Neurology Measures in FA Children

Children's Hospital of Philadelphia (CHOP)

Status: Completed

Conditions: Friedreich Ataxia

Study type: Observational

Funder types: Other

Identifiers

NCT03418740

17-014390

FD006029-01 (Other Grant/Funding Number)

Details and patient eligibility

About

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).

Full 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.

Enrollment: 108 patients

Sex: All

Ages: 2 to 18 years old

Volunteers: No Healthy Volunteers

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

Trial design

108 participants in 1 patient group

FA Children

Description:

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