- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT03090789
FA Clinical Outcome Measures (FA-COMS)
Clinical Outcome Measures in Friedreich's Ataxia
Study Overview
Status
Conditions
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.
Study Type
Enrollment (Estimated)
Contacts and Locations
Study Contact
- Name: Cait Monette
- Phone Number: 651-329-1892
- Email: cait.monette@curefa.org
Study Locations
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Victoria
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Parkville, Victoria, Australia, 3052
- Active, not recruiting
- Murdoch Childrens Research Institute
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Ontario
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Toronto, Ontario, Canada
- Recruiting
- The Hospital for Sick Children
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Principal Investigator:
- Grace Yoon, MD
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Contact:
- Adrien DAlonzo
- Phone Number: 228623 416-813-7654
- Email: adrien.dalonzo@sickkids.ca
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Quebec
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Montréal, Quebec, Canada, h2x0a9
- Active, not recruiting
- CHUM - Hopital Notre-Dame
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New Delhi, India, 110020
- Active, not recruiting
- All India Institute of Medical Sciences (AIIMS)
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Auckland, New Zealand
- Recruiting
- Auckland City Hospital
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Principal Investigator:
- Richard Roxburgh, BSC MB PhD
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Contact:
- Juno Barnett Collins
- Phone Number: +64 21 028 43954
- Email: juno.barnett.collins@auckland.ac.nz
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California
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Los Angeles, California, United States, 90095
- Active, not recruiting
- UCLA Ataxia Center
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Colorado
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Denver, Colorado, United States, 80045
- Active, not recruiting
- University of Colorado
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Florida
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Gainesville, Florida, United States, 32610
- Recruiting
- University of Florida - Neurology
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Contact:
- MacKenzi Coker
- Phone Number: 352-294-8706
- Email: mcoker@peds.ufl.edu
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Principal Investigator:
- SH Subramony, MD
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Tampa, Florida, United States, 33612
- Recruiting
- USF Ataxia Research Center
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Principal Investigator:
- Theresa Zesiewicz, MD
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Contact:
- Lucretia Campbell
- Phone Number: 813-947-5633
- Email: lcampbel@usf.edu
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Georgia
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Atlanta, Georgia, United States, 30329
- Active, not recruiting
- Emory University Hospital - Neurology
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Iowa
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Iowa City, Iowa, United States, 52242
- Recruiting
- University of Iowa, Stead Family Children's Hospital
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Contact:
- Corey McDaniel
- Phone Number: 319-335-7498
- Email: corey-mcdaniel@uiowa.edu
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Principal Investigator:
- Katherine Mathews, MD
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Ohio
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Columbus, Ohio, United States, 43221
- Recruiting
- Ohio State University - Neurology
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Contact:
- Marco Tellez
- Phone Number: 614-688-7837
- Email: marco.tellez@osumc.edu
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Principal Investigator:
- Chad Hoyle, MD
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Pennsylvania
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Philadelphia, Pennsylvania, United States, 19104
- Active, not recruiting
- Children's Hospital of Philadelphia - Neurology
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Tennessee
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Memphis, Tennessee, United States, 38105
- Recruiting
- St. Jude Children's Research Hospital
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Contact:
- Colin Quillivan
- Phone Number: 901-595-6266
- Email: Colin.Quillivan@STJUDE.ORG
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Principal Investigator:
- RICHARD FINKEL
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Participation Criteria
Eligibility Criteria
Ages Eligible for Study
Accepts Healthy Volunteers
Sampling Method
Study Population
Description
Inclusion Criteria:
- 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.
Exclusion Criteria:
1) Signs or symptoms of severe cardiomyopathy (such as congestive heart failure)
Study Plan
How is the study designed?
Design Details
- Observational Models: Case-Control
- Time Perspectives: Prospective
Cohorts and Interventions
Group / Cohort |
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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.
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What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
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Friedreich Ataxia Rating Scale
Time Frame: once every 1 year
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rating scale based on clinical neurologic examination
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once every 1 year
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Secondary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
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9-hole peg test
Time Frame: once every 1 year
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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
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once every 1 year
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timed 25 foot walk
Time Frame: once every 1 year
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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.
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once every 1 year
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Vision assessment
Time Frame: once every 1 year
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High and low contrast visual acuity tested on patients with FA who are able to perform this test.
Glasses or contact lenses are permitted.
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once every 1 year
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Quality of Life Questionnaires
Time Frame: once every 1 year
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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.
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once every 1 year
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Other Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
Optional sample collection
Time Frame: once every 1 year
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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
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once every 1 year
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Collaborators and Investigators
Investigators
- Principal Investigator: David Lynch, MD PhD, Children's Hospital of Philadelphia
Study record dates
Study Major Dates
Study Start (Actual)
Primary Completion (Estimated)
Study Completion (Estimated)
Study Registration Dates
First Submitted
First Submitted That Met QC Criteria
First Posted (Actual)
Study Record Updates
Last Update Posted (Actual)
Last Update Submitted That Met QC Criteria
Last Verified
More Information
Terms related to this study
Additional Relevant MeSH Terms
- Metabolic Diseases
- Brain Diseases
- Central Nervous System Diseases
- Nervous System Diseases
- Neurologic Manifestations
- Genetic Diseases, Inborn
- Dyskinesias
- Spinal Cord Diseases
- Heredodegenerative Disorders, Nervous System
- Mitochondrial Diseases
- Cerebellar Diseases
- Spinocerebellar Degenerations
- Neurodegenerative Diseases
- Ataxia
- Cerebellar Ataxia
- Friedreich Ataxia
Other Study ID Numbers
- 01-002609
Plan for Individual participant data (IPD)
Plan to Share Individual Participant Data (IPD)?
Drug and device information, study documents
Studies a U.S. FDA-regulated drug product
Studies a U.S. FDA-regulated device product
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.
Clinical Trials on Friedreich Ataxia
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Children's Hospital of PhiladelphiaNational Heart, Lung, and Blood Institute (NHLBI)Recruiting
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University of ChicagoPfizer; Biogen; APDM Wearable TechnologiesActive, not recruitingSpinocerebellar Ataxia Type 3 | Friedreich Ataxia | Spinocerebellar Ataxia Type 1 | Spinocerebellar Ataxia Type 2 | Spinocerebellar Ataxia Type 6United States
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University of South FloridaCompletedFriedreich's Ataxia | Spinocerebellar Ataxia - All Sub-typesUnited States
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Santhera PharmaceuticalsCompletedFreidreich's AtaxiaGermany, Netherlands, France, Austria, Belgium
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Institut National de la Santé Et de la Recherche...Not yet recruiting
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PTC TherapeuticsActive, not recruitingFriedreich AtaxiaUnited States
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PTC TherapeuticsCompletedFriedreich AtaxiaUnited States, Australia, Brazil, Canada, France, Germany, Italy, New Zealand, Spain
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PTC TherapeuticsEnrolling by invitationFriedreich AtaxiaUnited States, Australia, Brazil, Canada, France, Germany, Italy, New Zealand, Spain
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Children's Hospital of PhiladelphiaFriedreich's Ataxia Research Alliance; Stealth BioTherapeutics Inc.Active, not recruitingFriedreich AtaxiaUnited States
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Metro International Biotech, LLCChildren's Hospital of PhiladelphiaCompleted