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Clinical Trial Details — Status: Completed

Administrative data

NCT number NCT03418740
Other study ID # 17-014390
Secondary ID FD006029-01
Status Completed
Phase
First received
Last updated
Start date November 20, 2017
Est. completion date February 2, 2023

Study information

Verified date February 2023
Source Children's Hospital of Philadelphia
Contact n/a
Is FDA regulated No
Health authority
Study type Observational [Patient Registry]

Clinical Trial 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).


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.


Recruitment information / eligibility

Status Completed
Enrollment 108
Est. completion date February 2, 2023
Est. primary completion date February 2, 2023
Accepts healthy volunteers No
Gender All
Age group 2 Years to 18 Years
Eligibility 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 Design


Related Conditions & MeSH terms


Locations

Country Name City State
United States University of Florida Gainesville Florida
United States University of California, Los Angeles Los Angeles California
United States Children's Hospital of Philadelphia Philadelphia Pennsylvania

Sponsors (3)

Lead Sponsor Collaborator
Children's Hospital of Philadelphia University of California, Los Angeles, University of Florida

Country where clinical trial is conducted

United States, 

Outcome

Type Measure Description Time frame Safety issue
Other 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
Primary 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 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
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