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Multicenter, prospective, observational natural history and outcome measure study of children and young adults with Friedreich ataxia.

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.

Inclusion criteria for participants with FA:

1. Genetic diagnosis of Friedreich Ataxia

2. Ages 4-21 years at enrollment

3. Enrollment in the UNIFAI study and ability to have simultaneous visits for both UNIFAI and EARLY-FA

4. Informed consent must be obtained for all participants:

   1. For underage participants, they and the parent/ legally authorized representative have to sign the informed consent form, child assent (if applicable)
   2. Persons who are not legally competent require the informed consent of their legally authorized representative

Inclusion criteria for control participants:

1. Ages 4-21 years at enrollment

2. Matching criteria to an enrolled participant with FA (age, sex and educational status)

3. Informed consent must be obtained for all participants:

   1. For underage participants, they and the parent/ legally authorized representative have to sign the informed consent form, child assent (if applicable)
   2. Persons who are not legally competent require the informed consent of their legally authorized representative

Exclusion criteria for participants with FA:

1. 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.
2. Pregnant female participants
3. Unable to provide informed consent.

Exclusion criteria for control participants:

1. Family risk for FA with unknown status
2. Diagnosis of a medical condition that in the opinion of the investigator could be confounding and contraindication to participation
3. Unable to provide informed consent

The study will enroll 200 individuals with FA who are 4-21 years of age and 100 healthy matched (age and sex) controls.

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.

At the conclusion of the study and after primary manuscripts have been published

Access and requests managed by the RDCA DAP platform