Clinical trial NCT03418740: Neurology Measures in FA Children
Official title: Neurological Measures of Progression in Children With Friedrich Ataxia
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Friedreich Ataxia
Keywords: Friedreich
Ataxia
FRDA
FA
Friedrich Ataxia (FRDA)
Lead sponsor: Children's Hospital of Philadelphia
Sponsor class: OTHER
Collaborators: name: University of Florida
name: University of California, Los Angeles
name: Food and Drug Administration (FDA)
name: Friedreich's Ataxia Research Alliance
First posted: 2018-02-01
Enrollment: 108
Sex: ALL
Minimum age (years): 2
Maximum age (years): 18
Standard ages: CHILD
ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
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.

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.

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

Primary outcomes:
measure: Change in mFARS (Modified Friedreich's Ataxia Rating Scale) Score
timeFrame: Baseline up to 36 Months
Secondary outcomes:
measure: Change in Timed 25-Foot Walk (T25FW) Test
timeFrame: Baseline up to 36 Months
measure: Change in 9-Hole Peg Test (9HPT)
timeFrame: Baseline up to 36 Months
measure: Change in Timed Up and Go (TUG) Test
timeFrame: Baseline up to 36 Months
measure: Change in Berg Balance Scale (Full Length) (BBS) Score
timeFrame: Baseline up to 36 Months
measure: Change in FA-Activities of Daily Living Scale (ADL) Score
timeFrame: Baseline up to 36 Months
measure: Change in 1-minute Walk (1MW) and 6-minute Walk (6MW) Tests
timeFrame: Baseline up to 36 Months
Other outcomes:
Locations:
city: Los Angeles
country: United States
facility: University of California, Los Angeles
state: California
city: Gainesville
country: United States
facility: University of Florida
state: Florida
city: Philadelphia
country: United States
facility: Children's Hospital of Philadelphia
state: Pennsylvania
Study officials:
affiliation: Children's Hospital of Philadelphia
name: David Lynch, MD, PhD
role: PRINCIPAL_INVESTIGATOR
References: