Primary Mitochondrial Disease Resulting from Pathogenic Nuclear DNA Mutations (nPMD) MedDRA version: 20.0 Level: SOC Classification code 10010331 Term: Congenital, familial and genetic disorders System Organ Class: 10010331 - Congenital, familial and genetic disorders MedDRA version: 20.0 Level: HLGT Classification code 10052635 Term: Cytoplasmic disorders congenital System Organ Class: 10010331 - Congenital, familial and genetic disorders MedDRA version: 20.0 Level: HLT Classification code 1
Conditions
Interventions
Product Name: Elamipretide
Product Code: MTP-131
Pharmaceutical Form: Solution for injection
INN or Proposed INN: ELAMIPRETIDE
CAS Number: 736992-21-5
Current Sponsor code: MTP131, SS-31
Other descri
Sponsors
Stealth BioTherapeutics Inc.
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: 1. Willing and able to provide a signed informed consent form (ICF) prior to participation in any trial-related procedures. 2. Agrees and is able to adhere to the trial requirements for the length of the trial, including administration of assigned treatment. 3. Is =18 years and = 70 years of age at the time of screening. 4. Diagnosed with nPMD with a predominant clinical manifestation of myopathy, which must include progressive external ophthalmoplegia (PEO) and exercise intolerance and/or skeletal muscle weakness, with genetic confirmation of either: a. Nuclear DNA mutation of the mitochondrial replisome (replisome related mutations), which include the following genes: - POLG 1/2 - TWINKLE (C10ORF2) - TYMP - DGUOK - TK2 - RRM2B - RNASEH1 - SSBP - MGME1 - DNA2 - ANT1 (SLC25A4) - SUCLG1 - SUCLA2 - MPV17 or b. Other pathogenic mutations specific to nuclear DNA. 5. Women of childbearing potential must agree to use one of the following methods of birth control from the date they sign the ICF until 28 days after the last dose of IMP: a. Abstinence, when it is in line with the preferred and usual lifestyle of the subject. Subject agrees to use a highly effective method of contraception should they become sexually active. b. Relationships with male partners who have been surgically sterilized by vasectomy (the vasectomy procedure must have been conducted at least 60 days prior to the Screening Visit). c. Barrier method (e.g., condom or occlusive cap) with spermicidal foam/gel/film/cream AND either hormonal contraception (oral, implanted, or injectable) or an intrauterine device or system. Note: Non-childbearing potential is defined as surgical sterilization (e.g., bilateral oophorectomy, hysterectomy, or tubal ligation) or postmenopausal (defined as permanent cessation of menstruation for at least 12 consecutive months prior to the Screening Visit). 6. Male subjects with female partners of childbearing potential must be willing to use a highly effective method of contraception from the date they sign the ICF until 28 days after the last dose of IMP. Are the trial subjects under 18? no Number of subjects for this age range: F.1.2 Adults (18-64 years) yes F.1.2.1 Number of subjects for this age range 98 F.1.3 Elderly (>=65 years) yes F.1.3.1 Number of subjects for this age range 32
Exclusion criteria
Exclusion criteria: 1. Subject is unable to perform the 6MWT, 3TUG, or 5XSST functional tests. The use of a gait assist device is allowed; however, use should remain consistent for the entire duration of the trial. 2. Female subjects who are pregnant, planning to become pregnant, or breastfeeding/lactating. 3. Walks 450 meters during the 6MWT (Screening visit only). 4. The estimated glomerular filtration rate (eGFR) is 1,000 cells x106/L at the Screening Visit. 13. Subject is currently participating or has participated in an interventional clinical trial (i.e., investigational product or device, stem cell therapy, gene therapy) within 30 days prior to current trial; or is currently enrolled in a non-interventional clinical trial that, in the opinion of the Investigator, may be potentially confounding to the results of the current trial (e.g., exercise therapy trial). 14. Subject has received elamipretide (MTP-131) within the past one year of the Screening Visit. 15. Subject has a history of active substance abuse during the year prior, in the opinion of the Investigator. 16. Subject has any prior or current medical condition that, in the judgment of the Investigator, would prevent the subject from safely participating in and/or completing all trial assessments and requirements to the best of their ability.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Main Objective: • To evaluate the effect of single daily SC administration of elamipretide for 48 weeks on the: - Distance walked (in meters) on the 6-Minute Walk Test (6MWT);Secondary Objective: • To evaluate the effect of single daily SC administration of elamipretide for 48 weeks as measured by changes in the: - Total time (in seconds) the Five-Times Sit-to-Stand Test (5XSST) - Total time (in seconds) the Triple Timed Up-and-Go Test (3TUG) - Patient Global Impression (PGI) of Change Scale • To evaluate the safety and tolerability of single daily SC doses of elamipretide administered for 48 weeks;Primary end point(s): • To evaluate the effect of single daily SC doses of elamipretide administered for 48 weeks on the: - Distance walked (in meters) on the 6MWT;Timepoint(s) of evaluation of this end point: 6MWT: At all clinical site visits (Screening; Day 1; Week 12; Week 24; Week 36; Week 48; EOT) | — |
Secondary
| Measure | Time frame |
|---|---|
| Secondary end point(s): • To evaluate the effect of single daily SC doses of elamipretide administered for 48 weeks on the: - Total time (in seconds) on the Five Times Sit-to-Stand Test (5XSST) - Total time (in seconds) on the Triple Timed Up-and-Go Test (3TUG) - Patient Global Impression of Change (PGI) of Change Scale;Timepoint(s) of evaluation of this end point: 3TUG, 5XSST, PGI Tests: At all study site visits (Screening; Day 1; Week 12; Week 24; Week 36; Week 48; EOT) | — |
Countries
Australia, Denmark, Finland, Germany, Hungary, Italy, Netherlands, Norway, Spain, United Kingdom, United States
Contacts
Public ContactHess Suh
Stealth BioTherapeutics Inc.
Outcome results
None listed