Results 11 to 20 of about 301,643 (264)

Adeno‐associated virus serotype 2 capsid variants for improved liver‐directed gene therapy

Hepatology, EarlyView., 2022
Abstract Background and Aims Current liver‐directed gene therapies look for adeno‐associated virus (AAV) vectors with improved efficacy. With this background, capsid engineering is explored. Whereas shuffled capsid library screenings have resulted in potent liver targeting variants with one first vector in human clinical trials, modifying natural ...
Nadja Meumann, Marti Cabanes‐Creus, Moritz Ertelt, Renina Gale Navarro, Julie Lucifora, Qinggong Yuan, Karin Nien‐Huber, Ahmed Abdelrahman, Xuan‐Khang Vu, Liang Zhang, Ann‐Christin Franke, Christian Schmithals, Albrecht Piiper, Annabelle Vogt, Maria Gonzalez‐Carmona, Jochen T. Frueh, Evelyn Ullrich, Philip Meuleman, Steven R. Talbot, Margarete Odenthal, Michael Ott, Erhard Seifried, Clara T. Schoeder, Joachim Schwäble, Leszek Lisowski, Hildegard Büning   +25 more
wiley   +1 more source

Phase III dose selection of marzeptacog alfa (activated) informed by population pharmacokinetic modeling: A novel hemostatic drug

CPT: Pharmacometrics &Systems Pharmacology, Volume 11, Issue 12, Page 1628-1637, December 2022., 2022
Abstract Marzeptacog alfa (activated) (MarzAA) is an activated recombinant human FVII (rFVIIa) variant developed as subcutaneous (s.c.) administration for the treatment or prevention of bleeding episodes in patients with hemophilia A (HA) or hemophilia B (HB) with inhibitors and other rare bleeding disorders.
Alan Faraj, Tom Knudsen, Shraddha Desai, Linda Neuman, Grant E. Blouse, Ulrika S. H. Simonsson   +5 more
wiley   +1 more source

CRISPR applications for Duchenne muscular dystrophy: From animal models to potential therapies

WIREs Mechanisms of Disease, Volume 15, Issue 1, January/February 2023., 2023
CRISPR‐Cas9 gene‐editing technology enables the rapid generation of animal models for Duchenne muscular dystrophy research and has potential to be developed as CRISPR therapy for the long lasting genetic correction of causal mutations. Abstract CRISPR gene‐editing technology creates precise and permanent modifications to DNA.
Yu C. J. Chey, Jayshen Arudkumar, Annemieke Aartsma‐Rus, Fatwa Adikusuma, Paul Q. Thomas   +4 more
wiley   +1 more source

Clinical, instrumental, serological and histological findings suggest that hemophilia B may be less severe than hemophilia A

Haematologica, 2016
Recent evidence suggests that patients with severe hemophilia B may have a less severe disease compared to severe hemophilia A. To investigate clinical, radiological, laboratory and histological differences in the arthropathy of severe hemophilia A and ...
Daniela Melchiorre, Silvia Linari, Mirko Manetti, Eloisa Romano, Francesco Sofi, Marco Matucci-Cerinic, Christian Carulli, Massimo Innocenti, Lidia Ibba-Manneschi, Giancarlo Castaman   +9 more
doaj   +1 more source

Efficacy and safety in patients with haemophilia A switching to octocog alfa (BAY 81–8973): Final results of the global real‐world study, TAURUS

European Journal of Haematology, Volume 110, Issue 1, Page 77-87, January 2023., 2023
Abstract Objectives To report the final results of the 2‐year TAURUS study, assessing weekly prophylaxis dosing regimens of octocog alfa (Kovaltry®/BAY 81–8973) used in standard clinical practice in patients with moderate‐to‐severe haemophilia A. Methods TAURUS (NCT02830477) is a phase 4, multinational, prospective, non‐interventional, single‐arm study
Cristina Santoro, Beng Fuh, Phu Quoc Le, Philip Maes, Rubén Berrueco, Eva Maria Mingot‐Castellano, Sylvia von Mackensen, Claudia Tueckmantel, Jose Francisco Cabre‐Marquez, Michael Wang   +9 more
wiley   +1 more source

MOLECULAR MECHANISMS OF INHIBITOR DEVELOPMENT IN HEMOPHILIA

Mediterranean Journal of Hematology and Infectious Diseases, 2020
The development of neutralizing antibodies in hemophilia is a serious complication of factor replacement therapy. These antibodies, also known as “inhibitors”, significantly increase morbidity within the hemophilia population and lower the quality of ...
Davide Matino, Paul Tieu, Dr., Antony Chan   +2 more
doaj   +1 more source

Identification and Genetic Analysis of a Factor IX Gene Intron 3 Mutation in a Hemophilia B Pedigree in China

Turkish Journal of Hematology, 2014
OBJECTIVE: Hemophilia B is caused by coagulation defects in the factor IX gene located in Xq27.1 on the X chromosome. A wide range of mutations, showing extensive molecular heterogeneity, have been described in hemophilia B patients.
Dong Hua Cao, Xiao Li Liu, Kai Mu, Xiang Wei Ma, Jing Li Sun, Xiao Zhong Bai, Chang Kun Lin, Chun Lian Jin   +7 more
doaj   +1 more source

A Case of Hemophilia B with Abdominal and Pelvic Pseudotumor

罕见病研究, 2022
Hemophilia B is a genetic disorder caused by coagulation factor Ⅸ(FⅨ) deficiency, mainly manifesting as joint, muscle and deep tissue bleeding. Hemophilia pseudotumor is a mass formed by soft tissue liquefaction and necrosis caused by repeated bleeding ...
ZHANG Jing, JU Mankai, ZHANG Kemin, CHEN Lingling, WANG Yuhua, ZHANG Lei, YANG Renchi, XUE Feng   +7 more
doaj   +1 more source

Cochlear implantation in hemophilia B—a rare case report

The Egyptian Journal of Otolaryngology, 2022
Background Hemophilia B is an X-linked inherited disease, mainly caused by deficiency of factor IX. Severity of the disease is manifested by the factor IX deficiency in the blood.
Chetan Yadav, Diva Sharma, Neeraj Suri, Meenesh Juvekar   +3 more
doaj   +1 more source

Neonatal Gene Therapy for Hemophilia B by a Novel Adenovirus Vector Showing Reduced Leaky Expression of Viral Genes

Molecular Therapy: Methods & Clinical Development, 2017
Gene therapy during neonatal and infant stages is a promising approach for hemophilia B, a congenital disorder caused by deficiency of blood coagulation factor IX (FIX).
Shunsuke Iizuka, Fuminori Sakurai, Masashi Tachibana, Kazuo Ohashi, Hiroyuki Mizuguchi   +4 more
doaj   +1 more source