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Trial record 9 of 57 for:    Friedreich's Ataxia

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 : February 9, 2018
Sponsor:
Collaborators:
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 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
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.


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)


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


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

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:
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