Neurology Measures in FA Children

Neurological Measures of Progression in Children With Friedrich Ataxia

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).

Study Overview

• Status: Completed
• Conditions: Friedreich Ataxia

Detailed Description

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.

• Study Type: Observational
• Enrollment (Actual): 108

Contacts and Locations

Study Locations

• United States
  • California
    • Los Angeles, California, United States, 90095
      • University of California, Los Angeles
  • Florida
    • Gainesville, Florida, United States, 32611
      • University of Florida
  • Pennsylvania
    • Philadelphia, Pennsylvania, United States, 19104
      • Children's Hospital of Philadelphia

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 2 years to 18 years (Child, Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Probability Sample

Study Population

This study will primarily take place at the Children's Hospital of Philadelphia (CHOP), with a select number of subjects only participating in the clinical testing at the University of Florida and University of California Los Angeles (UCLA). The investigators expect to recruit approximately 100 children across all three sites and study each of them over a 3 year period. Children with a genetically or clinically confirmed diagnosis of Friedreich's Ataxia (FA) will be offered participation.

Description

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

Study Plan

How is the study designed?

Design Details

• Observational Models: Cohort
• Time Perspectives: Prospective

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort
FA Children; Children between the ages of 2 and 18 with genetically confirmed Friedreich's Ataxia

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Clinical markers in disease progression in children with FA	Identify markers of disease progression in children with FA and assess potential clinical measures of disease progression in the youngest subjects.	3 years

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Biochemical assessment of frataxin deficiency in children with FA	Assess the biochemistry of frataxin deficiency in children with FA. Measure frataxin deficiency and downstream metabolic function. Understand how these biochemical markers change over time. Support genetic modifier studies and biomarker studies. Evaluate the clinical utility of measuring frataxin levels in easily-accessible tissue samples, cheek swabs, suitable for the repetitive testing needed to monitor efficacy of therapies designed to up-regulate levels of frataxin protein.	3 years

Other Outcome Measures

Outcome Measure	Measure Description	Time Frame
Physiological dysfunction in affected tissues in children with FA	Define the progression of physiological dysfunction in affected tissues in children with FA. Use noninvasive testing to assess the physiological correlates of progression of FA.	3 years

Collaborators and Investigators

• Sponsor: Children's Hospital of Philadelphia
• Collaborators: University of California, Los Angeles; University of Florida
• Investigators: Principal Investigator: David Lynch, MD, PhD, Children's Hospital of Philadelphia

Study record dates

Study Major Dates

• Study Start (Actual): November 20, 2017
• Primary Completion (Actual): February 2, 2023
• Study Completion (Actual): February 2, 2023

Study Registration Dates

• First Submitted: January 26, 2018
• First Submitted That Met QC Criteria: January 26, 2018
• First Posted (Actual): February 1, 2018

Study Record Updates

• Last Update Posted (Actual): February 24, 2023
• Last Update Submitted That Met QC Criteria: February 23, 2023
• Last Verified: February 1, 2023

More Information

Terms related to this study

• Keywords: FRDA; Ataxia; FA; Friedreich; Friedrich Ataxia (FRDA)
• Additional Relevant MeSH Terms: Metabolic Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Neurologic Manifestations; Genetic Diseases, Inborn; Neurodegenerative Diseases; Dyskinesias; Spinal Cord Diseases; Heredodegenerative Disorders, Nervous System; Mitochondrial Diseases; Cerebellar Diseases; Spinocerebellar Degenerations; Ataxia; Cerebellar Ataxia; Friedreich Ataxia
• Other Study ID Numbers: 17-014390; FD006029-01 (Other Grant/Funding Number: FDA)

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No