Cardiomyopathy, Friedreich Ataxia
Conditions
Keywords
Friedreich Ataxia, FA-CM, Cardiomyopathy, FA, Cardiac Disease
Brief summary
Characteristics and clinical course of disease In participants with cardiomyopathy associated with Friedreich Ataxia (CLARITY-FA)
Detailed description
Study LX2006-02 is a prospective, longitudinal, low-intervention, multicenter, global study aimed at characterizing the nature and rate of cardiac disease progression in participants with genetically confirmed FA.
Interventions
None listed
Sponsors
Lexeo Therapeutics
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
6 Years to No maximum
Healthy volunteers
No
Inclusion criteria
* Male or female, ages ≥6 years at the time of signing the informed consent (and assent, if applicable). * Diagnosis of FA, based on clinical phenotype and genotype (GAA expansion on both alleles or compound heterozygous), with onset of FA occurring at ≤25 years of age * Confirmed left ventricular hypertrophy (LVH) * Left ventricular ejection fraction ≥30%
Exclusion criteria
* Presence of other form(s) of CM contributing to heart failure (HF), clinically significant cardiac anatomic abnormality or congenital cardiac malformation, clinically significant coronary artery, uncorrected, hemodynamically significant primary structural valvular disease not due to CM * Currently receiving intermittent or continuous intravenous (IV) inotrope infusion, presence of a ventricular assist device, or history of prior heart transplantation * Contraindication to cMRI, participants \<12 years of age who cannot complete the cMRI without sedation will instead undergo ECHOs and are exempt from this criterion. * Prior organ transplantation * Initiation of cardiac resynchronization therapy (CRT) within 6 months prior to screening. * History of prior gene transfer or cell therapy. * Poorly controlled diabetes (hemoglobin A1c ≥8%) * Active hematologic or solid organ malignancy
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Characterize cardiac disease presentation and progression among participants | 52 weeks | Change from baseline in left ventricular mass index (LVMi) |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Describe progression of maximal wall thickness (MWT) among this population | 52 weeks | Change from baseline |
| Describe progression of high sensitivity troponin I among this population | 52 weeks | Change from baseline |
| Describe participant perception and clinician assessment of illness in Kansas City Cardiomyopathy Questionnaire-12 (KCCQ-12) | 52 weeks | Change from baseline |
| Describe clinician assessment of illness in modified Friedreich Ataxia Rating Scale (mFARS) | 52 weeks | Change from baseline |
| Describe participant perception of illness in Patient Global Impression of Severity (PGI-S) | 52 weeks | Change from baseline |
| Describe participant perception of illness in Patient Global Impression of Change (PGI-C) | 52 weeks | Change from baseline |
| Describe patterns of concomitant medication use among this population | 52 weeks | Change from baseline in concomitant medication use, assessed using medication logs, electronic health records and patient self-report. |
| Describe changes to medication use among this population | 52 weeks | Change from baseline in medication use, evaluated using prescription records, patient-reported medication, or clinician-reported changes. |
| Evaluate cardiovascular (CV) events | 52 weeks | Number of CV events defined as death due to any cause plus adjudicated events of hospitalization for heart failure, non-fatal stroke, non-fatal myocardial infarction, non-fatal life-threatening arrhythmia, heart transplant, implantation of left ventricular assisted device (LVAD) |
| Cumulative measure of CV and non-CV related health care utilization (HRU) | 52 Weeks | Health care utilization will be assessed through a combination of: * Data captured via Electronic Data Capture (EDC) system (e.g., hospitalizations, emergency room visits, procedures), * Patient-reported information collected by the physician during scheduled study visits. |
Countries
Brazil, Canada, Czechia, France, Germany, Italy, Spain, United States
Contacts
CONTACTLexeo Clinical Trials
STUDY_DIRECTORLexeo Clinical Trials
Lexeo Therapeutics
Outcome results
None listed