The International Hereditary Thrombotic Thrombocytopenic Purpura Registry: key findings at enrollment until 2017.


Journal

Haematologica
ISSN: 1592-8721
Titre abrégé: Haematologica
Pays: Italy
ID NLM: 0417435

Informations de publication

Date de publication:
10 2019
Historique:
received: 16 01 2019
accepted: 20 02 2019
pubmed: 23 2 2019
medline: 8 7 2020
entrez: 23 2 2019
Statut: ppublish

Résumé

Congenital thrombotic thrombocytopenic purpura is an autosomal recessive inherited disease with a clinically heterogeneous course and an incompletely understood genotype-phenotype correlation. In 2006, the Hereditary TTP Registry started recruitment for a study which aimed to improve the understanding of this ultra-rare disease. The objective of this study is to present characteristics of the cohort until the end of 2017 and to explore the relationship between overt disease onset and ADAMTS13 activity with emphasis on the recurring

Identifiants

pubmed: 30792199
pii: haematol.2019.216796
doi: 10.3324/haematol.2019.216796
pmc: PMC6886414
doi:

Substances chimiques

ADAMTS13 Protein EC 3.4.24.87
ADAMTS13 protein, human EC 3.4.24.87

Banques de données

ClinicalTrials.gov
['NCT01257269']

Types de publication

Clinical Trial Journal Article Multicenter Study Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

2107-2115

Subventions

Organisme : NHLBI NIH HHS
ID : K01 HL135466
Pays : United States

Commentaires et corrections

Type : CommentIn

Informations de copyright

Copyright© 2019 Ferrata Storti Foundation.

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Auteurs

Hendrika A van Dorland (HA)

Department of Hematology and Central Hematology Laboratory, Inselspital, Bern University Hospital, Bern, Switzerland.
Department for BioMedical Research, University of Bern, Bern, Switzerland.

Magnus Mansouri Taleghani (MM)

Department of Hematology and Central Hematology Laboratory, Inselspital, Bern University Hospital, Bern, Switzerland.

Kazuya Sakai (K)

Department of Blood Transfusion Medicine, Nara Medical University, Kashihara, Japan.

Kenneth D Friedman (KD)

Division of Hematology and Oncology, Medical College of Wisconsin, Milwaukee, WI, USA.

James N George (JN)

Department of Biostatistics Epidemiology, University of Oklahoma Health Sciences Center, Oklahoma City, OK, USA.

Ingrid Hrachovinova (I)

NRL for Hemostasis, Institute of Hematology and Blood Transfusion, Prague, Czech Republic.

Paul N Knöbl (PN)

Division of Hematology and Hemostasis, Department of Medicine 1, Medical University of Vienna, Austria.

Anne Sophie von Krogh (AS)

Department of Hematology, St Olavs Hospital, Trondheim University Hospital, Trondheim, Norway.

Reinhard Schneppenheim (R)

Department of Paediatric Haematology and Oncology, University Medical Centre Hamburg-Eppendorf, Hamburg, Germany.

Isabella Aebi-Huber (I)

Department of Hematology and Central Hematology Laboratory, Inselspital, Bern University Hospital, Bern, Switzerland.
Department for BioMedical Research, University of Bern, Bern, Switzerland.

Lukas Bütikofer (L)

CTU Bern, University of Bern, Bern, Switzerland.

Carlo R Largiadèr (CR)

University Institute of Clinical Chemistry, Inselspital, Bern University Hospital, Bern, Switzerland.

Zuzana Cermakova (Z)

Blood Center, University Hospital Ostrava, Ostrava, Czech Republic.

Koichi Kokame (K)

Department of Molecular Pathogenesis, National Cerebral and Cardiovascular Center, Suita, Japan.

Toshiyuki Miyata (T)

Department of Molecular Pathogenesis, National Cerebral and Cardiovascular Center, Suita, Japan.
Department of Cerebrovascular Medicine, National Cerebral and Cardiovascular Center, Suita, Japan.

Hideo Yagi (H)

Department of Blood Transfusion Medicine, Nara Medical University, Kashihara, Japan.
Department of Hematology, Nara Prefecture General Medical Center, Nara, Japan.

Deirdra R Terrell (DR)

Department of Biostatistics Epidemiology, University of Oklahoma Health Sciences Center, Oklahoma City, OK, USA.

Sara K Vesely (SK)

Department of Biostatistics Epidemiology, University of Oklahoma Health Sciences Center, Oklahoma City, OK, USA.

Masanori Matsumoto (M)

Department of Blood Transfusion Medicine, Nara Medical University, Kashihara, Japan.

Bernhard Lämmle (B)

Department of Hematology and Central Hematology Laboratory, Inselspital, Bern University Hospital, Bern, Switzerland.
Center for Thrombosis and Hemostasis, University Medical Center Mainz, Mainz, Germany.

Yoshihiro Fujimura (Y)

Department of Blood Transfusion Medicine, Nara Medical University, Kashihara, Japan.
Japanese Red Cross Kinki Block Blood Center, Ibaraki, Osaka, Japan.

Johanna A Kremer Hovinga (JA)

Department of Hematology and Central Hematology Laboratory, Inselspital, Bern University Hospital, Bern, Switzerland johanna.kremer@msel.ch.
Department for BioMedical Research, University of Bern, Bern, Switzerland.

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