PMM Primary Mitochondrial Myopathy
Conditions
Interventions
Each patient will be given either REN001 treatment or placebo (dummy
medication) treatment for 24 weeks. Neither the doctor nor the patient will
know who is given which study drug treatment (double-
Sponsors
Reneo Pharma Ltd
Eligibility
Age
18 Years to 99 Years
Inclusion criteria
Inclusion criteria: 1. Subjects aged 18 years or older with PMM 2. A confirmed PMM diagnosis due to known pathogenic gene mutation or deletion of the mitochondrial genome. 3. Documented PMM primarily characterized by exercise intolerance or active muscle pain. 4. Subjects must be ambulatory and able to perform the 12MWT independently (walking aids are allowed). 5. Distance walked of
Exclusion criteria
Exclusion criteria: 1. Participation in a prior REN001 study. 2. Currently taking or anticipated to need a PPAR agonist during the study. 3. Bone deformities or motor abnormalities other than related to the mitochondrial myopathy that may interfere with the outcome measures. 4. Treatment with an investigational drug within 3 months or 5 drug half-lives, whichever is longer, prior to Day 1. 5. Anticipated to need a prescription and/or non-prescription drug that might interfere with the study endpoints 6. Currently taking drugs with a narrow therapeutic index and BCRP mediated ADME 7. Clinically significant kidney disease or impairment with an eGFR less than 60ml/min/1.73m2 using the CKD-EPI creatinine equation at Screening. 8. Clinically significant liver disease or impairment of AST or ALT Grade 2 or above (>2.5 x ULN), or Total bilirubin > 1.6 x ULN or >ULN with other signs and symptoms of hepatotoxicity at Screening. 9. Uncontrolled diabetes and/or a Screening HbA1c of >=11%. 10. Uncontrolled epilepsy. 11. Evidence of significant concomitant clinical disease that may need a change in management during the study or could interfere with the conduct or safety of this study. 12. A history of cancer. A history of in situ basal cell carcinoma in the skin is allowed. 13. Have been hospitalized within the 3 months prior to Screening for any major medical condition (as deemed by the Investigator). 14. Clinically significant cardiac disease and/or clinically significant ECG abnormalities including a screening QTcF of >= 450 msec, 2nd degree heart block, symptomatic tachyarrhythmia or unstable arrythmia that in the opinion of the Investigator should exclude the subject from completing exercise tests (i.e. study 12 MWT and 30 STS tests). 15. Any condition possibly reducing drug absorption. 16. Evidence of hospitalization for rhabdomyolysis within the year prior to enrolment. 17. Positive HBsAg and HBcAb at screening or positive for hepatitis C or HIV at Screening.. 18. Pregnant or nursing females. 19. History of sensitivity to PPAR agonists. 20. Donation or intent to donate blood, or blood components during the study or within one month after completion of the study. 21. A history of drug dependency. Use of opiates/cannabis for medical reasons is acceptable with prescription evidence or at the Investigators discretion. 22. A history of alcohol dependency. 23. Significant impairment due to central or peripheral nervous system involvement that would interfere with the exercise tests. 24. Significant weakness not caused by the underlying primary muscle disease such as post stroke or neurogenic weakness. 25. Have had an organ transplant. 26. Are not eligible or have a contraindication for cataract surgery. 27. A history of osteoporosis as evidenced by non-traumatic (stress) fractures or a prior T-score of -2.5 or worse which has not been adequately addressed. 28. Inability to comprehend or unwilling to follow the study requirements including restrictions on treatments, attendance at the study center, completion of questionnaires and participation in laboratory testing as called for by the protocol. 29. Any other severe acute or chronic medical or psychiatric condition or laboratory abnormality that may increase the risk associated with study participation or investig
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Change from baseline in distance walked during the 12 minute walk test. | — |
Secondary
| Measure | Time frame |
|---|---|
| Change from Baseline in the Modified Fatigue Impact Scale (MFIS) Physical sub-scale score; Patient Global Impression of Change (PGIC) score (muscle symptoms). | — |
Countries
Netherlands
Outcome results
None listed