Results 1 to 10 of about 13,283,976 (200)

Sustained Clinical Benefit of AAV Gene Therapy in Severe Hemophilia B. [PDF]

N Engl J Med
Summary We report the 13-year follow-up of gene therapy in 10 adults with severe hemophilia B. A single infusion of scAAV2/8-LP1-hFIXco at one of three dose levels resulted in stable transgenic factor IX activity (mean 1.7, 2.3 and 4.8 IU/dL) leading to ...
Reiss UM, Davidoff AM, Tuddenham EGD, Chowdary P, McIntosh J, Muczynski V, Journou M, Simini G, Ireland L, Mohamed S, Riddell A, Pie AJ, Hall A, Quaglia A, Mangles S, Mahlangu J, Haley K, Recht M, Shen YM, Halka KG, Fortner G, Morton CL, Gu Z, Hayden RT, Neufeld EJ, Okhomina VI, Kang G, Nathwani AC.   +27 more
europepmc   +2 more sources

CRISPR/Cas9-mediated knockin of human factor IX into swine factor IX locus effectively alleviates bleeding in hemophilia B pigs

Haematologica, 2020
Hemophilia B is an X-linked recessive bleeding disorder caused by abnormalities in the coagulation factor IX gene. Without prophylactic treatment, patients experience frequent spontaneous bleeding episodes.
Jiahuan Chen, Beiying An, Biao Yu, Xiaohuan Peng, Hongming Yuan, Qiangbing Yang, Xue Chen, Tingting Yu, Lingyu Wang, Xinwei Zhang, He Wang, Xiaodong Zou, Daxin Pang, Hongsheng Ouyang, Xiaochun Tang   +14 more
doaj   +2 more sources

Nine areas with outstanding challenges for hemophilia B research [PDF]

Therapeutic Advances in Hematology
Hemophilia A and B are rare, X-linked bleeding disorders characterized by deficiencies in coagulation factor VIII (FVIII) and factor IX (FIX), respectively. Numerous advances have helped to reduce disease burden.
Jan Astermark, Cédric Hermans, Peter J. Lenting, James S. O’Donnell,   +4 more
doaj   +2 more sources

Cardiac surgery in an infant hemophilia B carrier with moderate hemophilia: a case report [PDF]

Frontiers in Cardiovascular Medicine
IntroductionThis is the first reported case of a female infant with moderate hemophilia B undergoing complex cardiac surgery, highlighting challenges in managing bleeding disorders in this rare clinical setting.Patient concerns and clinical findingsA 4 ...
Julia Hölz, Chiara Nobile, Johannes Holzapfel, Victoria Lieftüchter, Nicole De Winkel, Martin Olivieri   +5 more
doaj   +2 more sources

Clinical, humanistic, and economic burden of severe hemophilia B in the United States: Results from the CHESS US and CHESS US+ population surveys

Orphanet Journal of Rare Diseases, 2021
Background Hemophilia B is a rare congenital bleeding disorder that has a significant negative impact on patients’ functionality and health-related quality of life.
Tom Burke, Sohaib Asghar, Jamie O’Hara, Eileen K. Sawyer, Nanxin Li   +4 more
doaj   +2 more sources

Hemophilia B

The bleeding disorder known as hemophilia B (HB) is caused by a deficiency or abnormality in the blood clotting factor IX (FIX) gene, which is inherited in an X-linked manner. This disease results from one of more than 1000 classified pathogenic variations in the FIX gene F9, and genetic missense and frameshift changes predominate.
Killeen RB, Rokkam VR.
europepmc   +3 more sources

Autologous and Heterologous Cell Therapy for Hemophilia B toward Functional Restoration of Factor IX

Cell Reports, 2018
Summary: Hemophilia B is an ideal target for gene- and cell-based therapies because of its monogenic nature and broad therapeutic index. Here, we demonstrate the use of cell therapy as a potential long-term cure for hemophilia B in our FIX-deficient ...
Suvasini Ramaswamy, Nina Tonnu, Tushar Menon, Benjamin M. Lewis, Kevin T. Green, Derek Wampler, Paul E. Monahan, Inder M. Verma   +7 more
doaj   +2 more sources

Assessing the health-state utility values of rare disease-hemophilia B using EQ-5D-5L: a study based on the Chinese population [PDF]

Orphanet Journal of Rare Diseases
Background Obtaining health-state utility values (HSUVs) aids in making scientific decisions in patient health management, especially for rare disease patients.
Chuchuan Wan, Haotao Li, Yulin Zhang, Qiqi Wang, Yiwen Huang, Tao Guan, Xiaoyu Xi   +6 more
doaj   +2 more sources

Gene Therapy with Etranacogene Dezaparvovec for Hemophilia B.

New England Journal of Medicine, 2023
BACKGROUND Moderate-to-severe hemophilia B is treated with lifelong, continuous coagulation factor IX replacement to prevent bleeding. Gene therapy for hemophilia B aims to establish sustained factor IX activity, thereby protecting against bleeding ...
S. Pipe, F. Leebeek, M. Recht, N. Key, G. Castaman, Wolfgang A. Miesbach, S. Lattimore, K. Peerlinck, P. R. van der Valk, M. Coppens, P. Kampmann, K. Meijer, Niamh O'Connell, K. Pasi, D. Hart, R. Kazmi, J. Astermark, C. Hermans, R. Klamroth, Richard W. Lemons, N. Visweshwar, Annette von Drygalski, G. Young, S. Crary, M. Escobar, E. Gomez, R. Kruse-Jarres, D. Quon, E. Symington, Michael Wang, Allison P. Wheeler, R. Gut, Yinyin Liu, R. Dolmetsch, D. Cooper, Yanyan Li, B. Goldstein, P. Monahan   +37 more
semanticscholar   +1 more source

Medical costs and hospital utilization for hemophilia A and B urban inpatients in China: a national cross-sectional study

BMC Health Services Research, 2022
Background Hemophilia care in mainland China has been greatly improved since the establishment of the Hemophilia Treatment Center Collaborative Network of China (HTCCNC), and most of drugs for hemophilia have been covered by basic medical insurance ...
Zhengwei Huang, Stephen Nicholas, Yong Yang, Xiaoping Chen, Elizabeth Maitland, Yong Ma, Xuefeng Shi   +6 more
doaj   +1 more source