(DGIwire) – Those who have been newly diagnosed with paroxysmal nocturnal hemoglobinuria (PNH) may be going through a confusing and emotional period. However, there are several steps they can take to deal with their diagnosis. Here are a few suggestions:
- Learn more about PNH: PNH is a rare and serious acquired disease that causes red blood cells to break apart, according to the PNH Research & Support Foundation. PNH is thought to derive from a mutation in the PIG-A gene. Its symptoms can include intermittently dark urine, fatigue, muscle weakness, abdominal pain, back pain, thrombosis (blood clots), easy bruising or bleeding, headache and shortness of breath, according to the National Institutes of Health.
- See a PNH specialist: PNH is so rare that many doctors have never seen or treated a patient with the disease. One of the single most important things PNH patients can do is to see a specialist who is very familiar with their unique needs. Consulting the websites of organizations such as the PNH Research & Support Foundation can provide helpful firsthand information on doctors.
- Talk to other patients: Many patients and their families facing a rare disease like PNH find it valuable to connect with others who are living with PNH. There are active online communities—such as PNH Support Group and Marrowforums—that can provide helpful firsthand advice and information on managing the condition.
- Keep tabs on developing treatments and clinical studies: Akari Therapeutics, a clinical-stage biopharmaceutical company, is developing a small recombinant compact protein named Coversin for the treatment of a range of rare diseases including PNH. The European Medicines Agency (EMA) Committee for Orphan Medicinal Products (COMP) recently published a positive opinion recommending orphan drug designation for Coversin, Akari’s lead clinical product, for PNH.
“We have also recently received approval by the UK Medicines & Healthcare Products Regulatory Agency to conduct a Phase 2 study in patients with PNH,” says Gur Roshwalb, M.D., CEO of Akari. “This open-label study will study Coversin for 90 days in up to 10 patients with PNH who are not receiving any other complement therapy.”
Coversin is designed to inhibit the action of C5 and LTB4, molecules that play key roles in a component of the immune system called the complement system and in the inflammatory system. Ordinarily, the complement system helps disable and clear out foreign invaders and unwanted cells, but when C5’s variants are produced in unregulated numbers, the result can trigger life-threatening inflammatory and autoimmune conditions. Further, LTB4, produced in inflammatory reactions, attracts white blood cells (neutrophils) to the area of inflammation, increasing the inflammatory reaction.
“Physicians’ and patients’ understanding of PNH has grown dramatically over the past several years,” adds Roshwalb. “As more studies occur and more treatment options become available, we hope the quality of care continues to improve for those affected by PNH.”