34 research outputs found
Mast Cell Diseases in Practice and Research: Issues and Perspectives Raised by Patients and Their Recommendations to the Scientific Community and Beyond
Background: Since 2010, patients and physicians have collaborated to understand unmet needs of patients with mast cell diseases, incorporating mastocytosis and mast cell activation disorders, which include mast cell activation syndromes. Objective: This Open Innovation in Science project aims to expand understanding of the needs of patients affected by mast cell diseases, and encourage global communication among patient advocacy groups, physicians, researchers, industry, and government. A major aim is to support the scientific community's efforts to improve diagnosis, management, therapy, and patientsâ quality of life by addressing unmet needs. Methods: In collaboration with mast cell disease specialists, 13 patient advocacy groups from 12 countries and regions developed lists of top patient needs. A core team of leaders from patient advocacy groups collected and analyzed the data and proposed possible actions to address patient needs. Results: Findings identified similarities and differences among participating countries in unmet needs between patients with mastocytosis and those with mast cell activation syndromes. Issues emphasized struggles relating to the nature and rarity of mast cell diseases, their impact on quality of life, the diagnostic process, access to appropriate care, more effective treatment, and the need for research. Conclusions: Solutions vary across countries because situations differ, in particular regarding the existence of and access to centers of excellence and reference centers. Multifaceted mast cell activation syndrome barriers necessitate innovative approaches to improve access to appropriate care. The outcomes of this project should greatly support scientists and clinicians in their efforts to improve diagnosis, management, and treatment of patients with mastocytosis and mast cell activation disorders.The authors thank Tania Bray, Jan Hempstead, Heather
Mayne, Joanne Mulder-Brambleby, and Irene Wilson for their
supporting contributions, and all patients and families affected
by MCDs, who shared their needs and concerns for development
of this project. Authors involved in study conception and design
were P. Valent, S.V. Jennings, C.C. Finnerty, J.S. Hobart, M.
MartĂn-MartĂnez, K.A. Sinclair, V.M. Slee, J. Agopian, C. Akin,
I. Ălvarez-Twose, P. Bonadonna, A.A. Bowman, K. Brockow, H.
Bumbea, C. de Haro, J.S. Fok, K. Hartmann, N. Hegmann, O.
Hermine, M. Kalisiak, C.H. Katelaris, J. Kurz, P. Marcis, D.
Mayne, D. Mendoza, A. Moussy, G. Mudretzkyj, N. Nidelea
Vaia, M. Niedoszytko, H. Oude Elberink, A. Orfao, D.H.
Radia, S. Rosenmeier, E. Ribada, W. Schinhofen, J. Schwaab, F.
Siebenhaar, M. Triggiani, G. Tripodo, R. Velazquez, Y. Wielink,
F. Wimazal, T. Yigit, and C. Zubrinich. Authors involved in acquisition and review of data were S.V. Jennings, C.C. Finnerty,
J.S. Hobart, M. MartĂn-MartĂnez, K.A. Sinclair, V.M. Slee, J.
Agopian, C. Akin, I. Ălvarez-Twose, P. Bonadonna, A.A.
Bowman, K. Brockow, H. Bumbea, C. de Haro, J.S. Fok, K.
Hartmann, N. Hegmann, O. Hermine, M. Kalisiak, C.H.
Katelaris, J. Kurz, P. Marcis, D. Mayne, D. Mendoza, A.
Moussy, G. Mudretzkyj, N. Nidelea Vaia, M. Niedoszytko, H.
Oude Elberink, A. Orfao, D.H. Radia, S. Rosenmeier, E. Ribada, W. Schinhofen, J. Schwaab, F. Siebenhaar, M. Triggiani, G.
Tripodo, R. Velazquez, Y. Wielink, F. Wimazal, T. Yigit, C.
Zubrinich, and P. Valent. The Core Group (analysis and interpretation of data and drafting of the manuscript) include S.V.
Jennings, C.C. Finnerty, J.S. Hobart, M. MartĂn-MartĂnez, K.A.
Sinclair, and V.M. Slee. Critical revision was performed by S.V.
Jennings, C.C. Finnerty, J.S. Hobart, M. MartĂn-MartĂnez, K.A.
Sinclair, V.M. Slee, J. Agopian, C. Akin, I. Ălvarez-Twose, P.
Bonadonna, A.A. Bowman, K. Brockow, H. Bumbea, C. de
Haro, J.S. Fok, K. Hartmann, N. Hegmann, O. Hermine, M.
Kalisiak, C.H. Katelaris, J. Kurz, P. Marcis, D. Mayne, D.
Mendoza, A. Moussy, G. Mudretzkyj, N. Nidelea Vaia, M.
Niedoszytko, H. Oude Elberink, A. Orfao, D.H. Radia, S.
Rosenmeier, E. Ribada, W. Schinhofen, J. Schwaab, F. Siebenhaar, M. Triggiani, G. Tripodo, R. Velazquez, Y. Wielink, F Wimazal, T. Yigit, C. Zubrinich, and P. Valent
KIT mutation analysis in mast cell neoplasms: recommendations of the European Competence Network on Mastocytosis
Clinical evaluation of potential usefulness of serum lactate dehydrogenase (LDH) in 2019 novel coronavirus (COVID-19) pneumonia
De novo mast cell leukemia without CD25 expression and KIT mutations: a rare case report in a 13-year-old child
Prognostic implications of dynamic serum lactate dehydrogenase assessments in nasopharyngeal carcinoma patients treated with intensity-modulated radiotherapy
Genetic variation of the gene coding for microRNA-204 (miR-204) is a risk factor in acute myeloid leukaemia
Mast Cell Diseases in Practice and Research: Issues and Perspectives Raised by Patients and Their Recommendations to the Scientific Community and Beyond
Background: Since 2010, patients and physicians have collaborated to understand unmet needs of patients with mast cell diseases, incorporating mastocytosis and mast cell activation disorders, which include mast cell activation syndromes. Objective: This Open Innovation in Science project aims to expand understanding of the needs of patients affected by mast cell diseases, and encourage global communication among patient advocacy groups, physicians, researchers, industry, and government. A major aim is to support the scientific community's efforts to improve diagnosis, management, therapy, and patientsâ quality of life by addressing unmet needs. Methods: In collaboration with mast cell disease specialists, 13 patient advocacy groups from 12 countries and regions developed lists of top patient needs. A core team of leaders from patient advocacy groups collected and analyzed the data and proposed possible actions to address patient needs. Results: Findings identified similarities and differences among participating countries in unmet needs between patients with mastocytosis and those with mast cell activation syndromes. Issues emphasized struggles relating to the nature and rarity of mast cell diseases, their impact on quality of life, the diagnostic process, access to appropriate care, more effective treatment, and the need for research. Conclusions: Solutions vary across countries because situations differ, in particular regarding the existence of and access to centers of excellence and reference centers. Multifaceted mast cell activation syndrome barriers necessitate innovative approaches to improve access to appropriate care. The outcomes of this project should greatly support scientists and clinicians in their efforts to improve diagnosis, management, and treatment of patients with mastocytosis and mast cell activation disorders