According to a publication from Business Wire, the Israeli biotechnology company Minovia Therapeutics recently finished dosing the first participant in a phase I/II clinical study of the Company’s experimental mitochondrial augmentation therapy (MAT) designed to treat Pearson syndrome.
About Pearson Syndrome
Pearson syndrome is a rare condition that affects hematopoietic stem cells in bone marrow. Hematopoietic stem cells are nascent blood cells that are later specialized into red blood cells, white blood cells, or platelets to fulfill certain important homeostatic functions.
The condition is caused by a mutation to mitochondrial DNA, which is different from the DNA you’re probably thinking of (which is found in the nucleus). Mitochondrial DNA consists of only 37 genes — and each one is vitally important to the process by which cells create energy. The smallest chromosome in the nucleus has over 200 genes, for comparison.
When mitochondrial DNA is mutated, cells aren’t able to generate energy as efficiently. It’s this lack of available cellular energy that causes Pearson syndrome.
Deficiency of hematopoietic stem cells leads in turn to shortages of red and white blood cells, as well as platelets. Because of the unique functions of these blood cells, Pearson syndrome can cause a variety of serious health concerns.
Shortages of red blood cells (anemia) can cause weakness and fatigue. Low white blood cell count (neutropenia) can leave an individual susceptible to infection. Platelet shortages (thrombocytopenia) can lead to bleeding episodes reminiscent of hemophilia.
Because of the multitude of serious health risks posed by a shortage of blood stem cells, Pearson syndrome is often fatal in infancy or early childhood. Patients who make it to 4 years of age have better overall odds of survival, and their symptoms may eventually become less severe.
Treatment options are limited to the specific symptoms, such as frequent blood transfusions to maintain red cell count or fighting repeated infection due to low white cell count. There is no cure and stem cell transplants seem to be ineffective when employed against system-wide conditions like Pearson syndrome.
Mitochondrial Augmentation: The Way Forward?
Minovia therapeutics is attempting to solve the Pearson syndrome riddle with a single-dose injection. The company’s MAT (mitochondrial augmentation therapy) technique relies on taking some autologous hematopoietic stem cells from a patient, modifying them with functional mitochondria, and then reintroducing it to the body.
Although a phase I/II trial is exceptionally early in the clinical trial process, it’s still worth getting excited about. If the MAT technique is eventually approved by the FDA, it could mean a world of difference to those living with Pearson syndrome or any other mitochondrial disease.
What might some of the challenges be when fighting an idiopathic condition like Pearson syndrome? Share your thoughts with Patient Worthy!