A Trial to Evaluate Safety, Tolerability and Efficacy of Elamipretide in Subjects With Barth Syndrome

Study Overview
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Brief Summary
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A randomized double-blind cross over trial to evaluate the safety, efficacy and tolerability of elamipretide in subjects with Barth Syndrome.

Official Title
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A Phase 2 Randomized, Double-Blind, Placebo-Controlled Crossover Trial to Evaluate the Safety, Tolerability, and Efficacy of Subcutaneous Injections of Elamipretide (MTP-131) in Subjects With Genetically Confirmed Barth Syndrome Followed by an Open-Label Treatment Extension

Conditions
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Barth Syndrome

Intervention / Treatment
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* Drug: Elamipretide


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Genetically confirmed Barth Syndrome Male aged 12 and above At the screening visit, eGFR must meet the following: Body weight >30 kg AND eGFR > 90mL/min at screening Body weight >40kg AND eGFR >60 but <90mL/min at screening Ambulatory and impaired during the 6MWT On stable medication for 30 days prior to the baseline visit Exclusion Criteria: Participated in another interventional clinical trial within 30 days of or is currently enrolled in a non-interventional clinical trial at the baseline visit potentially confounding with this trial Prior or current medical condition that would prevent the subject from safely participating in the trial Undergone any inpatient hospitalizations within 30 days of the baseline visit Is undergoing an apparent pubertal growth spurt Has uncontrolled hypertension History of substance abused within the year before the baseline visit or is likely to be uncompliant History of heart transplantation or current placement on the waiting list for a heart transplant For subjects with an ICD: known occurrance of ICD discharge in the 3 months prior to the baseline visit For subjects without an ICD: expected to undergo an implantation of an ICD during the conduct of the study Currently receiving treatment with chemotherapeutic agents or immunosuppressant agents or has received prior radiation therapy to the chest Recipient of stem cell or gene therapy or is currently being treated by a therapeutic investigational device

Ages Eligible for Study
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Minimum Age: 12 Years

Sexes Eligible for Study
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Male

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Design Details

Primary Purpose: Treatment
Allocation: Randomized
Intervention Model: Crossover Assignment
Interventional Model Description: 28 wks, double-blinded cross over followed by 168 wks open label long term safety & tolerability trial.
Masking: Quadruple


Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Experimental: Experimental: Elamipretide<br>Patients will be randomized to receive 12 weeks of elamipretide in one of the two treatment periods. All subjects will receive 12 weeks of elamipretide and 12 weeks of placebo. | Drug: Elamipretide<br>* 40 mg daily subcutaneous injection for 12 weeks<br>* Other names: MTP-131;|
| Placebo Comparator: Placebo<br>Patients will be randomized to receive 12 weeks of placebo in one of the two treatment periods. All subjects will receive 12 weeks of placebo and 12 weeks of elamipretide. | Drug: Elamipretide<br>* 40 mg daily subcutaneous injection for 12 weeks<br>* Other names: MTP-131;|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Change in distance walked during the 6-minute walk test (6MWT) |  | 12 weeks | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Change in muscle strength as measured by handheld dynamometry |  | 12 weeks | 
| Change in five times sit-to-stand test |  | 12 weeks | 
| Change in 2-D and 3-D echocardiographic measurements |  | 12 weeks | 
| Change in accelerometry counts |  | 12 weeks | 
| Change in SWAY application balance assessments |  | 12 weeks | 
| Change in Patient Reported Outcomes |  | 12 weeks | 
| Change in Clinician Global Impression |  | 12 weeks | 
| Change in biomarkers |  | 12 weeks | 
| Number of participants with treatment related adverse events |  | 12 weeks | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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MTP-131, Stealth, Barth Syndrome, elamipretide, Stealth BT, BTHS