Neurology Measures in FA Children

Friedreich Ataxia Clinical Trial

Official title:

Neurological Measures of Progression in Children With Friedrich Ataxia

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT03418740
• Other study ID #: 17-014390
• Secondary ID: FD006029-01
• Status: Completed
• 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
• 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

Related Conditions & MeSH terms

• Ataxia
• Cerebellar Ataxia
• Friedreich Ataxia

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