Friedreich AtaxiaEARLY-FANCT06560346
Understanding the Natural History Early in the Course or Presentation of Friedreich Ataxia
An observational study of Friedreich Ataxia and Rare Diseases, run by Friedreich's Ataxia Research Alliance at 7 sites in 5 countries.
Trial summary
Multicenter, prospective, observational natural history and outcome measure study of children and young adults with Friedreich ataxia. Read more about this study
- Who is it for?
- Ages 4 to 21 yearsHealthy volunteers can take part
- Conditions the study is for
- Friedreich Ataxia, Rare Diseases
- What is being tested?
- Geneticlly confirmed disease causing FXN mutatuion
- How many people
- 0 participants
- Where
- 7 sitesin 5 countries
- Study dates
- 1 May 2025to 1 Dec 2028
- How long will I take part?
- 2 Years
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 4 to 21 years
- All sexes
- Healthy volunteers accepted
- Child, Adult
Study population: The study will enroll 200 individuals with FA who are 4-21 years of age and 100 healthy matched (age and sex) controls.
Who may be able to join
- 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
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- 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
Who cannot join
- 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
Trial locations and contacts
7 sites in 5 countries.
7 sites in 5 countries
United States3 sites
University of Iowa, Stead Family Children's Hospital
Iowa City, Iowa, 52242
St. Jude Children's Research Hospital
Memphis, Tennessee, 38105
Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, 19104
Australia1 site
Murdoch Childrens Research Institute
Parkville, Victoria, 3052
Canada1 site
McGill University Health Centre - Montreal Neurological Institute
Montreal, Quebec, H9R 2Y2
Italy1 site
Bambino Gesù Children's Hospital, Department of Neurosciences
Roma, 00146
About this study
Official title: Understanding the Natural History Early in the Course or Presentation of Friedreich Ataxia (EARLY-FA); Evaluating New Clinical Outcome Assessments in Children With Friedreich Ataxia to Facilitate Clinical Trial Design.
Multicenter, prospective, observational natural history and outcome measure study of children and young adults with Friedreich ataxia.
Read the detailed description
A multicenter, prospective, observational natural history and outcome measure study of children and young adults with Friedreich ataxia to further understand the disease features and progression and inform and enable future clinical trials in children with FA.
The study, Understanding the natural history early in the presentation of Friedreich ataxia: evaluating new clinical outcome assessments in children with Friedreich ataxia to facilitate clinical trial design (EARLY-FA), evaluates disease features specific to children and novel biomarkers and outcome measures which leveraging existing clinical research infrastructure and data collection from an established natural history study, UNIFAI.
- Conditions
- Friedreich Ataxia, Rare Diseases
- Being tested
- Geneticlly confirmed disease causing FXN mutatuion, Healthy Control
- Medical subject headings
- Friedreich Ataxia, Rare Diseases
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Geneticlly confirmed disease causing FXN mutatuionOther
No intervention in this observational Natural History Study
Healthy ControlOther
No intervention in this observational Natural History Study
| Study group | Role | What they receive |
|---|---|---|
| FRDA, genetically confirmed | individuals with FRDA, genetically confirmed, aged 4-21yrs Receives: Other: Geneticlly confirmed disease causing FXN mutatuion | |
| 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) Receives: Other: Healthy Control |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: Baseline, 12 months, and 24 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted19 Aug 2024
- Study start1 May 2025 (estimated)
- Primary completion1 Dec 2028 (estimated)
- Study completion1 Dec 2028 (estimated)
Why it stopped: Lack of Funding
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Friedreich AtaxiaStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case-control
- Time perspective
- Prospective
- Enrolment
- 0 participants (actual)
- Target duration
- 2 Years
Sponsor and investigators
- Lead sponsor
- Friedreich's Ataxia Research Alliance
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Jennifer Farmer, Study director, Friedreich's Ataxia Research Alliance
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06560346
- Sponsor's protocol ID
- 2024-025
- Acronym
- EARLY-FA
- Status last verified
- Jun 2025
- First submitted
- 15 Aug 2024
- Last updated
- 8 Jun 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Yes: 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.
Study at a glance
From the registry record, last updated by the sponsor on 8 Jun 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Understanding the Natural History Early in the Course or Presentation of Friedreich Ataxia (EARLY-FA); Evaluating New Clinical Outcome Assessments in Children With Friedreich Ataxia to Facilitate Clinical Trial Design.
- ClinicalTrials.gov ID
- NCT06560346
- Acronym / sponsor ID
- EARLY-FA / 2024-025
- Conditions
- Friedreich Ataxia, Rare Diseases
- Study type
- Observational
- Recruitment status
- WithdrawnReason stopped: Lack of Funding
- Enrolment
- 0 participants (actual)
- Lead sponsor
- Friedreich's Ataxia Research AllianceUniversity, hospital or other
- Study start
- 1 May 2025 (estimated)
- Primary completion
- 1 Dec 2028 (estimated)
- Study completion
- 1 Dec 2028 (estimated)
- First posted
- 19 Aug 2024 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
Multicenter, prospective, observational natural history and outcome measure study of children and young adults with Friedreich ataxia.
Detailed description
A multicenter, prospective, observational natural history and outcome measure study of children and young adults with Friedreich ataxia to further understand the disease features and progression and inform and enable future clinical trials in children with FA.
The study, Understanding the natural history early in the presentation of Friedreich ataxia: evaluating new clinical outcome assessments in children with Friedreich ataxia to facilitate clinical trial design (EARLY-FA), evaluates disease features specific to children and novel biomarkers and outcome measures which leveraging existing clinical research infrastructure and data collection from an established natural history study, UNIFAI.
Study design
- Observational model
- Case-control
- Time perspective
- Prospective
- Target follow-up
- 2 Years
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| FRDA, genetically confirmed | – | Other: Geneticlly confirmed disease causing FXN mutatuionindividuals with FRDA, genetically confirmed, aged 4-21yrs |
| Matched healthy controls | – | Other: Healthy ControlParticipants 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) |
Who may qualify
- Ages
- 4 to 21 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult
- Study population
- The study will enroll 200 individuals with FA who are 4-21 years of age and 100 healthy matched (age and sex) controls.
Key inclusion criteria (11 listed)
- 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:
- Ages 4-21 years at enrollment
Key exclusion criteria (6 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Geneticlly confirmed disease causing FXN mutatuionNo intervention in this observational Natural History Study | Other | FRDA, genetically confirmed |
| Healthy ControlNo intervention in this observational Natural History Study | Other | Matched healthy controls |
Primary outcome
Correlation between growth (height in z-score) and disease severity in FRDA (mFARS score)
Time frame: Baseline, 12 months, and 24 months
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.
Results and safety
The study was withdrawn before enrolling participants, so there are no results.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 8 Jun 2025.
- Individual participant dataSharing planned: Yes. 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.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Jennifer Farmer study director
Friedreich's Ataxia Research Alliance
7 sites in 5 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Friedreich Ataxia and Rare Diseases, run by Friedreich's Ataxia Research Alliance at 7 sites in 5 countries.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 11 inclusion and 6 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: withdrawn, as of the sponsor's last update on 8 Jun 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 7 sites in United States, Australia, Canada, Germany, Italy. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study was withdrawn before enrolling participants, so there are no results.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Correlation between growth (height in z-score) and disease severity in FRDA (mFARS score) (time frame: Baseline, 12 months, and 24 months). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 8 Jun 2025.