OMAVELOXOLONE for Friedreich's ataxia

Inclusion criteria

• {"criterion_text":"- For the patients with FA group: Patients with genetically confirmed FA, eligible for treatment with omaveloxolone in accordance with the current approved Summary of Product Characteristics (SmPC), both ambulatory and non-ambulatory.\n- For the healthy control group: Age- and gender-matched healthy controls without a history or clinical evidence of central or peripheral nervous system disease.\n- Both male and female participants will be included.\n- Age 18 or older.\n- Ability and will to cooperate in the study.\n- Only participants who have signed the informed consent form.\n- Males and Females of childbearing potential willing to use highly effective method of contraception (hormonal contraception, intrauterine device or sexual abstinence) during the treatment period and for at least one month after the last dose of study drug.\n- Patients should preferably be enrolled prior to initiation of omaveloxolone treatment. Patients who have already initiated omaveloxolone treatment may be included provided that: 1) a documented pre-treatment blood sample is available; 2) the date of treatment initiation is clearly recorded; 3) the pre-treatment sample was collected as part of routine clinical care or an ethically approved research protocol; 4) no study-specific procedures were performed prior to informed consent."}

Exclusion criteria

• {"criterion_text":"- Participants who did not agree to participate in the study.\n- For the patient with FA group: Hypersensitivity to omaveloxolone or any of the excipients used in Skyclarys.\n- For the healthy control group: Controls with genetic risk of FA heterozygosity or homozygosity (i.e., healthy parents or siblings of patients).\n- Participants with toxic abuse.\n- Participants with other nervous system disease potentially influencing the results (i.e. Alzheimer or Parkinson disease etc).\n- Patients with any contraindications to omaveloxolone as specified in the current approved SmPC."}

Primary endpoints

• {"endpoint_text":"- Change in mitochondrial biomarkers (lipofuscin-like pigments, PINK1, ULK1, BNIP3L, TFEB, LC3, p62, GPX4, SLC7A11, and 4-HNE) from baseline to 6 and 12 months in patients with FA treated with omaveloxolone.","definition_or_measurement_approach":"Change from baseline to 6 and 12 months in the listed mitochondrial biomarkers in patients treated with omaveloxolone. Specific assay or laboratory methods are not provided in the available record."}

Secondary endpoints

• {"endpoint_text":"- Between-group differences in mitochondrial biomarkers at the 6-month timepoint (treated FA patients vs. controls).","definition_or_measurement_approach":"Comparison of mitochondrial biomarker levels between treated FA patients and healthy controls at 6 months; specific statistical methods not specified."}
• {"endpoint_text":"- Correlation of biomarker changes with changes in mFARS, SARA, and ADL scores over time.","definition_or_measurement_approach":"Assessment of associations between changes in biomarker measurements and changes in clinical severity scores (mFARS, SARA, ADL); specific correlation methods not specified."}

Methods

• Site-based recruitment at participating hospitals and research centres (Fakultni Nemocnice V Motole in Czechia; Instytut Psychiatrii I Neurologii and Uniwersyteckie Centrum Kliniczne in Poland) via site contacts and local departments.
• Use of recruitment materials and online recruitment text (documents present: recruitment flyer, website recruitment text for Gdansk and Warsaw) as indicated in the recruitment documents list.

Czechia

Earliest CTIS Part Ii Submission Date

09-03-2026

Latest Decision Or Authorization Date

30-03-2026

Processing Time Days

21

Number Of Sites

1

Number Of Participants

55

Poland

Earliest CTIS Part Ii Submission Date

24-03-2026

Latest Decision Or Authorization Date

03-04-2026

Processing Time Days

10

Number Of Sites

2

Number Of Participants

10

Primary sponsor

Full Name

Fakultni Nemocnice V Motole

Organisation Type

Hospital/Clinic/Other health care facility

Country Of Registered Address

Czechia