Neurology Measures in FA Children

NCT03418740 | Completed Results

• 2 other identifiers: 17-014390FD006029-01
• Study Type: observational
• Target: 108
• Locations: 1 country
• Sites: 3

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).

Conditions

Friedreich Ataxia

Keywords

Friedreich; Ataxia; FRDA; FA; Friedrich Ataxia (FRDA)

Outcome Measures

Primary Outcomes (1)

• Change in mFARS (Modified Friedreich's Ataxia Rating Scale) Score

  The Friedreich Ataxia Rating Scale (FARS) measures neurological function in FA. It is a composite measure reflecting neural substrates with five-subscales (sections A to E), measuring bulbar function, upper limb coordination, lower limb coordination, peripheral nerves, and upright stability. The modified FARS (mFARS) shortens the bulbar subscale to 2 items and excludes the peripheral nerve subscale. Total scoring is a summation of subscales, with a maximum score of 93 points for mFARS and 125 for FARS. The mFARS score ranges for each subscale are: Bulbar: 0 - 5, Upper Limb: 0 - 36, Lower Limb: 0 - 16, Upright Stability: 0 - 36. The overall change in mFARS and its sub scores across 3 years was the outcome measure analyzed at 0, 1, 2, and 3 year visits. Each subsection has a minimum score of 0, indicating minimal effect for that component. Maximum values per section vary based on the tasks performed in each subsection; a higher score indicates greater dysfunction on that component.

  Baseline up to 36 Months

Secondary Outcomes (6)

• Change in Timed 25-Foot Walk (T25FW) Test

  Baseline up to 36 Months

• Change in 9-Hole Peg Test (9HPT)

  Baseline up to 36 Months

• Change in Timed Up and Go (TUG) Test

  Baseline up to 36 Months

• Change in Berg Balance Scale (Full Length) (BBS) Score

  Baseline up to 36 Months

• Change in FA-Activities of Daily Living Scale (ADL) Score

  Baseline up to 36 Months

Study Arms (1)

FA Children

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

Eligibility Criteria

• Age: 2 Years - 18 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)
• 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.

You may qualify if:

• Males or females age 2 to 18 years.
• Genetically confirmed diagnosis of Friedreich's Ataxia (FA) or clinically confirmed diagnosis of FA, pending confirmatory genetic testing through a commercial or research laboratory
• Parental/guardian permission (informed consent) and if appropriate, child assent.

You may not qualify if:

• \) Inability to complete study evaluations

Sponsors & Collaborators

• Children's Hospital of Philadelphia: lead
• University of Florida: collaborator
• University of California, Los Angeles: collaborator
• Food and Drug Administration (FDA): collaborator
• Friedreich's Ataxia Research Alliance: collaborator

Study Sites (3)

University of California, Los Angeles

Los Angeles, California, 90095, United States

Location

University of Florida

Gainesville, Florida, 32611, United States

Location

Children's Hospital of Philadelphia

Philadelphia, Pennsylvania, 19104, United States

Location

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.

MeSH Terms

Conditions

Friedreich Ataxia; Ataxia

Condition Hierarchy (Ancestors)

Spinocerebellar Degenerations; Cerebellar Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Spinal Cord Diseases; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Mitochondrial Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases; Dyskinesias; Neurologic Manifestations; Signs and Symptoms; Pathological Conditions, Signs and Symptoms

Limitations and Caveats

Potential training effects of the repeated outcome measures as well as placebo effects might have increased variability. Varying demographic and genetic factors such as the presence of point mutations, GAA1 repeat length, age of onset and age at baseline also contribute to variability and may impact the rates of change over time. The COVID-19 epidemic also contributed to intermittent loss of data, and supplementing with virtual visits had limited value.

Results Point of Contact

• Title: Dr. David Lynch
• Organization: The Children's Hospital of Philadelphia

lynchd@pennmedicine.upenn.edu

215-590-2242

Study Officials

• David Lynch, MD, PhD

  Children's Hospital of Philadelphia

  PRINCIPAL INVESTIGATOR

Publication Agreements

• PI is Sponsor Employee: No
• Restrictive Agreement: No

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Target Duration: 3 Years
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: January 26, 2018
• First Posted: February 1, 2018
• Study Start: November 20, 2017
• Primary Completion: February 2, 2023
• Study Completion: February 2, 2023
• Last Updated: January 16, 2025
• Results First Posted: January 16, 2025

Record last verified: 2025-01

Locations

US (3)