Barth Syndrome Genetic Diseases
Conditions
Interventions
Subjects will be randomized (1:1) to subcutaneous (SC) injections of either elamipretide or placebo for up to 72 weeks of treatment by a central randomization. Trial personnel, Sponsor, CRO and trial
Sponsors
Stealth BioTherapeutics (United States)
Eligibility
Sex/Gender
Male
Age
5 Years to 100 Years
Inclusion criteria
Inclusion criteria: 1. Willing and able to provide signed informed consent form (ICF) prior to participation in any trial-related procedures. If applicable, informed consent in writing from parent(s) or legally acceptable representative(s) and, informed assent from subject (if age appropriate according to local requirements) should be provided. 2. Agrees to adhere to the trial requirements for the length of the trial. 3. Must have genetically confirmed Barth syndrome (pathogenic variant in the TAZ gene). 4. Male aged =5 years at time of the Screening Visit. 5. Left Ventricular Ejection fraction of =50% by 3D Echocardiogram at the Screening Visit. 6. Able to administer IMP or have an appropriate designee who can administer the IMP (i.e., a capable family member or a caregiver). 7. Subjects with female partners of childbearing potential must be willing to use a highly effective method of contraception (e.g., abstinence, dual method of contraception) from the date they sign the ICF until 28 days after the last dose of IMP.
Exclusion criteria
Exclusion criteria: 1. Unable to perform the 6MWT, 3TUG, or 5XSST functional tests or undergo echocardiography. 2. Any disease or medical condition that in the opinion of the Investigator would prevent the subject from successfully participating in the trial and reliably completing the assessments or might confound trial results. 3. Participation in other investigational drug or device clinical trials within 30 days or 5 half-lives (whichever is longer) of Screening; or is currently enrolled in a non-interventional
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Composite normalized score of the following three functional tests: 6MWT, 3TUG, and 5XSST at baseline and week 72 | — |
Secondary
| Measure | Time frame |
|---|---|
| 1. Functional capacity measured using the 6-Minute Walk Test (6MWT) at baseline and week 72 2. Functional mobility measured using the Triple Timed Up and Go Test (3TUG) at baseline and week 72 3. Lower limb strength and functional mobility measured using the 5 Times Sit to Stand Test (5XSST) at baseline and week 72 4. Patient disease assessment measured using the Patient Global Impression of Severity (PGI-S) at baseline and week 72 5. Clinician disease assessment measured using the Clinician Global Impression of Severity (CGI-S) at baseline and week 72 6. Knee extensor muscle strength measured by handheld dynamometry (HHD) at baseline and week 72 7. Hip flexor muscle strength measured by HHD at baseline and week 72 | — |
Countries
Australia, Canada, China, England, France, Ireland, Italy, Netherlands, United Kingdom
Contacts
Public ContactParexel CTRS
Outcome results
None listed