FA Clinical Outcome Measures (FA-COMS)

Clinical Outcome Measures in Friedreich's Ataxia

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.

This natural history study is no longer recruiting under this protocol NCT03090789 but remains actively recruiting under the harmonized study (UNIFAI) NCT06016946.

Study Overview

• Status: Active, not recruiting
• Conditions: 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 Type: Observational
• Enrollment (Estimated): 2000

Contacts and Locations

Study Locations

• Australia
  • Victoria
    • Parkville, Victoria, Australia, 3052
      • Murdoch Childrens Research Institute
• Canada
  • Ontario
    • Toronto, Ontario, Canada
      • The Hospital for Sick Children
  • Quebec
    • Montréal, Quebec, Canada, h2x0a9
      • CHUM - Hopital Notre-Dame
• India
  • New Delhi, India, 110020
    • All India Institute of Medical Sciences (AIIMS)
• New Zealand
  • Auckland, New Zealand
    • Auckland City Hospital
• United States
  • California
    • Los Angeles, California, United States, 90095
      • UCLA Ataxia Center
  • Colorado
    • Denver, Colorado, United States, 80045
      • University of Colorado
  • Florida
    • Gainesville, Florida, United States, 32610
      • University of Florida - Neurology
    • Tampa, Florida, United States, 33612
      • USF Ataxia Research Center
  • Georgia
    • Atlanta, Georgia, United States, 30329
      • Emory University Hospital - Neurology
  • Iowa
    • Iowa City, Iowa, United States, 52242
      • University of Iowa, Stead Family Children's Hospital
  • Ohio
    • Columbus, Ohio, United States, 43221
      • Ohio State University - Neurology
  • Pennsylvania
    • Philadelphia, Pennsylvania, United States, 19104
      • Children's Hospital of Philadelphia - Neurology
  • Tennessee
    • Memphis, Tennessee, United States, 38105
      • St. Jude Children's Research Hospital

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 4 years to 80 years (Child, Adult, Older Adult)
• 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.

Description

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)

Study Plan

How is the study designed?

Design Details

• Observational Models: Case-Control
• Time Perspectives: Prospective

Number of groups / cohorts

1

Cohorts and Interventions

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.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Friedreich Ataxia Rating Scale	rating scale based on clinical neurologic examination	once every 1 year

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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
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
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
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

Other Outcome Measures

Outcome Measure	Measure Description	Time Frame
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

Collaborators and Investigators

• Sponsor: Friedreich's Ataxia Research Alliance
• Collaborators: Children's Hospital of Philadelphia; University of Rochester
• Investigators: Principal Investigator: David Lynch, MD PhD, Children's Hospital of Philadelphia

Study record dates

Study Major Dates

• Study Start (Actual): January 1, 2001
• Primary Completion (Estimated): January 1, 2030
• Study Completion (Estimated): January 1, 2030

Study Registration Dates

• First Submitted: March 10, 2017
• First Submitted That Met QC Criteria: March 21, 2017
• First Posted (Actual): March 27, 2017

Study Record Updates

• Last Update Posted (Actual): October 4, 2024
• Last Update Submitted That Met QC Criteria: October 2, 2024
• Last Verified: October 1, 2024

More Information

Terms related to this study

• Keywords: Friedreich Ataxia; Neuro-degenerative disease
• Additional Relevant MeSH Terms: Metabolic Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Neurologic Manifestations; Genetic Diseases, Inborn; Dyskinesias; Spinal Cord Diseases; Heredodegenerative Disorders, Nervous System; Mitochondrial Diseases; Cerebellar Diseases; Spinocerebellar Degenerations; Neurodegenerative Diseases; Ataxia; Cerebellar Ataxia; Friedreich Ataxia
• Other Study ID Numbers: 01-002609

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No
• product manufactured in and exported from the U.S.: No