Understanding the Natural History Early in the Course or Presentation of Friedreich Ataxia (EARLY-FA)

Friedreich's Ataxia Research Alliance

Status: Withdrawn

Conditions: Rare Diseases; Friedreich Ataxia

Treatments: Other: Geneticlly confirmed disease causing FXN mutatuion; Other: Healthy Control

Study type: Observational

Funder types: Other

Identifiers

NCT06560346

2024-025

Details and patient eligibility

About

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

Full 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.

Sex: All

Ages: 4 to 21 years old

Volunteers: Accepts Healthy Volunteers

Inclusion and exclusion criteria

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

Trial design

0 participants in 2 patient groups

FRDA, genetically confirmed

Description:

individuals with FRDA, genetically confirmed, aged 4-21yrs

Treatment:

Other: Geneticlly confirmed disease causing FXN mutatuion

Matched healthy controls

Description:

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)

Treatment:

Other: Healthy Control