FA Clinical Outcome Measures

Friedreich Ataxia Clinical Trial

— FA-COMS  

Official title:

Clinical Outcome Measures in Friedreich's Ataxia

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT03090789
• Other study ID #: 01-002609
• Status: Recruiting
• Start date: January 1, 2001
• Est. completion date: January 1, 2030

Study information

• Verified date: January 2024
• Source: Friedreich's Ataxia Research Alliance
• Contact: Cait Monette
• Phone: 651-329-1892
• Email: cait.monette[@]curefa.org
• Is FDA regulated: No
• Study type: Observational [Patient Registry]

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 2000
• Est. completion date: January 1, 2030
• Est. primary completion date: January 1, 2030
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: All
• Age group: 4 Years to 80 Years

Eligibility

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)

Related Conditions & MeSH terms

• Ataxia
• Cerebellar Ataxia
• Friedreich Ataxia
• Neuro-Degenerative Disease
• Neurodegenerative Diseases

Locations

Country	Name	City	State
Australia	Murdoch Childrens Research Institute	Parkville	Victoria
Canada	CHUM - Hopital Notre-Dame	Montréal	Quebec
Canada	The Hospital for Sick Children	Toronto	Ontario
India	All India Institute of Medical Sciences (Aiims)	New Delhi
New Zealand	Auckland City Hospital	Auckland
United States	Emory University Hospital - Neurology	Atlanta	Georgia
United States	Ohio State University - Neurology	Columbus	Ohio
United States	University of Colorado	Denver	Colorado
United States	University of Florida - Neurology	Gainesville	Florida
United States	University of Iowa, Stead Family Children's Hospital	Iowa City	Iowa
United States	UCLA Ataxia Center	Los Angeles	California
United States	St. Jude Children's Research Hospital	Memphis	Tennessee
United States	Children's Hospital of Philadelphia - Neurology	Philadelphia	Pennsylvania
United States	USF Ataxia Research Center	Tampa	Florida

Sponsors (3)

Lead Sponsor	Collaborator
Friedreich's Ataxia Research Alliance	Children's Hospital of Philadelphia, University of Rochester

Countries where clinical trial is conducted

United States,  Australia,  Canada,  India,  New Zealand, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Other	Optional sample collection	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	once every 1 year
Primary	Friedreich Ataxia Rating Scale	rating scale based on clinical neurologic examination	once every 1 year
Secondary	9-hole peg test	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	once every 1 year
Secondary	timed 25 foot walk	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.	once every 1 year
Secondary	Vision assessment	High and low contrast visual acuity tested on patients with FA who are able to perform this test. Glasses or contact lenses are permitted.	once every 1 year
Secondary	Quality of Life Questionnaires	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.	once every 1 year