Barriers to gene therapy, understanding the concerns people with haemophilia have: an exigency sub-study
Gene therapy has the potential to offer people with haemophilia (PwH) a life free from bleeding and the burden posed by current treatment regimens. To date, gene therapy has only been available in clinical tri... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - February 10, 2024 Category: Internal Medicine Authors: Simon Fletcher, Kathryn Jenner, Michael Holland and Kate Khair Tags: Research Source Type: research
An approach for state differentiation in nucleic acid circuits: Application to diagnostic DNA computing
Anal Chim Acta. 2024 Mar 15;1294:342266. doi: 10.1016/j.aca.2024.342266. Epub 2024 Jan 22.ABSTRACTBACKGROUND: Differentiating between different states in nucleic acid circuits is crucial for various biological applications. One approach, there is a requirement for complicated sequential summation, which can be excessive for practical purposes. By selectively labeling biologically significant states, this study tackles the issue and presents a more cost-effective and streamlined solution. The challenge is to efficiently distinguish between different states in a nucleic acid circuit.RESULTS: An innovative method is introduce...
Source: Analytica Chimica Acta - February 9, 2024 Category: Chemistry Authors: Hanie Tajadini Jeroen J L M Cornelissen Reza Zadegan Hadi Ravan Source Type: research
Portal vein thrombosis in a patient with severe hemophilia B: A challenging balanced management
We describe the case of a 43-year-old patient with severe hemophilia B (sHB) receiving prophylaxis with eftrenonacog alfa (rFIXFc) and antithrombotic treatment due to portal vein thrombosis. The patient was treated with extended half- life factor IX (EHL-FIX) prophylaxis maintaining higher trough levels to avoid new bleeding episodes associated to the underlying disease and the use of antithrombotic therapy with low molecular weight heparin. EHL-FIX concentrates allow prolonged intervals between intravenous infusions and higher hemost atic protection thanks to increased factor trough levels. This current case report provid...
Source: Clinical Case Reports - February 8, 2024 Category: General Medicine Authors: Olga Benitez ‐Hidalgo,
Milagros Suito Alcántara,
Maria Fernanda Martinez Garcia,
Desiree Campoy,
Pavel Olivera,
Mercedes Gironella Mesa,
Juan Carlos Juarez‐Gimenez Tags: CASE REPORT Source Type: research
Recapitulating the immune system of hemophilia A patients with inhibitors using immunodeficient mice
Treating hemophilia A patients who develop inhibitors remains a clinical challenge. A mouse model of hemophilia A can be used to test the efficacy of strategies for inhibitor suppression, but the differences in the immune systems of mice and humans limit its utility. To address this shortcoming, we established a humanized NOD/SCID-IL2r γnull hemophilia A (hu-NSG-HA) mouse model with a severely deficient mouse immune system presenting a patient's adapted immune cells. (Source: Thrombosis Research)
Source: Thrombosis Research - February 8, 2024 Category: Hematology Authors: Sheng-Chieh Chou, Ching-Tzu Yen, Yung-Li Yang, Shu-Huey Chen, Jiaan-Der Wang, Meng-Ni Fan, Li-Fu Chen, I-Shing Yu, Dong-Yan Tsai, Kuo-I Lin, Mi-Hua Tao, Jui-ching Wu, Shu-Wha Lin Source Type: research
Ultrasound evaluation of hemophilic arthropathy: a proposal of definitions in a changing landscape
Res Pract Thromb Haemost. 2024 Jan 3;8(1):102314. doi: 10.1016/j.rpth.2023.102314. eCollection 2024 Jan.ABSTRACTThe advent of novel effective treatments and the identification of the need to achieve a higher trough level for persons with hemophilia A and B have changed the landscape of management of these patients, allowing to change the target from survival and prevention of life-threatening complications to prevention of musculoskeletal complications and improvement of quality of life. Point-of-care musculoskeletal ultrasound imaging has also improved the early recognition of joint bleeding and the differential diagnosis...
Source: Thrombosis and Haemostasis - February 7, 2024 Category: Hematology Authors: Roberta Gualtierotti Luigi Piero Solimeno Flora Peyvandi Ultrasound in hemophilic arthropathy study group Source Type: research
Site-directed mutagenesis of tissue factor pathway inhibitor-binding exosite D60A on factor VII results in a new factor VII variant with lower coagulant activity
CONCLUSION: D60A demonstrated lower coagulant activities, most likely due to the weakening of FX binding, leading to impaired FX activation and delayed TG and fibrin formation. Considering that a plasma FVII level of 15% to 25% is adequate for normal hemostasis, D60A is a molecule of interest for future development of an rFVII with a lesser extent of thrombogenicity.PMID:38318153 | PMC:PMC10840347 | DOI:10.1016/j.rpth.2023.102309 (Source: Thrombosis and Haemostasis)
Source: Thrombosis and Haemostasis - February 6, 2024 Category: Hematology Authors: Karnsasin Seanoon Vorawat Kitiyanant Panwajee Payongsri Nongnuch Sirachainan Pantep Angchaisuksiri Ampaiwan Chuansumrit Suradej Hongeng Pansakorn Tanratana Source Type: research
Efficacy and Safety of Adeno-Associated Virus-Based Clinical Gene Therapy for Hemophilia: A Systematic Review and Meta-Analysis
Human Gene Therapy, Ahead of Print. (Source: Human Gene Therapy)
Source: Human Gene Therapy - February 5, 2024 Category: Genetics & Stem Cells Authors: Zeyu Han Xianyanling Yi Jin Li Dazhou Liao Guangping Gao Jianzhong Ai Source Type: research
Stromal cell ‐derived factor 1 alpha (SDF‐1alfa) and cartilage oligomeric matrix protein (COMP): Two potential signature biomarkers of radiological detectable hemophilic arthropathy
ConclusionTwo plasma biomarkers have been identified that could help assess the presence and severity of hemophilic arthropathy. (Source: International Journal of Rheumatic Diseases)
Source: International Journal of Rheumatic Diseases - February 5, 2024 Category: Rheumatology Authors: Alexandre Leuci,
M élanie Robert,
Laurie Josset,
Muriel Marano,
Philippe Connes,
Stéphanie Désage,
Sandrine Meunier,
Anne Lienhart,
Yesim Dargaud Tags: ORIGINAL ARTICLE Source Type: research
AAV mediated gene therapy for haemophilia B: From the early attempts to modern trials
Early gene therapy clinical trials for the treatment of Haemophilia B have been instrumental to our global understanding of gene therapy and have significantly contributed to the rapid expansion of the field. The use of adeno-associated viruses (AAVs) as vectors for gene transfer has successfully led to therapeutic expression of coagulation factor IX (FIX) in severe haemophilia B patients. Expression of FIX has remained stable following a single administration of vector for up to 8 years at levels that are clinically relevant to reduce the incidence of spontaneous bleeds and have permitted a significant change in the di...
Source: Thrombosis Research - February 4, 2024 Category: Hematology Authors: Vincent Muczynski, Amit C. Nathwani Source Type: research
Hemophilia A treatment innovation: factor VIII mimetic bispecific antibodies-generational enhancement
J Thromb Haemost. 2024 Feb;22(2):352-355. doi: 10.1016/j.jtha.2023.10.026.NO ABSTRACTPMID:38309809 | DOI:10.1016/j.jtha.2023.10.026 (Source: Thrombosis and Haemostasis)
Source: Thrombosis and Haemostasis - February 3, 2024 Category: Hematology Authors: David Lillicrap Peter Lenting Source Type: research
Reducing the risk of atherosclerotic cardiovascular disease in people with haemophilia, the importance of primary prevention
J Thromb Haemost. 2024 Feb 1:S1538-7836(24)00058-8. doi: 10.1016/j.jtha.2024.01.017. Online ahead of print.ABSTRACTRevolutionary advances in the treatment of haemophilia has led to a significant improvement in life expectancy. Associated with this has been an increase in age-related diseases especially atherosclerotic cardiovascular disease (CVD). While people with haemophilia (PWH) develop atherosclerosis at rates similar to the general population, rates of atherothrombosis and mortality related to CVD have been much lower, due to their hypocoagulable state. Changing treatment paradigms, aimed at reducing the risk of blee...
Source: Thrombosis and Haemostasis - February 3, 2024 Category: Hematology Authors: Caroline Dix Gerry Dolan Beverley J Hunt Source Type: research
Bleeding disorder of unknown cause & amp; unclassified bleeding disorders at US hemophilia treatment centers
Res Pract Thromb Haemost. 2023 Dec 9;8(1):102296. doi: 10.1016/j.rpth.2023.102296. eCollection 2024 Jan.NO ABSTRACTPMID:38292351 | PMC:PMC10824970 | DOI:10.1016/j.rpth.2023.102296 (Source: Thrombosis and Haemostasis)
Source: Thrombosis and Haemostasis - January 31, 2024 Category: Hematology Authors: Callie Berkowitz Kristi Kirkland Alice Ma Nigel S Key Source Type: research
Association of laboratory test results with the bleeding history in patients with inherited platelet function disorders (the Bleeding Assesment Tool - LABoratory tests substudy): communication from the Platelet Physiology ISTH-SSC
CONCLUSION: This study shows that altered platelet laboratory assay results are associated with an abnormal ISTH-BAT BS in IPFD.PMID:38292347 | PMC:PMC10825541 | DOI:10.1016/j.rpth.2023.102305 (Source: Thrombosis and Haemostasis)
Source: Thrombosis and Haemostasis - January 31, 2024 Category: Hematology Authors: Paolo Gresele Emanuela Falcinelli Loredana Bury Marie-Christine Alessi Giuseppe Guglielmini C éline Falaise Gianmarco Podda Mathieu Fiore Francesco Mazziotta Teresa Sevivas Nuria Bermejo Erica De Candia Meera Chitlur Michele P Lambert Luca Barcella Ana C Source Type: research
Pharmacokinetics and coagulation biomarkers in children and adults with hemophilia A receiving emicizumab prophylaxis every 1, 2, or 4 weeks
CONCLUSION: In HAVEN 1 to 4, emicizumab demonstrated sustained PKs and PDs and improved coagulation parameters without affecting safety biomarkers.PMID:38282901 | PMC:PMC10818085 | DOI:10.1016/j.rpth.2023.102306 (Source: Thrombosis and Haemostasis)
Source: Thrombosis and Haemostasis - January 29, 2024 Category: Hematology Authors: Anna Kiialainen Joanne I Adamkewicz Claire Petry Johannes Oldenburg Steven W Pipe Guy Young Johnny Mahlangu Michaela Lehle Markus Niggli Giancarlo Castaman V íctor Jiménez-Yuste Midori Shima Claude N égrier Christophe Schmitt Source Type: research
Hemophilia Healing with AAV: Navigating the Frontier of Gene Therapy
Curr Gene Ther. 2024 Jan 26. doi: 10.2174/0115665232279893231228065540. Online ahead of print.ABSTRACTGene therapy for hemophilia has advanced tremendously after thirty years of continual study and development. Advancements in medical science have facilitated attaining normal levels of Factor VIII (FVIII) or Factor IX (FIX) in individuals with haemophilia, thereby offering the potential for their complete recovery. Despite the notable advancements in various countries, there is significant scope for further enhancement in haemophilia gene therapy. Adeno-associated virus (AAV) currently serves as the primary vehicle for gen...
Source: Current Gene Therapy - January 29, 2024 Category: Genetics & Stem Cells Authors: Safir Ullah Khan Munir Ullah Khan Muhammad Suleman Amrah Inam Muhammad Azhar Ud Din Source Type: research
