node to explore related trials.
Study Timeline
Key milestones and dates
Study Start
First participant enrolled
January 1, 2001
CompletedFirst Submitted
Initial submission to the registry
March 10, 2017
CompletedFirst Posted
Study publicly available on registry
March 27, 2017
CompletedPrimary Completion
Last participant's last visit for primary outcome
January 1, 2030
ExpectedStudy Completion
Last participant's last visit for all outcomes
January 1, 2030
October 4, 2024
October 1, 2024
29 years
March 10, 2017
October 2, 2024
Conditions
Keywords
Outcome Measures
Primary Outcomes (1)
Friedreich Ataxia Rating Scale
rating scale based on clinical neurologic examination
once every 1 year
Secondary Outcomes (4)
9-hole peg test
once every 1 year
timed 25 foot walk
once every 1 year
Vision assessment
once every 1 year
Quality of Life Questionnaires
once every 1 year
Other Outcomes (1)
Optional sample collection
once every 1 year
Study Arms (1)
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.
Eligibility Criteria
Participants with either a clinical diagnosis or genetic test confirmation of Friedreich ataxia. Study also accepts carriers of Friedreich ataxia along with healthy volunteers.
You may qualify if:
- Males or females age 4 to 80 years.
- Genetically confirmed diagnosis of FA (for carrier/control cheek swab and blood samples this is not required).
- 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).
- Parental/guardian permission (informed consent) and if appropriate, child assent.
You may not qualify if:
- \) Signs or symptoms of severe cardiomyopathy (such as congestive heart failure)
Contact the study team to confirm eligibility.
Sponsors & Collaborators
- Friedreich's Ataxia Research Alliancelead
- University of Rochestercollaborator
- Children's Hospital of Philadelphiacollaborator
Study Sites (14)
UCLA Ataxia Center
Los Angeles, California, 90095, United States
University of Colorado
Denver, Colorado, 80045, United States
University of Florida - Neurology
Gainesville, Florida, 32610, United States
USF Ataxia Research Center
Tampa, Florida, 33612, United States
Emory University Hospital - Neurology
Atlanta, Georgia, 30329, United States
University of Iowa, Stead Family Children's Hospital
Iowa City, Iowa, 52242, United States
Ohio State University - Neurology
Columbus, Ohio, 43221, United States
Children's Hospital of Philadelphia - Neurology
Philadelphia, Pennsylvania, 19104, United States
St. Jude Children's Research Hospital
Memphis, Tennessee, 38105, United States
Murdoch Childrens Research Institute
Parkville, Victoria, 3052, Australia
The Hospital for Sick Children
Toronto, Ontario, Canada
CHUM - Hopital Notre-Dame
Montreal, Quebec, h2x0a9, Canada
All India Institute of Medical Sciences (Aiims)
New Delhi, 110020, India
Auckland City Hospital
Auckland, New Zealand
Biospecimen
Optional sample collection offered to study participants; whole blood and/or cheek swab may be collected as a one-time procedure.
MeSH Terms
Conditions
Condition Hierarchy (Ancestors)
Study Officials
- PRINCIPAL INVESTIGATOR
David Lynch, MD PhD
Children's Hospital of Philadelphia
Study Design
- Study Type
- observational
- Observational Model
- CASE CONTROL
- Time Perspective
- PROSPECTIVE
- Target Duration
- 25 Years
- Sponsor Type
- OTHER
- Responsible Party
- SPONSOR
Study Record Dates
First Submitted
March 10, 2017
First Posted
March 27, 2017
Study Start
January 1, 2001
Primary Completion (Estimated)
January 1, 2030
Study Completion (Estimated)
January 1, 2030
Last Updated
October 4, 2024
Record last verified: 2024-10
Data Sharing
- IPD Sharing
- Will not share