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

Phase 2
Completed
Conditions
Barth Syndrome
Interventions
Drug: Placebo
Registration Number
NCT03098797
Lead Sponsor
Stealth BioTherapeutics Inc.
Brief Summary

A randomized, double-blind cross over trial to evaluate the safety, efficacy, and tolerability of elamipretide in subjects with Barth syndrome.

Detailed Description

A phase 2 randomized, double-blind, placebo-controlled crossover trial to evaluate the safety, tolerability, and efficacy of subcutaneous injections of elamipretide in subjects with genetically confirmed Barth syndrome followed by open-label treatment extension. Part 1 was a randomized, double-blind, placebo-controlled, crossover trial to assess safety, tolerability, and efficacy single daily subcutaneous (SC) doses of 40 mg elamipretide administered for 12 weeks in subjects with Barth syndrome. Part 2: This was an open-label extension trial to assess the long-term safety, tolerability, and longitudinal trends in efficacy single daily SC doses of 40 mg elamipretide for up to 192 weeks.

Recruitment & Eligibility

Status
COMPLETED
Sex
Male
Target Recruitment
12
Inclusion Criteria
  • Genetically confirmed Barth Syndrome

  • Male aged 12 and above

  • At the screening visit, eGFR must meet the following:

    1. Body weight >30 kg AND eGFR ≥ 90mL/min at screening
    2. Body weight >40kg AND eGFR ≥60 but <90mL/min/ 1.73m² at screening
  • Ambulatory and impaired during the baseline 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 occurrence 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

Study & Design

Study Type
INTERVENTIONAL
Study Design
CROSSOVER
Arm && Interventions
GroupInterventionDescription
Elamipretide, then PlaceboPlaceboExperimental Part 1: 12 weeks of single daily SC doses of 40 mg elamipretide in Treatment Period 1 followed by 12 weeks of treatment with placebo in Treatment Period 2 (separated by a 4 week washout period). Experimental Open Label Extension Part 2: All subjects will receive Elamipretide 40mg SC daily injections for up to 168 weeks
Placebo , then ElamipretidePlaceboPlacebo Comparator Part 1: 12 weeks of single daily SC doses of placebo in Treatment Period 1 followed by 12 weeks of treatment with 40 mg elamipretide in Treatment Period 2 (separated by a 4 week washout period). Placebo Comparator Open Label Extension Part 2: All subjects will receive Elamipretide 40mg SC daily injections for up to 168 weeks
Elamipretide, then PlaceboElamipretideExperimental Part 1: 12 weeks of single daily SC doses of 40 mg elamipretide in Treatment Period 1 followed by 12 weeks of treatment with placebo in Treatment Period 2 (separated by a 4 week washout period). Experimental Open Label Extension Part 2: All subjects will receive Elamipretide 40mg SC daily injections for up to 168 weeks
Placebo , then ElamipretideElamipretidePlacebo Comparator Part 1: 12 weeks of single daily SC doses of placebo in Treatment Period 1 followed by 12 weeks of treatment with 40 mg elamipretide in Treatment Period 2 (separated by a 4 week washout period). Placebo Comparator Open Label Extension Part 2: All subjects will receive Elamipretide 40mg SC daily injections for up to 168 weeks
Primary Outcome Measures
NameTimeMethod
Part 1: Distance Walked During the 6-Minute Walk Test (6MWT) by VisitPre-dose to Week 12 (end of treatment)

Average distance walked in meters during the 6-minute walk test (6MWT) at end of treatment, where end of treatment means end of Visit 5 (Week 12) for Period 1 and end of Visit 10 (Week 12) for Period 2. Results were pooled for each 12 week period.

Part 1: Total Fatigue Score Based on the BTHS-SA by Visit.Pre-dose, Weeks 1, 4, 8, and 12 (end of treatment)

Total Fatigue Score (Q1, Q2, and Q4) Based on the BarTH Syndrome Symptom Assessment (BTHS-SA) by visit at predose, Weeks 1, 4, 8, and 12 (end of treatment). The BTHS-SA is 3-question fatigue assessment using a 0 to 4-point scale for each question where no fatigue =0 and very severe fatigue =4, with scores from all 3 questions combined and averaged for all subjects; a lower score means better outcome, higher score means a worse outcome. Combined Min score=0, max score =12. Weekly values are based on the weekly average of the last 7 days before the site or visiting nurse visit for both periods. Results from each 12-week period were combined, where end of treatment for Period 1 =Visit 5 (week 12), and End of Period 2 = Visit 10 (week 12)

Secondary Outcome Measures
NameTimeMethod
Part 1: Muscle Strength as Measured by HHD by VisitPre-dose to Week 12 (end of treatment)

Muscle strength as measured by handheld dynamometry (HHD) in Newtons, where end of treatment means end of Visit 5 (Week 12) for Period 1 and end of Visit 10 (Week 12) for Period 2. Results were pooled for each 12 week period. Handheld dynamometry assesses the average strength of the knee extensors of both legs.

Part 1: Patient Global Impression Scales of SymptomsPre-dose, Week 1, Week 12 (end of treatment)

Patient-reported health status over the past week, by visit, where end of treatment means end of Visit 5 (Week 12) for Period 1 and end of Visit 10 (Week 12) for Period 2. Results were pooled for each 12 week period. Scores range from 0-40 for adolescents and 0-50 for adults. PGI Scale is as follows: 0=None, 1=Mild, 2=Moderate, 3=Severe, and 4=Very Severe. Higher score means worse health status, means worse outcome; lower score means better health status, means better outcome.

Part 2: Distance Walked During the 6MWTBaseline to Weeks 12, 24, 36, 48, 72, 96, 168, 192

Change from baseline for distance walked in meters during the 6-minute walk test (6MWT) by visit where Baseline= Part 1 Period 1 Pre-dose

Part 2: Change From Baseline: Muscle Strength by HHD (Newtons) by VisitBaseline to Weeks 12, 24, 36, 48, 72, 96,168, 192

Muscle strength as measured by handheld dynamometry (HHD) in Newtons. Handheld dynamometry assesses the average strength of the knee extensors of both legs. Change from baseline where Baseline= Part 1 Period 1 Pre-dose: the greater positive change, the better the outcome, the smaller positive change (or negative change) the number the worse the outcome.

Part 2: Change From Baseline: CGI Symptom ScaleBaseline to Weeks 12, 24, 36, 48, 72, 96, 120, 144, 168, 192

Change from Baseline: CGI Symptom Scale by visit where Baseline= Part 1 Period 1 Pre-dose. Clinician Global Impression Scale: Clinician-reported overall health status at end of treatment, administered at Week 12 for Period 1 and Period 2. Scores range from 0-6 for both adolescents and adults. PGI Scale is as follows: 1= Very much Better, 2= Moderately Better, 3= A Little Better, 4= No Change, and 5= A Little Worse 6= Very much Worse. Change from baseline: higher score means worse health status, means worse outcome; lower score means better health status, means better outcome.

Part 2: Change From Baseline: Total Fatigue Score (Q1, Q2, and Q4) Based on the BTHS-SA by VisitBaseline to Weeks 12, 24, 36, 48, 72, 96, 120, 144, 168, 192

Change from Baseline (mean) in Total Fatigue Score (Q1, Q2, and Q4) Based on the BarTH Syndrome Symptom Assessment (BTHS-SA) by visit. The BTHS-SA is 3-question fatigue assessment using a 0-4 point scale for each question where no fatigue =0 and very severe fatigue =4, with scores from all 3 questions combined and averaged for all subjects by visit; a lower score means better outcome, higher score means a worse outcome. Change from baseline: an increase in scores would mean worse outcome, a decrease in scores means better outcome. Combined Min score=-12, max score =12. Weekly values are based on the weekly average of the last 7 days before the site or visiting nurse visit for both periods. Baseline= Period 1 Predose.

Part 2: Change From Baseline: 5X Sit to Stand by VisitBaseline to Weeks 12, 24, 36, 48, 72, 96, 168, 192

Change in baseline in time (in seconds), where Baseline= Part 1 Period 1 Pre-dose to complete the Five Times Sit-To-Stand by visit. More time means worse outcome, less time means better outcome.

Part 1: 5XSST by VisitPre-dose to Week 12 (end of treatment)

Time (in seconds) to complete the Five Times Sit-To-Stand, where end of treatment means end of Visit 5 (Week 12) for Period 1 and end of Visit 10 (Week 12) for Period 2. Results were pooled for each 12 week period.

Part 1: SWAY Application Balance Assessments by VisitPre-dose to Week 12 (end of treatment)

SWAY application balance assessment consists of five stances each performed for 10 seconds and scores postural stability on a scale from 0-100 with higher scores indicating better postural stability from Pre-dose to Week 12 (end of treatment), where end of treatment means end of Visit 5 (Week 12) for Period 1 and end of Visit 10 (Week 12) for Period 2. Results were pooled for each 12 week period.

Part 2: Change From Baseline: SWAY Application Balance AssessmentBaseline to Weeks 12, 24, 36, 48, 72, 96,168, 192

Change from Baseline: SWAY Application Balance Assessment,where Baseline= Part 1 Period 1 Pre-doseSWAY application balance assessment consists of five stances each performed for 10 seconds and scores postural stability on a scale from 0-100 with higher scores indicating better postural stability. An increase from baseline is a better outcome and a decrease in score is a worse outcome.

Part 2: Change From Baseline: Patient Global Impression Scales of Symptoms by VisitBaseline to Weeks 12, 24, 36, 48, 72, 96, 120, 144, 168, 192

Part 2: Change from Baseline: Patient Global Impression Scales of Symptoms by Visit Patient-reported health status over the past week where Baseline= Part 1 Period 1 Pre-dose, administered at Week 12 for Period 1 and Period 2. Scores range from 0-40 for adolescents and 0-50 for adults. PGI Scale is as follows: 1=None, 2=Mild, 3=Moderate, 4=Severe, and 5=Very Severe. Change from baseline: Higher score means worse health status, means worse outcome; lower score means better health status, means better outcome.

Part 1: Part 1: Clinician Global ImpressionPre-dose to Week 12 (end of treatment)

Clinician Global Impression Scale by visit: Clinician-reported overall health status at end of treatment, administered at Week 12 for Period 1 and Period 2. Scores range from 0-6 for both adolescents and adults. PGI Scale is as follows: 1= Very much Better, 2= Moderately Better, 3= A Little Better, 4= No Change, and 5= A Little Worse 6= Very much Worse. Higher score means worse health status, means worse outcome; lower score means better health status, means better outcome. End of treatment means end of Visit 5 (Week 12) for Period 1 and end of Visit 10 (Week 12) for Period 2. Results were pooled for each 12 week period.

Trial Locations

Locations (1)

McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine

🇺🇸

Baltimore, Maryland, United States

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