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Neurology Measures in FA Children

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT03418740
Recruitment Status : Recruiting
First Posted : February 1, 2018
Last Update Posted : April 29, 2020
University of Florida
University of California, Los Angeles
Information provided by (Responsible Party):
Children's Hospital of Philadelphia

Tracking Information
First Submitted Date January 26, 2018
First Posted Date February 1, 2018
Last Update Posted Date April 29, 2020
Actual Study Start Date November 20, 2017
Estimated Primary Completion Date December 31, 2021   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: January 26, 2018)
Clinical markers in disease progression in children with FA [ Time Frame: 3 years ]
Identify markers of disease progression in children with FA and assess potential clinical measures of disease progression in the youngest subjects.
Original Primary Outcome Measures Same as current
Change History
Current Secondary Outcome Measures
 (submitted: January 26, 2018)
Biochemical assessment of frataxin deficiency in children with FA [ Time Frame: 3 years ]
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.
Original Secondary Outcome Measures Same as current
Current Other Pre-specified Outcome Measures
 (submitted: January 26, 2018)
Physiological dysfunction in affected tissues in children with FA [ Time Frame: 3 years ]
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.
Original Other Pre-specified Outcome Measures Same as current
Descriptive Information
Brief Title Neurology Measures in FA Children
Official Title Neurological Measures of Progression in Children With Friedrich Ataxia
Brief Summary

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

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 [Patient Registry]
Study Design Observational Model: Cohort
Time Perspective: Prospective
Target Follow-Up Duration 3 Years
Biospecimen Retention:   Samples With DNA

Whole blood and plasma to measure frataxin protein and other present biomarkers.

Buccal cells (inner cheek cells) to measure frataxin protein levels.

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.
Condition Friedreich Ataxia
Intervention Not Provided
Study Groups/Cohorts FA Children
Children between the ages of 2 and 18 with genetically confirmed Friedreich's Ataxia
Publications * Not Provided

*   Includes publications given by the data provider as well as publications identified by Identifier (NCT Number) in Medline.
Recruitment Information
Recruitment Status Recruiting
Estimated Enrollment
 (submitted: April 28, 2020)
Original Estimated Enrollment
 (submitted: January 26, 2018)
Estimated Study Completion Date December 31, 2021
Estimated Primary Completion Date December 31, 2021   (Final data collection date for primary outcome measure)
Eligibility Criteria

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

Sexes Eligible for Study: All
Ages 2 Years to 18 Years   (Child, Adult)
Accepts Healthy Volunteers No
Contact: Alexandra Clay 267-426-7584 ext 67584
Listed Location Countries United States
Removed Location Countries  
Administrative Information
NCT Number NCT03418740
Other Study ID Numbers 17-014390
FD006029-01 ( Other Grant/Funding Number: FDA )
Has Data Monitoring Committee No
U.S. FDA-regulated Product
Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
IPD Sharing Statement Not Provided
Responsible Party Children's Hospital of Philadelphia
Study Sponsor Children's Hospital of Philadelphia
  • University of Florida
  • University of California, Los Angeles
Principal Investigator: David Lynch, MD, PhD Children's Hospital of Philadelphia
PRS Account Children's Hospital of Philadelphia
Verification Date April 2020