Multiorgan complexity in Friedreich Ataxia

Recruitment & Eligibility

Status: Recruiting

Sex: All

Target Recruitment: 150

Inclusion Criteria

Participants with Friedreich ataxia will be recruited to the study if they meet the following inclusion criteria:
-genetically confirmed diagnosis of Friedreich ataxia
-written informed consent provided
For underage patients who are eligible for the study because of an early disease onset, they and the parent/ legal guardian must sign the informed consent form.
Persons who are not legally competent require the informed consent of their legal guardian.

Healthy controls will be recruited to the study if they meet the following inclusion criteria:
-written informed consent provided
Controls may be family members or recruited elsewhere, heterozygous GAA expansion carriers are allowed
For underage controls who are eligible for the study they and the parent/ legal guardian must sign the informed consent form

Exclusion Criteria

Participants with Friedreich ataxia will be excluded from participating in the study if they meet any of the following criteria:
-not legally competent and no parent/ guardian to provide written informed consent
-no genetically confirmed diagnosis of Friedreich ataxia
-acute or ongoing medical or other conditions that would interfere with the conduct and assessments of the study

Controls will be excluded from participating in the study if they meet any of the following criteria:
-unable to provide written informed consent
-diagnosed with a relevant ongoing psychiatric or neurological condition
-acute or ongoing medical or other conditions that would interfere with the conduct and assessments of the study
-Pregnancy

For participants who will undergo MRI (optional): Any contraindications to MRI such as, but not limited to cardiac pacemaker, implanted cardiac defibrillator, aneurysm clips, carotid artery vascular clamp, neurostimulator, implanted drug infusion devices, metal fragments or foreign objects in the eyes, skin or body, bone growth/fusion stimulator, cochlear, otologic implant, severe claustrophobia or any condition that would counter indicate an MRI scan.

For participants undergoing spinal and/or kinematic analysis the following exclusion criteria apply: implanted pacemaker, severe obesity (BMI > 35) or pregnancy

For participants undergoing an adipose tissue biopsy the following exclusion criteria apply: pregnancy, use of anticoagulants or antiplatelet therapy (except monotherapy with low-dose Aspirin), hypersensitivity to local anesthesia, or a skin rash of the abdominal region