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1.
Complement Ther Clin Pract ; 45: 101486, 2021 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-34601386

RESUMO

BACKGROUND AND PURPOSE: Pain is a common condition among people with hemophilia (PWH), negatively impacting quality of life. However, effective treatment remains a challenge. This two-arm, parallel randomized controlled pilot trial aimed to examine the three-month effects of hypnosis intervention on clinical and psychosocial variables, and on the inflammatory profile of PWH. MATERIALS AND METHODS: The study was conducted between January and October 2018, in a Reference Center for Congenital Coagulopathies. Adult (age ≥18) patients were randomized to experimental group (EG) or control group (CG). The EG received four weekly hypnosis sessions plus treatment-as-usual, and the CG maintained treatment-as-usual only. Outcomes were evaluated at one week and three months post-intervention and included pain, joint status, health-related quality of life (HRQoL), emotional state and inflammatory profile (leukocytes, C-reactive protein, cytokines). The randomization sequence was computer-generated, and allocation was concealed until enrolment. The outcome assessor was blind to allocation, but blinding of the participants was not possible due to the differences in procedure. RESULTS: Twenty patients were randomized to EG (n = 10; 8 analyzed) or CG (n = 10; 10 analyzed). Two-way mixed ANOVA showed significant time × group interactions on pain interference with normal work and with relations with other people, and on perception of health status. The EG significantly improved in pain interference with normal work and perception of health status. There was no report of harm. CONCLUSION: Hypnosis may be a promising intervention to manage hemophilia-related pain and promote HRQoL, with benefits lasting up to three months.


Assuntos
Hemofilia A , Hipnose , Adulto , Hemofilia A/terapia , Humanos , Dor/etiologia , Projetos Piloto , Qualidade de Vida
2.
Inquiry ; 58: 469580211047752, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34666532

RESUMO

Digitalization of health care and the availability of suitable end devices lead to an increase in the use of telehealth applications. Most research on telehealth focuses on patients or organizations (like hospitals), while the role of physicians in this context is often neglected. In case of serious and chronic diseases, they play two major roles in the use of telehealth. Firstly, they may influence the patient's decision whether to use it at all (if more than one option is available, they may also influence the patient's choice of software). Secondly, if there is a need for a physicians' participation (eg, in telecare), an adoption decision by the physician to use the system is necessary. We develop a model to understand a physician's motivations to recommend the use of telehealth software to patients and to adopt it himself. The results demonstrate that physicians recommend telehealth based on their own use intention and the perceived performance improvements in patient treatment. Further, their own use intention is dependent on the usefulness of the system for their work. Potential disadvantages like decreased patient autonomy or cost of the system use do not influence the physician's decisions.


Assuntos
Hemofilia A , Medicina , Médicos , Hemofilia A/terapia , Humanos , Motivação , Relações Médico-Paciente , Software
3.
Rev Infirm ; 70(274): 42-44, 2021 Oct.
Artigo em Francês | MEDLINE | ID: mdl-34565538

RESUMO

Recent therapeutic innovations are significantly changing the management of young children with severe haemophilia. A team from the University Hospital of Nice (06) introduced emicizumab, the first subcutaneous non-replacement therapy. Integrated into the multi-professional management of children and their families, this innovative therapeutic option has shown encouraging initial results. Experience sharing.


Assuntos
Hemofilia A , Criança , Pré-Escolar , Hemofilia A/terapia , Humanos
4.
Science ; 374(6563): 40-41, 2021 10.
Artigo em Inglês | MEDLINE | ID: mdl-34591611
5.
Haemophilia ; 27(6): 957-966, 2021 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-34472162

RESUMO

OBJECTIVES: The aim of the Patient preferences to Assess Value IN Gene therapies (PAVING) study was to investigate trade-offs that adult Belgian people with haemophilia (PWH) A and B are willing to make when choosing between prophylactic factor replacement therapy (PFRT) and gene therapy. METHODS: The threshold technique was used to quantify the minimum acceptable benefit (MAB) of a switch from PFRT to gene therapy in terms of 'Annual bleeding rate' (ABR), 'Chance to stop prophylaxis' (STOP), and 'Quality of life' (QOL). The design was supported by stakeholder involvement and included an educational tool on gene therapy. Threshold intervals were analysed using interval regression models in Stata 16. RESULTS: A total of 117 PWH completed the survey. Mean thresholds were identified for all benefits, but substantial preference heterogeneity was observed; especially for the STOP thresholds, where the distribution of preferences was bimodal. Time spent on the educational tool and residence were found to impact MAB thresholds. The most accepted (88% of PWH) gene therapy profile investigated in this study comprised of zero bleeds per year (vs. six for PFRT), 90% chance to stop prophylaxis, no impact on QoL, and 10 years of follow-up on side effects (vs. 30 for PFRT). CONCLUSIONS: Results from this study proved the value of educating patients on novel treatments. Moreover, preference heterogeneity for novel treatments was confirmed in this study. In gene therapy decision-making, preference heterogeneity and the impact of patient education on acceptance should be considered.


Assuntos
Hemofilia A , Qualidade de Vida , Adulto , Terapia Genética , Hemofilia A/genética , Hemofilia A/terapia , Humanos , Preferência do Paciente , Inquéritos e Questionários
6.
Haemophilia ; 27(6): 1037-1044, 2021 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-34480812

RESUMO

INTRODUCTION: Females may have haemophilia with the same factor VIII (FVIII) or factor IX (FIX) levels as affected males. Characterization of females with haemophilia would be useful for health care planning to meet their unique needs. Federally-funded haemophilia treatment centres (HTCs) in the United States contribute data on all individuals with bleeding disorders receiving care to the Population Profile (HTC PP) component of the Community Counts Public Health Surveillance of Bleeding Disorders project. AIMS: To estimate the number of females with haemophilia receiving care at HTCs in the United States and compare their characteristics with those of males with haemophilia. METHODS: HTC PP data collected on people receiving care at an HTC from January 2012 through September 2020 with haemophilia A and B were evaluated by sex for demographic and clinical characteristics. RESULTS: A factor level < 40% was reported for 23,196 males (97.8%) and 1667 females (47.6%) attending HTCs; 51 (.48%) severe, 79 (1.4%) moderate, and 1537 (17.9%) mild haemophilia patients were female. Females were older, more often White, and less often non-Hispanic than males. Females were less likely to have history of HIV or HCV infection, even among those with severe disease, but twice as likely to have infection status unknown. Females with mild haemophilia were more often uninsured than males. CONCLUSIONS: Females with severe or moderate haemophilia are uncommon, even in specialized care centres; however, almost one in five patients with mild haemophilia was female, indicating needs for specialized care based on factor level and history for affected females.


Assuntos
Hemofilia A , Hemofilia B , Hemostáticos , Feminino , Hemofilia A/complicações , Hemofilia A/epidemiologia , Hemofilia A/terapia , Hemofilia B/epidemiologia , Hemofilia B/terapia , Humanos , Masculino , Estados Unidos/epidemiologia
7.
Haemophilia ; 27(6): 1051-1061, 2021 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-34492151

RESUMO

INTRODUCTION: Physiotherapy is highly recommended for persons with haemophilia (PWH), to regain functioning after bleeding and to maintain functioning when dealing with haemophilic arthropathy. However, many PWH live too far from their Haemophilia Comprehensive Care Centre (HCCC) to receive regular treatment at their HCCC. Physiotherapists in primary care may have limited experience with a rare disease like haemophilia. AIM: To explore experiences of stakeholders with primary care physiotherapy for PWH and develop recommendations to optimize physiotherapy care coordination. METHODS: A RAND approach was used, consisting of a Delphi procedure with e-mailed questionnaires and a consensus meeting. Included stakeholders were PWH, physiotherapists from HCCC's and primary care physiotherapists. HCCC physiotherapists approached patients from their centre and primary care physiotherapists from their network to fill in the questionnaires. Purposive sampling was used to select participants from the survey sample for the consensus meeting. RESULTS: Ninety-six primary care physiotherapists, 54 PWH and eight HCCC physiotherapists completed the questionnaire. Subsequently, four PWH, three primary care physiotherapists and four HCCC physiotherapists participated in the consensus meeting. The questionnaires yielded 33 recommendations, merged into a final list of 20 recommendations based on the consensus meeting. The final rank-order consists of 13 recommendations prioritized by at least one stakeholder. CONCLUSION: Commitment to a formal network is considered not feasible for a rare disease like haemophilia. Development of a practice guideline, easy-accessible information and contact details, two-way and open communication between HCCC and primary care and criteria to refer back to the HCCC are recommended.


Assuntos
Hemofilia A , Fisioterapeutas , Hemofilia A/terapia , Hemorragia , Humanos , Modalidades de Fisioterapia , Inquéritos e Questionários
8.
Haemophilia ; 27(6): e683-e689, 2021 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-34523198

RESUMO

INTRODUCTION: Social Workers (SWs) provide valuable services on multidisciplinary teams of Haemophilia Treatment Centres (HTCs). However, their roles have not been defined and standardized. This paper identifies six major SW roles, including counselling, case management, financial/insurance, outreach/programs, administrative, and grants/research. Roles were further classified as 'actual' roles, those that SWs were actively practicing, and 'ideal' roles, those that SWs felt were most important for their clients. AIM: The goal of this study was to determine the actual and ideal roles of HTC SWs and the barriers to ideal roles. METHODS: An online survey was tested with a focus group and then e-mailed to 147 SWs who were working in the 141 HTCs across the United States. RESULTS: Fifty-five percent of the SWs completed the survey. Data revealed that SWs' most prominent actual role was case management in their work with three client sub-populations: adult patients, paediatric patients and family members. However, SWs identified counselling as the ideal role that was most important for all client groups. Barriers to practicing ideal roles included lack of SW input, insufficient budgeted time and inadequate training. Salaries were found to be stagnant compared to 2010. Twenty-five percent of SWs reported no supervision. CONCLUSIONS: Survey results gave evidence that although HTC SWs were primarily engaged in case management roles, they wanted to take on larger counselling roles. Efforts should be made to eliminate barriers to ideal SW roles so that SWs can provide additional psychosocial services for HTC patients.


Assuntos
Hemofilia A , Adulto , Criança , Aconselhamento , Grupos Focais , Hemofilia A/terapia , Humanos , Assistentes Sociais , Inquéritos e Questionários , Estados Unidos
9.
Haemophilia ; 27(6): 967-973, 2021 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-34553460

RESUMO

INTRODUCTION: Adeno-associated virus (AAV)-based gene therapy for haemophilia presents a challenge to the existing structure of haemophilia centres and requires a rethink of current collaboration and information exchange with the aim of ensuring a system that is fit-for-purpose for advanced therapies to maximise benefits and minimise risks. In Europe, a certification process based on the number of patients and facilities is offered to the haemophilia centres by European Haemophilia Network (EUHANET). AIM AND METHODS: This joint European Association for Haemophilia and Allied Disorders (EAHAD) and European Haemophilia Consortium (EHC) publication describes criteria for centres participating in gene therapy care that require a reassessment of the infrastructure of comprehensive care and provides an outlook on how these criteria can be implemented in the future work of haemophilia centres. RESULTS: The core definition of a haemophilia treatment centre remains, but additional roles could be implemented. A modifiable 'hub-and-spoke' model addresses all aspects associated with gene therapy, including preparation and administration of the gene therapy product, determination of coagulation and immunological parameters, joint score and function, and liver health. This will also include the strategy on how to follow-up patients for a long-term safety and efficacy surveillance. CONCLUSION: We propose a modifiable, networked 'hub and spoke' model with a long term safety and efficacy surveillance system. This approach will be progressively developed with the goal of making haemophilia centres better qualified to deliver gene therapy and to make gene therapy accessible to all persons with haemophilia, irrespective of their country or centre of origin.


Assuntos
Dependovirus , Hemofilia A , Certificação , Assistência Integral à Saúde , Dependovirus/genética , Terapia Genética , Hemofilia A/genética , Hemofilia A/terapia , Humanos
10.
BMJ Case Rep ; 14(8)2021 Aug 03.
Artigo em Inglês | MEDLINE | ID: mdl-34344656

RESUMO

Acquired haemophilia A (AHA) is an uncommon but severe acquired bleeding disorder caused by the development of antibodies against clotting factor VIII, impairing secondary haemostasis. It is more common in older individuals and characteristically presents with spontaneous soft tissue bleeding that can rapidly become life-threatening. Definitive treatment requires immunosuppression to eradicate anti-FVIII antibodies, while providing haemostatic support to manage bleeding. Transfusions of fresh frozen plasma or cryoprecipitate, typically used to treat severe bleeding, are ineffective in patients with AHA. Instead, highly specialised clotting factor concentrates are required. While the appearance and extent of the soft tissue bleeding and the markedly prolonged activated partial thromboplastin time are characteristic, lack of familiarity with this disease process can lead to significant treatment delays. We report the clinical course and management of a 65-year-old woman who presented with severe anaemia of unclear aetiology with unrecognised soft tissue bleeding who was subsequently diagnosed with AHA.


Assuntos
Hemofilia A , Hemostáticos , Idoso , Fator VIII , Feminino , Hemofilia A/complicações , Hemofilia A/diagnóstico , Hemofilia A/terapia , Hemorragia/diagnóstico , Hemorragia/etiologia , Hemorragia/terapia , Humanos , Laboratórios
11.
Haemophilia ; 27(5): 837-847, 2021 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-34343384

RESUMO

INTRODUCTION: Despite increasing awareness of issues faced by women and girls with inherited BDs (WGBD), standards of care are lacking, with disparities in diagnosis and treatment for WGBD across Europe. We aimed to develop practical principles of care (PoC) to promote standardization of care for WGBD within European Haemophilia Treatment and Comprehensive Care Centres (HTC/CCCs). METHODS: The co-creation process, supported by the European Association for Haemophilia and Allied Disorders, consisted of four multidisciplinary meetings with health care providers (HCPs) experienced in WGBD care, and European Haemophilia Consortium representatives, combined with broad patient and HCP consultations in the European haemophilia community. Relevant medical societies outside Europe were contacted for confirmation. RESULTS: We developed ten PoC for WGBD, stressing the importance and benefits of a centralized, multidisciplinary, comprehensive, family-centred approach to support and manage WGBD during all life stages. These PoC emphasise the right to equitable access and quality of care for all people with BDs, irrespective of gender. Multiple medical societies outside Europe also confirmed their support for endorsement. CONCLUSIONS: Ten PoC for WGBD evolved from an iterative process among stakeholders, supported by relevant medical societies worldwide. These PoC can serve as a benchmark for diagnosis and comprehensive multidisciplinary management of WGBD, and improve awareness of their unique challenges. They offer a framework to guide HTC/CCCs in providing equitable care for all WGBD, both in their own services and in other healthcare settings. Implementation of these principles aims to positively impact the health, wellbeing and quality of life for WGBD.


Assuntos
Hemofilia A , Qualidade de Vida , Assistência Integral à Saúde , Atenção à Saúde , Europa (Continente) , Feminino , Hemofilia A/diagnóstico , Hemofilia A/terapia , Humanos
12.
Medicine (Baltimore) ; 100(29): e26587, 2021 Jul 23.
Artigo em Inglês | MEDLINE | ID: mdl-34398013

RESUMO

ABSTRACT: Poor availability and a lack of affordability of bypassing agents (recombinant activated factor VII and activated prothrombin complex concentrate) in west China prompted us to investigate an alternative cost-effective combination therapy. We aimed to explore the feasibility of therapeutic plasma exchange (TPE)-based combination therapy in the treatment of acquired hemophilia A (AHA).We retrospectively investigated the clinical features of AHA in 6 patients who were treated with a combination of TPE, corticosteroids, and rituximab in our department for 9 years between January, 2011 and December, 2019.We examined 1 male and 5 female patients. The median age at diagnosis of AHA was 51 years (18-66 years). In all patients, FVIII activity levels were low (median: 1.5%; 1-3%), FVIII inhibitor titers were high (median: 24.5 BU/mL; 13.2-48.6 BU/mL), and activated partial thromboplastin time was markedly prolonged (median: 99.4 s; 60.9-110.1 s). They underwent 2 to 8 cycles of plasma exchange and were given varying combinations of dexamethasone, methylprednisolone, prednisone, and rituximab. After TPE bleeding gradually stopped, and activated partial thromboplastin time decreased. After 3 months of treatment, FVIII inhibitors completely disappeared.TPE when combined with corticosteroids and rituximab, as adjunctive immunosuppressive agents, may be an effective and reliable treatment for AHA. When there is no alternative, intensive first-line treatment including TPE may be lifesaving.


Assuntos
Hemofilia A/terapia , Troca Plasmática/normas , Adulto , China , Quimioterapia Combinada/normas , Quimioterapia Combinada/estatística & dados numéricos , Estudos de Viabilidade , Feminino , Humanos , Imunossupressores/uso terapêutico , Masculino , Troca Plasmática/métodos , Troca Plasmática/estatística & dados numéricos , Estudos Retrospectivos
14.
Haemophilia ; 27(6): e675-e682, 2021 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-34415675

RESUMO

INTRODUCTION: Haemophilia carriers (HCs) face considerable haemostatic and psychological challenges during reproduction. AIM: To explore the perspectives of HCs on healthcare in the current standard of haemophilia treatment during all reproductive phases: preconception, pregnancy, childbirth and the postpartum period. In addition, we examined the psychological impact of haemophilia during these phases. MATERIAL AND METHODS: Focus group discussions (FGDs) and semi-structured interviews were conducted with HCs in January/February 2020 until data saturation was reached. All sessions were recorded, transcribed verbatim and analysed by two independent researchers through thematic content analysis using MAXQDA® software. The results were then discussed within the research team until consensus was reached. The constructed themes were shared with and reviewed by the HCs. RESULTS: Fifteen HCs were included in three FGDs and four interviews. Five central themes were constructed: (1) communication by healthcare professionals, (2) lack of knowledge, (3) feeling insecure, (4) autonomy and (5) family experiences with haemophilia. Desired improvements in care mainly concerned counselling during preconception and pregnancy. This included timely access to comprehensive information during each consecutive phase, acceptance of HCs' choices by healthcare providers and healthcare tailored to the HC's family experience with haemophilia. CONCLUSIONS: In recent years, haemophilia treatment has seen major advances, which could impact general and reproductive care for HCs. HCs indicated that reproductive care would benefit from a more personal and informative approach. Healthcare professionals could use these insights to adapt their consultations to meet the needs of these women when they are preparing for having children.


Assuntos
Hemofilia A , Criança , Parto Obstétrico , Feminino , Grupos Focais , Hemofilia A/terapia , Humanos , Parto , Gravidez , Pesquisa Qualitativa
15.
Int J Mol Sci ; 22(14)2021 Jul 17.
Artigo em Inglês | MEDLINE | ID: mdl-34299267

RESUMO

Hemophilia is a monogenic mutational disease affecting coagulation factor VIII or factor IX genes. The palliative treatment of choice is based on the use of safe and effective recombinant clotting factors. Advanced therapies will be curative, ensuring stable and durable concentrations of the defective circulating factor. Results have so far been encouraging in terms of levels and times of expression using mainly adeno-associated vectors. However, these therapies are associated with immunogenicity and hepatotoxicity. Optimizing the vector serotypes and the transgene (variants) will boost clotting efficacy, thus increasing the viability of these protocols. It is essential that both physicians and patients be informed about the potential benefits and risks of the new therapies, and a register of gene therapy patients be kept with information of the efficacy and long-term adverse events associated with the treatments administered. In the context of hemophilia, gene therapy may result in (particularly indirect) cost savings and in a more equitable allocation of treatments. In the case of hemophilia A, further research is needed into how to effectively package the large factor VIII gene into the vector; and in the case of hemophilia B, the priority should be to optimize both the vector serotype, reducing its immunogenicity and hepatotoxicity, and the transgene, boosting its clotting efficacy so as to minimize the amount of vector administered and decrease the incidence of adverse events without compromising the efficacy of the protein expressed.


Assuntos
Terapia Genética/métodos , Hemofilia A/terapia , Hemofilia B/terapia , Animais , Fator IX/genética , Fator IX/metabolismo , Fator VIII/genética , Fator VIII/metabolismo , Hemofilia A/genética , Hemofilia A/metabolismo , Hemofilia A/patologia , Hemofilia B/genética , Hemofilia B/metabolismo , Hemofilia B/patologia , Humanos
16.
Haemophilia ; 27(5): 769-782, 2021 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-34310811

RESUMO

INTRODUCTION: Gene therapy has shown promise in clinical trials for patients with haemophilia, but patient preference studies have focused on factor replacement treatments. AIM: We conducted a discrete choice experiment (DCE) to investigate the relative importance and differential preferences patients provide for gene therapy attributes. METHODS: We surveyed male adults with haemophilia in the United States recruited from patient panels including the National Hemophilia Foundation Community Voices in Research platform using an online survey over 4 months in 2020/21. Participants indicated preferences for gene therapy attributes including dosing frequency/durability, effect on annual bleeding, uncertainty related to side effects, impact on daily activities, impact on mental health, and post-treatment requirements. The relative importance of each attribute was analysed overall and for subgroups based on haemophilia type and severity. RESULTS: A total of 183 males with haemophilia A (n = 120) or B (n = 63) were included. Half (47%) had severe haemophilia; most (75%) were White. Overall, participants gave effect on bleeding rate the greatest relative importance (31%), followed by dose frequency/durability (26%), uncertainty regarding safety issues (17%), and impact on daily activities (11%). Dose frequency/durability had the greatest importance for those with haemophilia B (35%). CONCLUSION: People with haemophilia prioritised reduced bleeding and treatment burden; the former was more important in haemophilia A and the latter in haemophilia B, followed by safety and impact on daily life in this DCE of gene therapy attributes. These findings and differences can inform clinical and health policy decisions to improve health equity for people with haemophilia.


Assuntos
Hemofilia A , Adulto , Comportamento de Escolha , Terapia Genética , Hemofilia A/genética , Hemofilia A/terapia , Hemorragia/terapia , Humanos , Masculino , Preferência do Paciente , Inquéritos e Questionários
17.
Haemophilia ; 27(5): 760-768, 2021 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-34265145

RESUMO

INTRODUCTION: For many people with haemophilia (PwH) gene therapy offers a potential functional cure. However, some have stated that they do not wish to have gene therapy either now or in the future. AIM: This sub-study, part of the larger Exigency programme, assesses the attitudes, views and understanding of those who do not wish to undergo gene therapy. METHODS: Participants were approached via social media and word of mouth referral and invited to participate in a focus group or individual interview to discuss their views. Interviews were recorded, transcribed verbatim and analysed thematically. RESULTS: Ten adult men with severe haemophilia (eight haemophilia A and two haemophilia B), mean age 34.3 years, participated in a 1-h focus group (n = 9) or interview (n = 1). All were on prophylaxis. None reported significant treatment burden, and all had annual bleeding rates of less than five in the previous 12 months. Four major themes emerged: self-identity and its loss, lack of long-term safety and efficacy data, ongoing concerns about past viral infection, and lack of current treatment burden. CONCLUSION: There are many concerns about gene therapy, including eligibility, effectiveness and safety, which may result in individuals declining it as a therapy. These concerns may recede as more data are published. This study reveals a psychological dynamic around self-identity and belonging for PwH. The nature of this dynamic is poorly understood and needs exploration to facilitate support for those making decisions about gene therapy.


Assuntos
Hemofilia A , Hemofilia B , Adulto , Tomada de Decisões , Terapia Genética , Hemofilia A/genética , Hemofilia A/terapia , Hemofilia B/genética , Hemofilia B/terapia , Hemorragia , Humanos , Masculino
18.
Int J Lab Hematol ; 43 Suppl 1: 117-123, 2021 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-34288447

RESUMO

Since the cloning and characterization of the factor VIII (FVIII) and factor IX genes in the mid-1980s, gene therapy has been perceived as having significant potential for the treatment of severe hemophilia. Now, some 35 years later, these proposals are close to being realized through the licensing of the first clinical gene therapy product. Adeno-associated viral vector-mediated gene therapy for hemophilia A and B has been extensively investigated in preclinical models over the past 20 years, and since 2011, there has been increasing evidence in early phase clinical trials that this therapeutic strategy can provide safe and effective rescue of the hemostatic phenotype in severe hemophilia. As the uptake of hemophilia gene therapy progresses, it is clear that many aspects of the gene therapy process require crucial laboratory support to ensure safe and effective outcomes from his new therapeutic paradigm. These laboratory contributions extend from evaluations of the gene therapy vehicle, assessments of the patient immune status for the vector, and ultimately the performance of assays to determine the hemostatic benefit of the gene therapy and potentially of its long-term safety on the host genome. As with many aspects of past hemophilia care, the safe and effective delivery of gene therapy will require an informed and coordinated contribution from laboratory science.


Assuntos
Terapia Genética , Hemofilia A/terapia , Hemofilia B/terapia , Animais , Coagulação Sanguínea , Testes de Coagulação Sanguínea , Ensaios Clínicos como Assunto , Dependovirus/genética , Fator IX/genética , Fator VIII/genética , Terapia Genética/efeitos adversos , Terapia Genética/métodos , Vetores Genéticos/administração & dosagem , Vetores Genéticos/efeitos adversos , Vetores Genéticos/genética , Hemofilia A/sangue , Hemofilia A/diagnóstico , Hemofilia A/genética , Hemofilia B/sangue , Hemofilia B/diagnóstico , Hemofilia B/genética , Humanos , Mutação , Fenótipo , Resultado do Tratamento
19.
J Comp Eff Res ; 10(15): 1121-1131, 2021 10.
Artigo em Inglês | MEDLINE | ID: mdl-34240615

RESUMO

Aim: Examine real-world characteristics, treatment patterns, and outcomes among treated persons with hemophilia A (PwHA) stratified by age. Patients & methods: This study utilized US claims data from 1 January 2007-31 July 2018 from the Humana Research Database. Unadjusted comparisons were conducted across PwHA (<18, 18-55, 56-89 years) enrolled in commercial or Medicare Advantage Prescription Drug plans. Results: A total of 294 PwHA were identified; 21.1% experienced ≥1 bleeding event, and 41.2 and 53.1% had evidence of arthropathy or related disorders, and pain, respectively. Along with all-cause and hemophilia-related healthcare resource utilization (HCRU), these were highest among PwHA aged 56-89 years. Conclusion: Insights into treatment, outcomes and HCRU may identify opportunities for enhanced disease management, particularly in older PwHA.


Assuntos
Hemofilia A , Idoso , Bases de Dados Factuais , Hemofilia A/terapia , Hemorragia , Humanos , Medicare , Aceitação pelo Paciente de Cuidados de Saúde , Estados Unidos
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