Cedric Francois, MD, PhD, Co-Founder & CEO of Apellis Pharmaceuticals, gives an overview of paroxysmal nocturnal hemoglobinuria (PNH). 

As Dr. Francois explains, PNH is a rare genetic blood disorder characterized by hemolytic anemia, thrombosis, and impaired bone marrow function. It is an acquired disorder that leads to the premature death and impaired production of blood cells. People with PNH have recurring episodes of symptoms due to hemolysis, which may be triggered by stresses on the body such as infections or physical exertion. This results in a deficiency of various types of blood cells and can cause signs and symptoms such as fatigue, weakness, pallor, shortness of breath, and an increased heart rate. Individuals with PNH may be prone to infections, thrombosis, and hemorrhage, and are at increased risk of developing leukemia. It is caused by acquired, rather than inherited, mutations in the PIGA gene.

While there is a standard drug for PNH treatment – eculizumab – most patients still have low hemoglobin levels and many require at least one blood transfusion every year. Based on positive results of the phase 3 PEGASUS trial, Dr. Francois is hopeful that Apellis’ investigational drug, pegcetacoplan, will improve quality of life for PNH patients by increasing their hemoglobin levels. 

To learn more about PNH and other rare blood disorders, visit checkrare.com/diseases/hematologic-disorders/.