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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 : October 5, 2020
Sponsor:
Collaborators:
Friedreich's Ataxia Research Alliance
University of Rochester
Information provided by (Responsible Party):
Children's Hospital of Philadelphia

Tracking Information
First Submitted Date March 10, 2017
First Posted Date March 27, 2017
Last Update Posted Date October 5, 2020
Actual Study Start Date January 1, 2001
Estimated Primary Completion Date January 1, 2030   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: March 21, 2017)
Friedreich Ataxia Rating Scale [ Time Frame: once every 1 year ]
rating scale based on clinical neurologic examination
Original Primary Outcome Measures Same as current
Change History
Current Secondary Outcome Measures
 (submitted: March 21, 2017)
  • 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.
Original Secondary Outcome Measures Same as current
Current Other Pre-specified Outcome Measures
 (submitted: March 21, 2017)
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
Original Other Pre-specified Outcome Measures Same as current
 
Descriptive Information
Brief Title FA Clinical Outcome Measures
Official Title Clinical Outcome Measures in Friedreich's Ataxia
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.
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]
Study Design Observational Model: Case-Control
Time Perspective: Prospective
Target Follow-Up Duration 15 Years
Biospecimen Retention:   Samples With DNA
Description:
Optional sample collection offered to study participants; whole blood and/or cheek swab may be collected as a one-time procedure.
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.
Condition
  • Friedreich Ataxia
  • Neuro-Degenerative Disease
Intervention Not Provided
Study Groups/Cohorts 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.
Publications * Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Recruiting
Estimated Enrollment
 (submitted: March 21, 2017)
1500
Original Estimated Enrollment Same as current
Estimated Study Completion Date January 1, 2030
Estimated Primary Completion Date January 1, 2030   (Final data collection date for primary outcome measure)
Eligibility 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)

Sex/Gender
Sexes Eligible for Study: All
Ages 4 Years to 80 Years   (Child, Adult, Older Adult)
Accepts Healthy Volunteers Yes
Contacts
Contact: Jennifer Farmer, MS CGC 484-879-6160 jen.farmer@curefa.org
Listed Location Countries Australia,   Canada,   New Zealand,   United States
Removed Location Countries  
 
Administrative Information
NCT Number NCT03090789
Other Study ID Numbers 01-002609
Has Data Monitoring Committee No
U.S. FDA-regulated Product
Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
IPD Sharing Statement
Plan to Share IPD: No
Responsible Party Children's Hospital of Philadelphia
Study Sponsor Children's Hospital of Philadelphia
Collaborators
  • Friedreich's Ataxia Research Alliance
  • University of Rochester
Investigators
Principal Investigator: David Lynch, MD PhD Children's Hospital of Philadelphia
PRS Account Children's Hospital of Philadelphia
Verification Date October 2020