Neurology Measures in FA Children

NCT ID: NCT03418740

Last Updated: 2025-01-16

Study Results

Results available

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Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

108 participants

Study Classification

OBSERVATIONAL

Study Start Date

2017-11-20

Study Completion Date

2023-02-02

Brief Summary

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The purpose of this study is to identify ways to follow progression of Friedreich's Ataxia (FA) and be able to measure changes over time in children with FA. Participants will have biannual visits to observe how the disease progresses over time and determine the rate of progression.

Funding Source- Food and Drug Administration Office of Orphan Products Development (FDA OOPD).

Detailed Description

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Investigators seek to identify biological and clinical tests to be used in future clinical trials. The purpose of this research study is to learn more about Friedreich's Ataxia (FA) progression in children. There will be biannual visits which will include a core set of tests and procedures. These include: a collection of medical history, detailed neurological exam, ataxia scales, and health questionnaires. At each visit, blood and cheek swab samples will be obtained to monitor frataxin levels.

A select number of Children's Hospital of Philadelphia (CHOP) participants will have the opportunity to participate in further procedures to better understand how FA affects different tissues. These include a Magnetic Resonance Imaging (MRI) scan and a Motor Evoked Potentials (MEP) procedure.

The MRI scan analyzes how muscle activity is affected in FA. The magnet will be used to capture images of the calf muscle before and after exercising on an ergonomic foot pedal.

The MEP procedure measures how strong the connection is between the brain's motor cortex and a selected body part, specifically the participant's dominant hand.

Conditions

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Friedreich Ataxia

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Study Groups

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FA Children

Children between the ages of 2 and 18 with genetically confirmed Friedreich's Ataxia

No interventions assigned to this group

Eligibility Criteria

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Inclusion Criteria

1. Males or females age 2 to 18 years.
2. Genetically confirmed diagnosis of Friedreich's Ataxia (FA) or clinically confirmed diagnosis of FA, pending confirmatory genetic testing through a commercial or research laboratory
3. Parental/guardian permission (informed consent) and if appropriate, child assent.

Exclusion Criteria

1\) Inability to complete study evaluations
Minimum Eligible Age

2 Years

Maximum Eligible Age

18 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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University of Florida

OTHER

Sponsor Role collaborator

University of California, Los Angeles

OTHER

Sponsor Role collaborator

Food and Drug Administration (FDA)

FED

Sponsor Role collaborator

Friedreich's Ataxia Research Alliance

OTHER

Sponsor Role collaborator

Children's Hospital of Philadelphia

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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University of California, Los Angeles

Los Angeles, California, United States

Site Status

University of Florida

Gainesville, Florida, United States

Site Status

Children's Hospital of Philadelphia

Philadelphia, Pennsylvania, United States

Site Status

Countries

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United States

Provided Documents

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Document Type: Study Protocol and Statistical Analysis Plan

View Document

Other Identifiers

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FD006029-01

Identifier Type: OTHER_GRANT

Identifier Source: secondary_id

17-014390

Identifier Type: -

Identifier Source: org_study_id

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