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Neurology Measures in FA Children

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ClinicalTrials.gov Identifier: NCT03418740
Recruitment Status : Active, not recruiting
First Posted : February 1, 2018
Last Update Posted : November 3, 2022
University of Florida
University of California, Los Angeles
Information provided by (Responsible Party):
Children's Hospital of Philadelphia

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).

Condition or disease
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.

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Study Type : Observational [Patient Registry]
Estimated Enrollment : 110 participants
Observational Model: Cohort
Time Perspective: Prospective
Target Follow-Up Duration: 3 Years
Official Title: Neurological Measures of Progression in Children With Friedrich Ataxia
Actual Study Start Date : November 20, 2017
Estimated Primary Completion Date : February 2, 2023
Estimated Study Completion Date : February 2, 2023

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

Primary Outcome Measures :
  1. 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.

Secondary Outcome Measures :
  1. 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.

Other Outcome Measures:
  1. 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.

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.

Information from the National Library of Medicine

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Ages Eligible for Study:   2 Years to 18 Years   (Child, Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
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.

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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03418740

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United States, California
University of California, Los Angeles
Los Angeles, California, United States, 90095
United States, Florida
University of Florida
Gainesville, Florida, United States, 32611
United States, Pennsylvania
Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, United States, 19104
Sponsors and Collaborators
Children's Hospital of Philadelphia
University of Florida
University of California, Los Angeles
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Principal Investigator: David Lynch, MD, PhD Children's Hospital of Philadelphia
Additional Information:

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Responsible Party: Children's Hospital of Philadelphia
ClinicalTrials.gov Identifier: NCT03418740    
Other Study ID Numbers: 17-014390
FD006029-01 ( Other Grant/Funding Number: FDA )
First Posted: February 1, 2018    Key Record Dates
Last Update Posted: November 3, 2022
Last Verified: November 2022

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by Children's Hospital of Philadelphia:
Friedrich Ataxia (FRDA)
Additional relevant MeSH terms:
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Cerebellar Ataxia
Friedreich Ataxia
Neurologic Manifestations
Nervous System Diseases
Cerebellar Diseases
Brain Diseases
Central Nervous System Diseases
Spinocerebellar Degenerations
Spinal Cord Diseases
Heredodegenerative Disorders, Nervous System
Neurodegenerative Diseases
Genetic Diseases, Inborn
Mitochondrial Diseases
Metabolic Diseases