Patient Advocacy Organization is Funding a Research Project to Study the Extremely Rare and Debilitating Disorder, Erdheim-Chester Disease
(September 15, 2013) The Erdheim-Chester Disease-Global Alliance (ECD-GA), an international patient advocacy organization, has awarded a $50,000 grant to a team of researchers at Memorial Sloan-Kettering Cancer Center for the study of Erdheim-Chester Disease (ECD). ECD is an extremely rare, debilitating, and life-threatening disorder about which little is known. The primary investigators for this grant will be Omar Abdel-Wahab, M.D.; David Hyman, M.D.; and Eli Diamond, M.D.
Erdheim-Chester Disease, first described in the literature in 1930, is considered one of the histiocytic diseases and is often described as a rare multi-system, non-Langerhans cell histiocytosis. ECD usually affects adults, although it has been known to occur in children. Disease involvement may include long bones of the legs and arms, skin, tissues behind the eyeballs, lungs, brain, pituitary gland, kidney, abdominal cavity, heart, adrenal glands and more rarely other organs. Each patient can have a different combination of organs attacked. Early symptoms are often non-specific and varied, but may include bone pain in the knees and lower legs, protruding eyes, excessive thirst/urination (diabetes insipidus), balance issues, reduced kidney function, breathing problems, heart issues, extreme fatigue, fever and/or night sweats.
Applications submitted by national and international organizations in response to a request for proposals were reviewed by the ECD Global Alliance Medical Advisory Board. The review process was modeled after that used by The National Institutes of Health (NIH), the primary Federal United States agency for conducting and supporting medical research. The Sloan-Kettering team’s grant proposal was chosen for funding based on the strength of the science and the hope it offers to patients.
The aim of Sloan-Kettering’s research team will be to investigate somatic genetic alternations in the pathogenesis and therapy of ECD with specific aims to 1) identify recurrent somatic genetic events in addition to the BRAFV600E mutations in patients with ECD; 2) identify the cell of origin in ECD; and 3) identify the optimal targeted therapy in histiocytic disorder patients with mutations activating kinase signaling.
In talking about his recently funded study, Dr. Abdel-Wahab of the Sloan-Kettering research group said, “It is an honor for our team to receive this generous funding from the ECD Global Alliance. Our experience treating patients with ECD and interacting with patients and their families has been so fulfilling for our group. Moreover, our preliminary studies of the basic mechanisms underlying ECD has already proven to be very enlightening.”
“It represents hope to ECD patients that talented researchers, like the Sloan-Kettering group, are investigating such a rare disease,” says Mrs. Brewer, ECD Global President. “Research into this disease will identify better ways to diagnose and treat patients; helping patients who often feel isolated and forgotten.”
Memorial Sloan-Kettering Cancer Center Primary Investigators:
Dr. Omar Abdel-Wahab, M.D., has a Bachelor of Science Summa Cum Laude in Biology from Duke University, Durham, NC, and a Medical Doctorate Alpha Omega Alpha from Duke University School of Medicine, Durham, NC. Dr. Abdel-Wahab specializes in hematology and oncology at Memorial Sloan-Kettering Cancer Center.
David M Hyman, M.D., has a Bachelor of Science in Biology from Brown University in Providence, RI and a Medical Doctorate from Weill Cornell Medical College in New York, NY. Dr. Hyman specializes in oncology at Memorial Sloan-Kettering Cancer Center.
Eli L. Diamond, M.D., has a Bachelor of Arts Summa Cum Laude in Comparative Study of Religion from Harvard University, Cambridge, Massachusetts, a Masters of Philosophy in the History and Philosophy of Science and Medicine from the University of Cambridge, Cambridge, United Kingdom and a Medical Doctorate Alpha Omega Alpha from the Albert Einstein College of Medicine, Bronx, New York. Dr. Diamond specializes in Neuro-Oncology at Memorial Sloan-Kettering Cancer Center.
“Funding future research projects to learn more about ECD is a major goal of the organization,” said Mrs. Brewer. “We hope to fund more research projects in the near future.” More information about Erdheim-Chester Disease is available at www.erdheim-chester.org.