Primary Mitochondrial Myopathy (PMM)

Rare diseases are one of the most challenging specialties within clinical trials, due to limited patient populations, lack of historic large scale studies to draw knowledge/clinician expertise and build upon, and frequently, lack of necessary funding to conduct thorough and multi-phased research.  That is why Eurofins Central Laboratory is delighted to once again participate with Orphan Reach, Emmes’ rare disease CRO, and their extensive expertise with overcoming these challenges.

With an estimated 1 in 5000 people in the United States, suffering from mitochondrial disease, and smaller subset of those, classified with Primary Mitochondrial Myopathy (PMM), this indication falls firmly within the Rare Disease classification.  Currently there is no FDA approved cure or disease modifying treatment.  Modern medicine’s best current action is one of treating symptoms, and alleviating conditions based upon each individual’s unique circumstances.  Even diagnosis of PMM presents its own set of challenges. 

Physical tests, such as electromyography, electroencephalography, CT, MRI and magnetic resonance spectroscopy can all point clinicians in the right direction.  This then typically leads to more invasive diagnosis procedures of muscle biopsy and molecular genetic testing. 

In recent years, exploratory biomarkers of fibroblast growth factor 21 (FGF-21), growth differentiation factor 15 (GDF-15), and glutathione have been explored.¹ In addition, based upon organ localized symptoms, the following assays have been suggested as indicators of disease status; lactate, pyruvate, creatine-kinase (CK), amino acids, organic acids, carnitines, and oxidative stress parameters distributed across biological specimen types of blood, urine, saliva, or CSF.²

To oversee these complexities of study conduct, clinical and physical evaluations via services of Orphan Reach and biomarker/safety/efficacy services of Eurofins Central Laboratory, please reach out to your respective Business Development representative and we will collaborate on your development activity moving forward in this critical need!

Further information can be found at https://info.eurofinsbiopharmaservices.com/emmes-agreement.

1. Karaa A, Haas R, Goldstein A, Vockley J, Cohen BH. A randomized crossover trial of elamipretide in adults with primary mitochondrial myopathy. Journal of Cachexia, Sarcopenia and Muscle. Volume 11, Issue 4, August 2020, pages 909-918.
2. Finsterer J, Zarrouk-Mahjoub S. Biomarkers for Detecting Mitochondrial Disorders. J Clin Med. 2018 Jan 30;7(2):16. doi: 10.3390/jcm7020016. PMID: 29385732; PMCID: PMC5852432.