Like other rare mitochondrial disorders, Pearson syndrome is difficult to treat. Using our earlier research efforts in Pearson syndrome, Protheragen is now advancing therapy development to improve treatment and management of Pearson syndrome. As your partner in research pertaining to the development of drugs for Pearson syndrome, we work with you to provide the help necessary to fulfill your research objectives.
Pearson syndrome is an uncommon multisystem disease of the mitochondria associated with large-scale deletions or duplications in mitochondrial DNA (mtDNA) which impairs oxidative phosphorylation, leading to energy failure at the cellular level. It predominantly affects hematopoietic stem cell, presenting as sideroblastic anemia and pancreatic exocrine failure, followed by multi-organ failure. The Pearson syndrome incidence rate is estimated to be around one in a million individuals.
Fig. 1 Symptoms of mitochondrial diseases. (Hong, Seongho, et al., 2023)
Pearson syndrome arises as a result of significant deletions of mtDNA which affects oxidative phosphorylation and ATP synthesis. The deficiency in the mitochondria is very much pronounced in organ systems like the blood system which require energy, resulting in secondary symptoms such as anemia and insufficient function of the pancreas. The systemic repercussions led by mitochondrial dysfunction cause damage to multiple organs and brings about the clinical features such as developmental delay, growth retardation, lactic acidosis, and neurologic complications.
Fig. 2 Schematic diagram of the pathogenesis of Pearson syndrome. (Hong, Seongho, et al., 2023)
At present, therapeutics of Pearson syndrome centers around treatment of symptoms and complications of the disorder. More effective and specific treatment options for Pearson syndrome are very much needed. Because of the intrinsic mitochondrial abnormality and the limitations of Pearson syndrome's therapies, it is essential to develop novel strategies that relieve oxidative stress, protect organ systems, and restore mitochondrial function.
| Therapy | Type | Targets | Mechanism of Action | Development Stage |
|---|---|---|---|---|
| Elamipretide | Mitochondrial-targeted peptide | Cardiolipin | Stabilizes ETC complexes, reduces ROS | Phase III |
| Vatiquinone | Small molecule | NADPH oxidase | Protects mitochondrial function | Phase II/III |
| Mitochondrial Replacement Therapy | Gene therapy | Mutant mtDNA | Replaces mtDNA in oocytes/early embryos | Preclinical |
| Omaveloxolone | Small molecule | NRF2 pathway | Reduces oxidative stress, improves mitochondrial biogenesis | Phase II |
| Lentiviral Gene Therapy | Gene therapy | Nuclear genes | Boosts mitochondrial biogenesis | Preclinical |
Disclaimer: Protheragen focuses on providing preclinical research services. This table is for information exchange purposes only. This table is not a treatment plan recommendation. For guidance on treatment options, please visit a regular hospital.
Recognizing the complexity of diagnosing and treating Pearson syndrome, Protheragen is committed to building a team of experts to provide cutting-edge diagnostic and therapeutic development solutions. Our commitment lies in providing a variety of customized therapy development services to meet the diverse research needs of our customers. We also excel in generating precise disease models that are carefully engineered to replicate the unique features of Pearson syndrome. These models are valuable tools for validating the safety and efficacy of potential therapeutics.
Animal Model Development Services
Protheragen specializes in constructing genetically engineered models tailored for Pearson syndrome, facilitating comprehensive research into this condition.
At Protheragen, we are committed to validating and optimizing therapies for Pearson syndrome through preclinical studies including pharmacodynamics (PD), pharmacokinetics (PK) and toxicology to ensure their successful regulatory approval. If you are interested in our services, please feel free to contact us for more details and quotation information of related services.
Reference
Myeloproliferative Disorders (MPDs)
Bone Marrow Failure Syndromes (BMFS)
