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PNH basics

PNH Research Retrospective


What do you think are the most impressive or significant advances in PNH research and treatment over the last five years? If you extend this back 30 years, what does the longer perspective indicate?

The most important event for PNH in the last thirty years is how the gradual improved understanding of the disease and disease mechanisms has led to the improved in diagnosis, care, and treatment of patients. PNH is one of the diseases that are exemplary in medicine, illustrating how insights gained through research may lead to a better and more specific diagnosis and treatment for the patients.

In the last five years, the knowledge of the disease mechanism has led to the design of a specific targeted therapy, using complement inhibitors that block the activation of complement and thus abolishes hemoloysis in patients with PNH-- a logical consequence.

At the same time, in the last five years, have there been setbacks or instances where you feel progress has not kept up with general expectations or predictions made five years ago?

I think the general prediction five or ten years ago was that by now we would understand why patients develop PNH. We thought the answer could be simple and close, and there are some attractive models, but none has been proven, and none of them has yet led to the prevention of PNH occurring.

With PNH, is there a consensus on overall direction research will take or needs to take --- or is this as diverse as the areas of interest that individual researchers or research teams have?

There are probably two or three areas where PNH research is pushing forward. One of the areas that is currently very active in several academic and commercial institutions is the design of additional treatments for patients using similar approaches of complement inhibition. The other direction or pursuit is to understand why PNH occurs in the first place –this is a very difficult question. There are investigators, including ourselves, who have persistently tried to understand this mechanism. Also the clinical side PNH is an active area of research. An example is the applicability and improvement of hematopoietic stem cell transplantation for PNH patients, as this is really the only cure. Another very interesting area of research is the Global PNH Registry, that tries to capture and study the clinical presentation, natural course of disease, and response to various treatments worldwide.

Several years ago we asked a panel if generalist hematologists/oncologists were adequately informed about bone marrow failure disease, and what could be done to bridge any gap between the generalists and researchers/specialists. What are your thoughts?

I feel that general hematologists and disease specialists should work closely together in the care of patients with these disorders. Generalists are the ones who first encounter these diseases, but the specialist can communicate and bring the new advances and therapies in the disease to the generalist. So I strongly recommend that any generalist who has patient with PNH works together with a specialist so that they always have an opportunity to ask questions, and the specialist has the opportunity to offer advice as treatment opportunities or indication for treatment change. I think this is probably the wisest and most economical clinical approach for patients with PNH. This interaction between the generalist and the specialist will also help to acquire an overview on the current course of the disease, what possible treatment complications or late effects are, and how are those best prevented.

Education Topics: 


AAMDSIF hosts Patient & Family Conferences around the United States each year. Conferences are free to attend and include presentations by the leading medical experts in rare blood cancers and bone marrow failure diseases. It is also an incredible and important opportunity for patients to connect with one another and share support, answers and hope.