FA-COMS: FA Clinical Outcome Measures

Sponsor

Children's Hospital of Philadelphia (Other)

Overall Status

Recruiting

CT.gov ID

NCT03090789

Collaborator

Friedreich's Ataxia Research Alliance (Other), University of Rochester (Other)

2,000

Enrollment

Locations

348

Anticipated Duration (Months)

142.9

Patients Per Site

0.4

Patients Per Site Per Month

Study Details

Study Description

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	Intervention/Treatment	Phase
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 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 Design

Study Type:

Observational [Patient Registry]

Anticipated Enrollment :

2000 participants

Observational Model:

Case-Control

Time Perspective:

Prospective

Official Title:

Clinical Outcome Measures in Friedreich's Ataxia

Actual Study Start Date :

Jan 1, 2001

Anticipated Primary Completion Date :

Jan 1, 2030

Anticipated Study Completion Date :

Jan 1, 2030

Arms and Interventions

Arm	Intervention/Treatment
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.

Outcome Measures

Primary Outcome Measures

Friedreich Ataxia Rating Scale [once every 1 year]
rating scale based on clinical neurologic examination

Secondary Outcome Measures

9-hole peg test [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 [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 [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 [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

Optional sample collection [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

Eligibility Criteria

Criteria

Ages Eligible for Study:

4 Years to 80 Years

Sexes Eligible for Study:

All

Accepts Healthy Volunteers:

Yes

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:

Signs or symptoms of severe cardiomyopathy (such as congestive heart failure)

Contacts and Locations

Locations

	Site	City	State	Country	Postal Code
1	UCLA Ataxia Center	Los Angeles	California	United States	90095
2	University of Colorado	Denver	Colorado	United States	80045
3	University of Florida - Neurology	Gainesville	Florida	United States	32610
4	USF Ataxia Research Center	Tampa	Florida	United States	33612
5	Emory University Hospital - Neurology	Atlanta	Georgia	United States	30329
6	University of Iowa, Stead Family Children's Hospital	Iowa City	Iowa	United States	52242
7	Ohio State University - Neurology	Columbus	Ohio	United States	43221
8	Children's Hospital of Philadelphia - Neurology	Philadelphia	Pennsylvania	United States	19104
9	St. Jude Children's Research Hospital	Memphis	Tennessee	United States	38105
10	Murdoch Childrens Research Institute	Parkville	Victoria	Australia	3052
11	The Hospital for Sick Children	Toronto	Ontario	Canada
12	CHUM - Hopital Notre-Dame	Montréal	Quebec	Canada	h2x0a9
13	All India Institute of Medical Sciences (Aiims)	New Delhi		India	110020
14	Auckland City Hospital	Auckland		New Zealand