PMM Primary Mitochondrial Myopathy
Conditions
Interventions
N/A
This is an open-label study and all participants will receive the study drug
REN001
Sponsors
Reneo Pharma Ltd
Eligibility
Age
18 Years to 99 Years
Inclusion criteria
Inclusion criteria: 1. mtDNA-PMM subjects:Completed treatment in the STRIDE study or was participating in Study REN001-101, and in the opinion of the Investigator and the Sponsor have been compliant with the study requirements. Or nDNA-PMM subjects: Subjects aged 18 years or older with known nuclear (nDNA) pathogenic variants with a major muscle phenotype consisting of objective myopathy with poor exercise tolerance. Proof of pathogenicity must be provided. Must be able to walk at least 100m in the screening 12MWT and the limitations in walk test must be primarily due to the energy deficit and not due to ataxia or any other condition. For subjects under 25 years old only: confirmation of bone growth plate closure by wrist radiograph. 2. Have PMM which continues to be primarily characterized by exercise intolerance or active muscle pain. 3. Willing and able to swallow gelatin capsules. 4. Concomitant medications (including supplements) intended for the treatment of PMM or other co-morbidities likely to remain stable throughout participation in the study where clinically possible. 5. Signed and dated informed consent document indicating that the subject has been informed of all pertinent aspects of the study. 6. Females should be either of non-child-bearing potential or must agree to use highly effective methods of contraception from baseline through to approximately 30 days after last dose of study drug. Males with partners who are WOCBP must also use contraception from baseline through to 14 weeks after last dose of study drug.
Exclusion criteria
Exclusion criteria: 1. Anticipated to need a PPAR agonist other than REN001 during the study. 2. Anticipated to need drugs during the study with a narrow therapeutic index and Breast Cancer Resistant Protein (BCRP) mediated absorption, distribution, metabolism and excretion (ADME). 3. Intent to donate blood, or blood components during the study or within one month after completion of the study. 4. Current drug dependency. Use of opiates/cannabis for medical reasons is acceptable with prescription evidence or at the Investigator*s discretion. 5. Current alcohol dependency. 6. Any medical or psychiatric condition or laboratory abnormality that may increase the risk associated with study participation or interfere with the interpretation of study results and, in the judgment of the Investigator and Medical Monitor, would make the subject inappropriate for entry into this study. 7. Pregnant or nursing females.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| The safety and tolerability of REN001 will be assessed by the following parameters: •Number and severity of adverse events (AE) •Number of AEs leading to study drug discontinuation •Number of serious adverse events (SAEs) •Number of adverse events of special interest (AESIs) •Number of AEs leading to death These end points will be evaluated throughout the study. | — |
Secondary
| Measure | Time frame |
|---|---|
| Secondary study parameters are as follows: Absolute values, changes from baseline, and incidence of potentially clinically significant changes in: •Laboratory safety tests •Electrocardiograms (ECG) •Supine vital signs •Eye assessments Absolute values and changes from baseline in: •Distance walked during the 12-Minute Walk Test (12MWT) •Modified Fatigue Impact Scale (MFIS) total scores and sub-scale scores •Patient Global Impression of Severity (PGIS) scores for fatigue and muscle symptoms •Brief Pain Inventory (BPI) pain severity and pain interference scores •Patient Reported Outcomes Measurement Information System (PROMIS) Short Form-Functional Assessment of Chronic Illness Therapy (FACIT) Fatigue 13a scores •36 item Short Form Health Survey (SF-36) domain scores (7-day recall) •Work Productivity and Activity Impairment Questionnaire: Specific Health Problem (WPAI:SHP) scores •PGIC (muscle and fatigue symptoms) scores These end points will be evaluated throughout the study. | — |
Countries
Netherlands
Outcome results
None listed