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Hemophilia B

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https://www.readbyqxmd.com/read/28335488/italian-registry-of-congenital-bleeding-disorders
#1
Adele Giampaolo, Francesca Abbonizio, Romano Arcieri, Hamisa Jane Hassan
In Italy, the surveillance of people with bleeding disorders is based on the National Registry of Congenital Coagulopathies (NRCC) managed by the Italian National Institute of Health (Istituto Superiore di Sanità). The NRCC collects epidemiological and therapeutic data from the 54 Hemophilia Treatment Centers, members of the Italian Association of Hemophilia Centres (AICE). The number of people identified with bleeding disorders has increased over the years, with the number rising from approx. 7000 in 2000 to over 11,000 in 2015...
March 19, 2017: Journal of Clinical Medicine
https://www.readbyqxmd.com/read/28323492/regulatory-and-exhausted-t-cell-responses-to-aav-capsid
#2
Gwladys Gernoux, James M Wilson, Christian Mueller
Recombinant adeno-associated viruses are quickly becoming the preferred viral vector for viral gene delivery for the treatment of a wide variety of genetic disorders. However, since their use in a clinical trial targeting Hemophilia B patients 10 years ago, immune responses to AAV capsid appear to have hampered some of the early clinical gene transfer efficacy. Indeed, AAV-based gene transfer has been shown to reactivate capsid-specific memory T cells which have correlated with a decline in AAV transduced tissue in some patients...
March 21, 2017: Human Gene Therapy
https://www.readbyqxmd.com/read/28319449/non-clinical-study-examining-aav8-tbg-hldlr-vector-associated-toxicity-in-chow-fed-wild-type-and-ldlr-rhesus-macaques
#3
Jenny A Greig, Maria P Limberis, Peter Bell, Shu-Jen Chen, Roberto Calcedo, Daniel J Rader, James M Wilson
Vectors based on adeno-associated virus serotype 8 (AAV8) have been evaluated in several clinical trials of gene therapy for hemophilia B with encouraging results. In preparation for a Phase 1 clinical trial of AAV8 gene therapy for the treatment of homozygous familial hypercholesterolemia (HoFH), the safety of the clinical candidate vector, AAV8.TBG.hLDLR, was evaluated in wild-type rhesus macaques and macaques heterozygous for a nonsense mutation in the low-density lipoprotein receptor (LDLR) gene (LDLR(+/-))...
March 2017: Human Gene Therapy. Clinical Development
https://www.readbyqxmd.com/read/28319338/management-of-us-men-women-and-children-with-hemophilia-and-methods-and-demographics-of-the-bridging-hemophilia-b-experiences-results-and-opportunities-into-solutions-b-hero-s-study
#4
Tyler W Buckner, Michelle Witkop, Christine Guelcher, Mary Jane Frey, Susan Hunter, Skye Peltier, Michael Recht, Christopher Walsh, Craig M Kessler, Wendy Owens, David B Clark, Neil Frick, Michelle Rice, Neeraj N Iyer, Natalia Holot, David L Cooper, Robert Sidonio
The Bridging Hemophilia B Experiences, Results and Opportunities Into Solutions (B-HERO-S) initiative was launched in an effort to address specific gaps in the understanding of the psychosocial impact of mild-moderate-severe hemophilia B. The original Hemophilia Experiences, Results and Opportunities (HERO) qualitative study evaluated the needs of people with hemophilia A or B in multiple countries; however, a majority of participants had the more common moderate-severe hemophilia A. The B-HERO-S study was designed in collaboration with the hemophilia community to evaluate the needs of adults with hemophilia B and caregivers of children with hemophilia B, including affected women and caregivers of girls with hemophilia...
April 2017: European Journal of Haematology
https://www.readbyqxmd.com/read/28319337/impact-of-mild-to-severe-hemophilia-on-education-and-work-by-us-men-women-and-caregivers-of-children-with-hemophilia-b-the-bridging-hemophilia-b-experiences-results-and-opportunities-into-solutions-b-hero-s-study
#5
Susan Cutter, Don Molter, Spencer Dunn, Susan Hunter, Skye Peltier, Kimberly Haugstad, Neil Frick, Natalia Holot, David L Cooper
The psychosocial impact of hemophilia on work was recently investigated in the Hemophilia Experiences, Results and Opportunities (HERO) study. The findings revealed that hemophilia had an impact for adults with moderate/severe hemophilia and caregivers of children with hemophilia. HERO did not specifically evaluate impact on education in adults/children with mild/moderate hemophilia or the impact on employment of spouses/partners of caregivers of affected children. The Bridging Hemophilia B Experiences, Results and Opportunities into Solutions (B-HERO-S) study evaluated the impact of hemophilia on the lives of adult men/women with mild-severe hemophilia B and caregivers of boys/girls with hemophilia B and their spouses/partners...
April 2017: European Journal of Haematology
https://www.readbyqxmd.com/read/28319336/impact-of-mild-to-severe-hemophilia-on-engagement-in-recreational-activities-by-us-men-women-and-children-with-hemophilia-b-the-bridging-hemophilia-b-experiences-results-and-opportunities-into-solutions-b-hero-s-study
#6
Kimberly Baumann, Grace Hernandez, Michelle Witkop, Skye Peltier, Spencer Dunn, Susan Cutter, Neil Frick, Kimberly Haugstad, Christine Guelcher, Mary Jane Frey, Dawn Rotellini, David B Clark, Neeraj N Iyer, David L Cooper
The psychosocial impact of hemophilia on activities was recently investigated in the Hemophilia Experiences, Results and Opportunities (HERO) study (675 people with hemophilia and 561 caregivers of children with hemophilia in 10 countries). The impact of hemophilia B may not be accurately reflected in the HERO results, as ~75% of respondents described issues affecting males with hemophilia A. To address the needs of this population, the Bridging Hemophilia B Experiences, Results and Opportunities Into Solutions (B-HERO-S) was developed as a pilot study in the United States in collaboration with the hemophilia community...
April 2017: European Journal of Haematology
https://www.readbyqxmd.com/read/28319335/evaluating-the-psychosocial-impact-of-hemophilia-b-the-bridging-hemophilia-b-experiences-results-and-opportunities-into-solutions-b-hero-s-study
#7
Robert Sidonio, Natalia Holot, David L Cooper
The needs of individuals living with hemophilia B, especially those with mild or moderate hemophilia and affected females, are not well understood. The Bridging Hemophilia B Experiences, Results and Opportunities into Solutions (B-HERO-S) initiative was developed in an effort to obtain greater insights into the unique issues and challenges faced by those with hemophilia B. This study explored the impact of hemophilia B on education, employment, engagement in physical activities and other psychosocial aspects of the lives of affected individuals and their families...
April 2017: European Journal of Haematology
https://www.readbyqxmd.com/read/28318036/autophagy-determines-efficiency-of-liver-directed-gene-therapy-with-adeno-associated-viral-vectors
#8
Marianna Hösel, Anke Huber, Susanne Bohlen, Julie Lucifora, Giuseppe Ronzitti, Francesco Puzzo, Florence Boisgerault, Ulrich T Hacker, Wilhelmus J Kwanten, Nora Klöting, Matthias Blüher, Alexander Gluschko, Michael Schramm, Olaf Utermöhlen, Wilhelm Bloch, Federico Mingozzi, Oleg Krut, Hildegard Büning
Use of Adeno-associated viral (AAV) vectors for liver-directed gene therapy has shown considerable success, particularly in patients with severe hemophilia B. However, the high vector doses required to reach therapeutic levels of transgene expression caused liver inflammation in some patients that selectively destroyed transduced hepatocytes. We hypothesized that such detrimental immune responses can be avoided by enhancing the efficacy of AAV vectors in hepatocytes. Because autophagy is a key liver response to environmental stresses, we characterized the impact of hepatic autophagy on AAV infection...
March 20, 2017: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
https://www.readbyqxmd.com/read/28296129/comparing-thrombin-generation-in-patients-with-hemophilia-a-and-patients-on-vitamin-k-antagonists
#9
M L Y de Koning, K Fischer, B de Laat, A Huisman, M Ninivaggi, R E G Schutgens
BACKGROUND: It is unknown whether patients with hemophilia A with atrial fibrillation require treatment with vitamin K antagonists (VKA) to the same extent as the normal population. OBJECTIVE: To compare hemostatic potential in hemophilia patients and patients on VKA using thrombin generation (TG). METHODS: In this cross-sectional study, TG, initiated with 1pM tissue factor, was measured in 133 patients with severe (FVIII <1%, n=15) and non-severe (FVIII 1-50%, n=118) hemophilia A, 97 patients on VKA with an international normalized ratio (INR) ≥1...
March 15, 2017: Journal of Thrombosis and Haemostasis: JTH
https://www.readbyqxmd.com/read/28277160/production-of-recombinant-coagulation-factors-are-humans-the-best-host-cells
#10
Kamilla Swiech, Virgínia Picanço-Castro, Dimas Tadeu Covas
The main treatment option for Hemophilia A/B patients involves the administration of recombinant coagulation factors on-demand or in a prophylactic approach. Despite the safety and efficacy of this replacement therapy, the development of antibodies against the coagulation factor infused, which neutralize the procoagulant activity, is a severe complication. The production of recombinant coagulation factors in human cell lines is an efficient approach to avoid such complication. Human cell lines can produce recombinant proteins with post translation modifications more similar to their natural counterpart, reducing potential immunogenic reactions...
February 23, 2017: Bioengineered
https://www.readbyqxmd.com/read/28270892/molecular-analysis-of-factor-viii-and-factor-ix-genes-in-hemophilia-patients-identification-of-novel-mutations-and-molecular-dynamics-studies
#11
Faisal A Al-Allaf, Mohiuddin M Taher, Zainularifeen Abduljaleel, Abdellatif Bouazzaoui, Mohammed Athar, Neda M Bogari, Halah A Abalkhail, Tarek Ma Owaidah
BACKGROUND: Hemophilias A and B are X-linked bleeding disorders caused by mutations in the factor VIII and factor IX genes, respectively. Our objective was to identify the spectrum of mutations of the factor VIII and factor IX genes in Saudi Arabian population and determine the genotype and phenotype correlations by molecular dynamics (MD) simulation. METHODS: For genotyping, blood samples from Saudi Arabian patients were collected, and the genomic DNA was amplified, and then sequenced by Sanger method...
April 2017: Journal of Clinical Medicine Research
https://www.readbyqxmd.com/read/28256747/elbasvir-grazoprevir-for-patients-with-hepatitis-c-virus-infection-and-inherited-blood-disorders-a-phase-iii-study
#12
Christophe Hézode, Massimo Colombo, Marc Bourlière, Ulrich Spengler, Ziv Ben-Ari, Simone I Strasser, William M Lee, Leslie Morgan, Jingjun Qiu, Peggy Hwang, Michael Robertson, Bach-Yen Nguyen, Eliav Barr, Janice Wahl, Barbara Haber, Robert Chase, Rohit Talwani, Vito Di Marco
Direct-acting antiviral agents have not been studied exclusively in patients with inherited blood disorders and hepatitis C virus (HCV) infection. The objective of the randomized, placebo-controlled, phase III C-EDGE IBLD study was to assess the safety and efficacy of elbasvir/grazoprevir (EBR/GZR) in patients with inherited bleeding disorders and HCV infection. One hundred fifty-nine adults with HCV infection and sickle cell anemia, thalassemia, or hemophilia A/B or von Willebrand disease were enrolled at 31 study sites in the United States, Europe, Australia, Canada, Israel, and Thailand...
March 3, 2017: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
https://www.readbyqxmd.com/read/28243977/recent-advances-in-hemophilia-b-therapy
#13
REVIEW
Sarena D Horava, Nicholas A Peppas
Hemophilia B is a hereditary bleeding disorder caused by the deficiency in coagulation factor IX. Understanding coagulation and the role of factor IX as well as patient population and diagnosis are all critical factors in developing treatment strategies and regimens for hemophilia B patients. Current treatment options rely on protein replacement therapy by intravenous injection, which have markedly improved patient lifespan and quality of life. However, issues with current options include lack of patient compliance due to needle-based administration, high expenses, and potential other complications (e...
February 27, 2017: Drug Delivery and Translational Research
https://www.readbyqxmd.com/read/28238287/genome-editing-for-inborn-errors-of-metabolism-advancing-towards-the-clinic
#14
REVIEW
Jessica L Schneller, Ciaran M Lee, Gang Bao, Charles P Venditti
Inborn errors of metabolism (IEM) include many disorders for which current treatments aim to ameliorate disease manifestations, but are not curative. Advances in the field of genome editing have recently resulted in the in vivo correction of murine models of IEM. Site-specific endonucleases, such as zinc-finger nucleases and the CRISPR/Cas9 system, in combination with delivery vectors engineered to target disease tissue, have enabled correction of mutations in disease models of hemophilia B, hereditary tyrosinemia type I, ornithine transcarbamylase deficiency, and lysosomal storage disorders...
February 27, 2017: BMC Medicine
https://www.readbyqxmd.com/read/28222949/rare-bleeding-disorders-old-diseases-in-the-era-of-novel-options-for-therapy
#15
Tami Livnat, Assaf Arie Barg, Sarina Levy-Mendelovich, Gili Kenet
Rare diseases are defined as life-threatening or chronically debilitating diseases with a prevalence of less than one per 2000 according to the European Union or one per 1250 according to the USA. Congenital rare bleeding disorders RBD are reported in most populations, with incidence varying from 1 in 5000 (Hemophilia A), 1:30,000 (Hemophilia B) to much rarer (1:500,000 for FVII deficiency, 1-3 million for Prothrombin or FXIII deficiency). Acquired Hemophilia A is also a rare bleeding disorder with estimated frequency of 1 in million...
February 14, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28202865/repeated-diffuse-alveolar-hemorrhage-in-a-patient-with-hemophilia-b
#16
Hajime Kasai, Jiro Terada, Hiromasa Hoshi, Takashi Urushibara, Fumiaki Kato, Rintaro Nishimura, Koichiro Tatsumi
Diffuse alveolar hemorrhage (DAH) is a life-threatening complication that occurs in association with various diseases including coagulation disorders. In rare cases, it is caused by hemophilia. A 48-year-old man was admitted to our hospital for a third time due to DAH. Although the cause of DAH could not be identified by bronchoscopy or laboratory tests, a good response to corticosteroids suggested idiopathic DAH with pulmonary capillaritis. The patient was diagnosed with hemophilia B based on the results of a detailed inquiry, a mildly prolonged activated partial thromboplastin time, and low factor IX activity...
2017: Internal Medicine
https://www.readbyqxmd.com/read/28202722/systemic-delivery-of-factor-ix-messenger-rna-for-protein-replacement-therapy
#17
Suvasini Ramaswamy, Nina Tonnu, Kiyoshi Tachikawa, Pattraranee Limphong, Jerel B Vega, Priya P Karmali, Pad Chivukula, Inder M Verma
Safe and efficient delivery of messenger RNAs for protein replacement therapies offers great promise but remains challenging. In this report, we demonstrate systemic, in vivo, nonviral mRNA delivery through lipid nanoparticles (LNPs) to treat a Factor IX (FIX)-deficient mouse model of hemophilia B. Delivery of human FIX (hFIX) mRNA encapsulated in our LUNAR LNPs results in a rapid pulse of FIX protein (within 4-6 h) that remains stable for up to 4-6 d and is therapeutically effective, like the recombinant human factor IX protein (rhFIX) that is the current standard of care...
March 7, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28196793/specific-factor-ix-mrna-and-protein-features-favor-drug-induced-readthrough-over-recurrent-nonsense-mutations
#18
Alessio Branchini, Mattia Ferrarese, Matteo Campioni, Giancarlo Castaman, Rosella Mari, Francesco Bernardi, Mirko Pinotti
Drug-induced readthrough over premature stop codons (PTCs) is a potentially attractive therapy for genetic disorders but a wide outcome variability has been observed. Through expression studies we investigated the responsiveness to the readthrough-inducing drug geneticin of eleven rationally-selected factor IX (FIX) nonsense mutations, present in 70% (324/469) of Hemophilia B (HB) patients with PTCs. Among the predicted readthrough-permissive TGA variants, only two (p.W240X, p.R384X) responded with a remarkable rescue of FIX activity...
February 14, 2017: Blood
https://www.readbyqxmd.com/read/28168417/first-case-report-of-hemophilia-b-leyden-in-japan
#19
Atsuki Yamashita, Chiai Nagae, Mika Mori, Tomoko Ashikaga, Tetsuhito Kojima, Masashi Taki
Hemophilia B Leyden is a unique subtype of hemophilia B, characterized by increasing factor IX activity (FIX:C) after puberty and a lower normal range of FIX:C throughout adulthood. However, to date, no Japanese case has been reported. Here, we report a case of hemophilia B Leyden in a 22-year-old male. He suffered from subgaleal hematoma, and was subsequently diagnosed with hemophilia B (FIX:C 0.2%) in the neonatal period. Both his parents are Japanese. There was no history of hemophilia in his family. FIX:C gradually increased with age (8% at age = 1; 14% at age = 7; 19% at age = 12; 32% at age = 18)...
February 7, 2017: International Journal of Hematology
https://www.readbyqxmd.com/read/28166648/characteristics-of-minimally-oversized-adeno-associated-virus-vectors-encoding-human-factor-viii-generated-using-producer-cell-lines-and-triple-transfection
#20
Bindu Nambiar, Cathleen Cornell Sookdeo, Patricia Berthelette, Robert Jackson, Susan Piraino, Brenda Burnham, Shelley Nass, David Souza, Catherine R O'Riordan, Karen A Vincent, Seng H Cheng, Donna Armentano, Sirkka Kyostio-Moore
Several ongoing clinical studies are evaluating recombinant adeno-associated virus (rAAV) vectors as gene delivery vehicles for a variety of diseases. However, the production of vectors with genomes >4.7 kb is challenging, with vector preparations frequently containing truncated genomes. To determine whether the generation of oversized rAAVs can be improved using a producer cell-line (PCL) process, HeLaS3-cell lines harboring either a 5.1 or 5.4 kb rAAV vector genome encoding codon-optimized cDNA for human B-domain deleted Factor VIII (FVIII) were isolated...
February 2017: Human Gene Therapy Methods
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