FA Clinical Outcome Measures (FA-COMS)
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| ClinicalTrials.gov Identifier: NCT03090789 |
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Recruitment Status :
Recruiting
First Posted : March 27, 2017
Last Update Posted : February 9, 2018
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| Condition or disease |
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| Friedreich Ataxia Neuro-Degenerative Disease |
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 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 |
| 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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- Friedreich Ataxia Rating Scale [ Time Frame: once every 1 year ]rating scale based on clinical neurologic examination
- 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
- 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.
- 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.
- 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.
- 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
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.
| 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 |
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)
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
| Contact: Jennifer Farmer, MS CGC | 484-879-6160 | jen.farmer@curefa.org |
| 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 | |
| Principal Investigator: | David Lynch, MD PhD | Children's Hospital of Philadelphia |
| 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 Key Record Dates |
| 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:
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Friedreich Ataxia Neuro-degenerative disease |
Additional relevant MeSH terms:
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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 |