Study Stopped
Lack of Funding
Understanding the Natural History Early in the Course or Presentation of Friedreich Ataxia
EARLY-FA
1 other identifier
observational
N/A
5 countries
7
Brief Summary
Multicenter, prospective, observational natural history and outcome measure study of children and young adults with Friedreich ataxia.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
Started May 2025
Typical duration for all trials
7 active sites
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
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Study Timeline
Key milestones and dates
First Submitted
Initial submission to the registry
August 15, 2024
CompletedFirst Posted
Study publicly available on registry
August 19, 2024
CompletedStudy Start
First participant enrolled
May 1, 2025
CompletedPrimary Completion
Last participant's last visit for primary outcome
December 1, 2028
ExpectedStudy Completion
Last participant's last visit for all outcomes
December 1, 2028
June 8, 2025
June 1, 2025
3.6 years
August 15, 2024
June 4, 2025
Conditions
Outcome Measures
Primary Outcomes (1)
Correlation between growth (height in z-score) and disease severity in FRDA (mFARS score)
Height (cm) will be measured using a wall-mounted stadiometer and univariate analyses will test for Correlation between the height Z-score (after accounting for genetic potential (mid-parental height)) and disease severity (using the standard ataxia scale modified Friedreichs ataxia rating scale (mFARS)). The modified Friedreich Ataxia Rating Scale (mFARS) is a disease-specific scale that measures progression of neurological effects of FA. The mFARS is a validated and reliable scale; comprised of the neurologic component of the FARS and evaluates bulbar, upper limb, lower limb, and upright stability/gait function. For each item, responses categorize the corresponding neurological finding, and the findings are assigned a score ranging from 0 to 3, 4, or 5 with 0 being normal and higher numbers indicative of greater impairment. The score ranges from 0 to 93. The score will be compared to the previous year annually for up to 25 years.
Baseline, 12 months, and 24 months
Study Arms (2)
FRDA, genetically confirmed
individuals with FRDA, genetically confirmed, aged 4-21yrs
Matched healthy controls
Participants in the control group (Group 2) will be aged 4-21 years at enrollment and fulfill group matching criteria to an enrolled participant with FRDA (age, sex)
Interventions
No intervention in this observational Natural History Study
No intervention in this observational Natural History Study
Eligibility Criteria
The study will enroll 200 individuals with FA who are 4-21 years of age and 100 healthy matched (age and sex) controls.
You may qualify if:
- Genetic diagnosis of Friedreich Ataxia
- Ages 4-21 years at enrollment
- Enrollment in the UNIFAI study and ability to have simultaneous visits for both UNIFAI and EARLY-FA
- Informed consent must be obtained for all participants:
- For underage participants, they and the parent/ legally authorized representative have to sign the informed consent form, child assent (if applicable)
- Persons who are not legally competent require the informed consent of their legally authorized representative
- Ages 4-21 years at enrollment
- Matching criteria to an enrolled participant with FA (age, sex and educational status)
- Informed consent must be obtained for all participants:
- For underage participants, they and the parent/ legally authorized representative have to sign the informed consent form, child assent (if applicable)
- Persons who are not legally competent require the informed consent of their legally authorized representative
You may not qualify if:
- Diagnosis of non-FA medical or other condition that in the opinion of the investigator would interfere with the conduct and assessments of the study or be confounding and contraindication to participation.
- Pregnant female participants
- Unable to provide informed consent.
- Family risk for FA with unknown status
- Diagnosis of a medical condition that in the opinion of the investigator could be confounding and contraindication to participation
- Unable to provide informed consent
Contact the study team to confirm eligibility.
Sponsors & Collaborators
Study Sites (7)
University of Iowa, Stead Family Children's Hospital
Iowa City, Iowa, 52242, United States
Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, 19104, United States
St. Jude Children's Research Hospital
Memphis, Tennessee, 38105, United States
Murdoch Childrens Research Institute
Parkville, Victoria, 3052, Australia
McGill University Health Centre - Montreal Neurological Institute
Montreal, Quebec, H9R 2Y2, Canada
University Hospital Aachen, Dept. of Neurology
Aachen, 52074, Germany
Bambino Gesù Children's Hospital, Department of Neurosciences
Roma, 00146, Italy
Biospecimen
Whole blood and plasma will be collected to assess frataxin and lipids in FRDA patients and controls.
MeSH Terms
Conditions
Condition Hierarchy (Ancestors)
Study Officials
- STUDY DIRECTOR
Jennifer Farmer
Friedreich's Ataxia Research Alliance
Study Design
- Study Type
- observational
- Observational Model
- CASE CONTROL
- Time Perspective
- PROSPECTIVE
- Target Duration
- 2 Years
- Sponsor Type
- OTHER
- Responsible Party
- SPONSOR
Study Record Dates
First Submitted
August 15, 2024
First Posted
August 19, 2024
Study Start
May 1, 2025
Primary Completion (Estimated)
December 1, 2028
Study Completion (Estimated)
December 1, 2028
Last Updated
June 8, 2025
Record last verified: 2025-06
Data Sharing
- IPD Sharing
- Will share
- Shared Documents
- STUDY PROTOCOL
- Time Frame
- At the conclusion of the study and after primary manuscripts have been published
- Access Criteria
- Access and requests managed by the RDCA DAP platform
All such study data will be made available to all study investigators after it has been generated, per the policies outlined in the study agreements and for analysis. The sponsor plans to make de-identified data available to third parties at the conclusion of the study and after primary manuscripts have been published, including depositing data in a secure platform. All de-identified dataset(s) that can be shared will be deposited in the Rare Disease Cures Accelerator Data and Analytics Platform (RDCA-DAP) hosted and managed by the Critical Path Institute (C-Path). RDCA-DAP is an FDA-funded initiative that provides a centralized and standardized infrastructure to support and accelerate rare disease characterization with the goal of accelerating therapy development. Each site will be required to ensure that participants are consented in such a way that allows the sharing of de-identified data with the community in this manner.