The Severe Chronic Neutropenia International Registry (the Registry) opened in 1994 to study the long-term safety and efficacy of granulocyte-colony stimulating factor (G-CSF) treatment for patients with congenital, cyclic and idiopathic neutropenia. The Registry initially evaluated hematological parameters, growth and development, consequence of pregnancy, and other important clinical events. The Registry is now an international research organization based at the University of Washington. In this grant, we request funding to continue the work of the Registry. In brief, the specific aims are: (1) To expand the longitudinal clinical database on patients with severe chronic neutropenia, (2) To expand a bank of biological materials to support genetic and molecular research and study the evolution of patients at risk to develop myelodysplasia and leukemia, (3) To serve as a resource to support clinical trials to improve therapy, (4) To serve as a educational resource for patients, families, physicians and other care providers, (5) To cooperate with researchers studying the other hematopoietic failure disorders. All of these efforts are directed toward improving understanding of the care of patients with severe chronic neutropenia.
The Registry benefits patients, their families and the physicians who treat them by providing the most up to date information to them on the natural history of SCN and its treatment options, leading to improved medical care. It is also used to further research to determine the causes of neutropenia.
|Dale, David C; Mackey, Michael C (2015) Understanding, treating and avoiding hematological disease: better medicine through mathematics? Bull Math Biol 77:739-57|
|Makaryan, Vahagn; Rosenthal, Elisabeth A; Bolyard, Audrey Anna et al. (2014) TCIRG1-associated congenital neutropenia. Hum Mutat 35:824-7|
|Myers, Kasiani C; Bolyard, Audrey Anna; Otto, Barbara et al. (2014) Variable clinical presentation of Shwachman-Diamond syndrome: update from the North American Shwachman-Diamond Syndrome Registry. J Pediatr 164:866-70|
|Rigaud, Charlotte; Lebre, Anne-Sophie; Touraine, Renaud et al. (2013) Natural history of Barth syndrome: a national cohort study of 22 patients. Orphanet J Rare Dis 8:70|
|Pasquet, Marlene; Bellanne-Chantelot, Christine; Tavitian, Suzanne et al. (2013) High frequency of GATA2 mutations in patients with mild chronic neutropenia evolving to MonoMac syndrome, myelodysplasia, and acute myeloid leukemia. Blood 121:822-9|
|Newburger, Peter E; Dale, David C (2013) Evaluation and management of patients with isolated neutropenia. Semin Hematol 50:198-206|
|Rosenberg, Philip S; Zeidler, Cornelia; Bolyard, Audrey A et al. (2010) Stable long-term risk of leukaemia in patients with severe congenital neutropenia maintained on G-CSF therapy. Br J Haematol 150:196-9|
|Newburger, Peter E; Pindyck, Talia N; Zhu, Zhiqing et al. (2010) Cyclic neutropenia and severe congenital neutropenia in patients with a shared ELANE mutation and paternal haplotype: evidence for phenotype determination by modifying genes. Pediatr Blood Cancer 55:314-7|
|Dale, David C (2010) Recent progress in understanding the congenital neutropenias. Curr Opin Hematol 17:1-2|
|Shimamura, Akiko; Alter, Blanche P (2010) Pathophysiology and management of inherited bone marrow failure syndromes. Blood Rev 24:101-22|
Showing the most recent 10 out of 19 publications