FA Clinical Outcome Measures

NCT ID: NCT03090789

Last Updated: 2024-10-04

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

ACTIVE_NOT_RECRUITING

Total Enrollment

2000 participants

Study Classification

OBSERVATIONAL

Study Start Date

2001-01-01

Study Completion Date

2030-01-01

Brief Summary

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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.

Detailed Description

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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.

Conditions

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Friedreich Ataxia Neuro-Degenerative Disease

Study Design

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Observational Model Type

CASE_CONTROL

Study Time Perspective

PROSPECTIVE

Study Groups

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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.

No interventions assigned to this group

Eligibility Criteria

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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)
Minimum Eligible Age

4 Years

Maximum Eligible Age

80 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

Yes

Sponsors

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University of Rochester

OTHER

Sponsor Role collaborator

Children's Hospital of Philadelphia

OTHER

Sponsor Role collaborator

Friedreich's Ataxia Research Alliance

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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David Lynch, MD PhD

Role: PRINCIPAL_INVESTIGATOR

Children's Hospital of Philadelphia

Locations

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UCLA Ataxia Center

Los Angeles, California, United States

Site Status

University of Colorado

Denver, Colorado, United States

Site Status

University of Florida - Neurology

Gainesville, Florida, United States

Site Status

USF Ataxia Research Center

Tampa, Florida, United States

Site Status

Emory University Hospital - Neurology

Atlanta, Georgia, United States

Site Status

University of Iowa, Stead Family Children's Hospital

Iowa City, Iowa, United States

Site Status

Ohio State University - Neurology

Columbus, Ohio, United States

Site Status

Children's Hospital of Philadelphia - Neurology

Philadelphia, Pennsylvania, United States

Site Status

St. Jude Children's Research Hospital

Memphis, Tennessee, United States

Site Status

Murdoch Childrens Research Institute

Parkville, Victoria, Australia

Site Status

The Hospital for Sick Children

Toronto, Ontario, Canada

Site Status

CHUM - Hopital Notre-Dame

Montreal, Quebec, Canada

Site Status

All India Institute of Medical Sciences (Aiims)

New Delhi, , India

Site Status

Auckland City Hospital

Auckland, , New Zealand

Site Status

Countries

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United States Australia Canada India New Zealand

Other Identifiers

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01-002609

Identifier Type: -

Identifier Source: org_study_id

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