| 11. |
- Gorlova, Olga, et al.
(author)
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Identification of Novel Genetic Markers Associated with Clinical Phenotypes of Systemic Sclerosis through a Genome-Wide Association Strategy
- 2011
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In: PLoS Genetics. - : Public Library of Science (PLoS). - 1553-7404. ; 7:7
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Journal article (peer-reviewed)abstract
- The aim of this study was to determine, through a genome-wide association study (GWAS), the genetic components contributing to different clinical sub-phenotypes of systemic sclerosis (SSc). We considered limited (IcSSc) and diffuse (dcSSc) cutaneous involvement, and the relationships with presence of the SSc-specific auto-antibodies, anti-centromere (ACA), and anti-topoisomerase I (ATA). Four GWAS cohorts, comprising 2,296 SSc patients and 5,171 healthy controls, were meta-analyzed looking for associations in the selected subgroups. Eighteen polymorphisms were further tested in nine independent cohorts comprising an additional 3,175 SSc patients and 4,971 controls. Conditional analysis for associated SNPs in the HLA region was performed to explore their independent association in antibody subgroups. Overall analysis showed that non-HLA polymorphism rs11642873 in IRF8 gene to be associated at GWAS level with lcSSc (P = 2.32x10(-12), OR = 0.75). Also, rs12540874 in GRB10 gene (P = 1.27 x 10(-6), OR = 1.15) and rs11047102 in SOX5 gene (P = 1.39x10(-7), OR = 1.36) showed a suggestive association with lcSSc and ACA subgroups respectively. In the HLA region, we observed highly associated allelic combinations in the HLA-DQB1 locus with ACA (P = 1.79x10(-61), OR = 2.48), in the HLA-DPA1/B1 loci with ATA (P = 4.57x10(-76), OR = 8.84), and in NOTCH4 with ACA P = 8.84x10(-21), OR = 0.55) and ATA (P = 1.14x10(-8), OR = 0.54). We have identified three new non-HLA genes (IRF8, GRB10, and SOX5) associated with SSc clinical and autoantibody subgroups. Within the HLA region, HLA-DQB1, HLA-DPA1/B1, and NOTCH4 associations with SSc are likely confined to specific auto-antibodies. These data emphasize the differential genetic components of subphenotypes of SSc.
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| 12. |
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| 13. |
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| 14. |
- Kim, HoUng, et al.
(author)
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The Future of Biosimilars : Maximizing Benefits Across Immune-Mediated Inflammatory Diseases
- 2020
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In: Drugs. - : Adis International. - 0012-6667 .- 1179-1950. ; 80:2, s. 99-113
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Journal article (peer-reviewed)abstract
- Biologics have transformed the treatment of immune-mediated inflammatory diseases such as rheumatoid arthritis (RA) and inflammatory bowel disease (IBD). Biosimilars-biologic medicines with no clinically meaningful differences in safety or efficacy from licensed originators-can stimulate market competition and have the potential to expand patient access to biologics within the parameters of treatment recommendations. However, maximizing the benefits of biosimilars requires cooperation between multiple stakeholders. Regulators and developers should collaborate to ensure biosimilars reach patients rapidly without compromising stringent quality, safety, or efficacy standards. Pharmacoeconomic evaluations and payer policies should be updated following biosimilar market entry, minimizing the risk of imposing nonmedical barriers to biologic treatment. In RA, disparities between treatment guidelines and national reimbursement criteria could be addressed to ensure more uniform patient access to biologics and enable rheumatologists to effectively implement treat-to-target strategies. In IBD, the cost-effectiveness of biologic treatment earlier in the disease course is likely to improve when biosimilars are incorporated into pharmacoeconomic analyses. Patient understanding of biosimilars is crucial for treatment success and avoiding nocebo effects. Full understanding of biosimilars by physicians and carefully considered communication strategies can help support patients initiating or switching to biosimilars. Developers must operate efficiently to be sustainable, without undermining product quality, the reliability of the supply chain, or pharmacovigilance. Developers should also facilitate information sharing to meet the needs of other stakeholders. Such collaboration will help to ensure a sustainable future for both the biosimilar market and healthcare systems, supporting the availability of effective treatments for patients.
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| 15. |
- Oris, Leen, et al.
(author)
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Illness Identity in Adults with a Chronic Illness.
- 2018
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In: Journal of clinical psychology in medical settings. - : Springer Science and Business Media LLC. - 1573-3572 .- 1068-9583. ; 25:4, s. 429-440
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Journal article (peer-reviewed)abstract
- The present study examines the concept of illness identity, the degree to which a chronic illness is integrated into one's identity, in adults with a chronic illness by validating a new self-report questionnaire, the Illness Identity Questionnaire (IIQ). Self-report questionnaires on illness identity, psychological, and physical functioning were assessed in two samples: adults with congenital heart disease (22-78year old; n=276) and with multisystem connective tissue disorders (systemic lupus erythematosus or systemic sclerosis; 17-81year old; n=241). The IIQ could differentiate four illness identity states (i.e., engulfment, rejection, acceptance, and enrichment) in both samples, based on exploratory and confirmatory factor analysis. All four subscales proved to be reliable. Rejection and engulfment were related to maladaptive psychological and physical functioning, whereas acceptance and enrichment were related to adaptive psychological and physical functioning. The present findings underscore the importance of the concept of illness identity. The IIQ, a self-report questionnaire, is introduced to measure four different illness identity states in adults with a chronic illness.
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| 16. |
- Parodis, Ioannis, 1981-, et al.
(author)
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EULAR recommendations for the non-pharmacological management of systemic lupus erythematosus and systemic sclerosis
- 2024
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In: Annals of the Rheumatic Diseases. - : HighWire Press. - 0003-4967 .- 1468-2060. ; 83, s. 720-729
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Journal article (peer-reviewed)abstract
- OBJECTIVE: To develop evidence-based recommendations for the non-pharmacological management of systemic lupus erythematosus (SLE) and systemic sclerosis (SSc).METHODS: A task force comprising 7 rheumatologists, 15 other healthcare professionals and 3 patients was established. Following a systematic literature review performed to inform the recommendations, statements were formulated, discussed during online meetings and graded based on risk of bias assessment, level of evidence (LoE) and strength of recommendation (SoR; scale A-D, A comprising consistent LoE 1 studies, D comprising LoE 4 or inconsistent studies), following the European Alliance of Associations for Rheumatology standard operating procedure. Level of agreement (LoA; scale 0-10, 0 denoting complete disagreement, 10 denoting complete agreement) was determined for each statement through online voting.RESULTS: Four overarching principles and 12 recommendations were developed. These concerned common and disease-specific aspects of non-pharmacological management. SoR ranged from A to D. The mean LoA with the overarching principles and recommendations ranged from 8.4 to 9.7. Briefly, non-pharmacological management of SLE and SSc should be tailored, person-centred and participatory. It is not intended to preclude but rather complement pharmacotherapy. Patients should be offered education and support for physical exercise, smoking cessation and avoidance of cold exposure. Photoprotection and psychosocial interventions are important for SLE patients, while mouth and hand exercises are important in SSc.CONCLUSIONS: The recommendations will guide healthcare professionals and patients towards a holistic and personalised management of SLE and SSc. Research and educational agendas were developed to address needs towards a higher evidence level, enhancement of clinician-patient communication and improved outcomes.
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| 17. |
- Radstake, Timothy R. D. J., et al.
(author)
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Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus
- 2010
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In: Nature Genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 42:5, s. 71-426
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Journal article (peer-reviewed)abstract
- Systemic sclerosis (SSc) is an autoimmune disease characterized by fibrosis of the skin and internal organs that leads to profound disability and premature death. To identify new SSc susceptibility loci, we conducted the first genome-wide association study in a population of European ancestry including a total of 2,296 individuals with SSc and 5,171 controls. Analysis of 279,621 autosomal SNPs followed by replication testing in an independent case-control set of European ancestry (2,753 individuals with SSc (cases) and 4,569 controls) identified a new susceptibility locus for systemic sclerosis at CD247 (1q22-23, rs2056626, P = 2.09 x 10(-7) in the discovery samples, P = 3.39 x 10(-9) in the combined analysis). Additionally, we confirm and firmly establish the role of the MHC (P = 2.31 x 10(-18)), IRF5 (P = 1.86 x 10(-13)) and STAT4 (P = 3.37 x 10(-9)) gene regions as SSc genetic risk factors.
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| 18. |
- Van der Elst, Kristien, et al.
(author)
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European Qualitative Research Project on Patient-preferred Outcomes in Early Rheumatoid Arthritis (EQPERA) : Rationale, Design and Methods of a Multi-country, Multi-center, Multi-language, Longitudinal Qualitative Study
- 2017
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In: European Congress of Qualitative Inquiry. ; , s. 117-117
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Conference paper (peer-reviewed)abstract
- Background: A successful medical outcome is no guarantee for patient perception of treatment success. Unraveling the patient’s perspective on outcome preferences is therefore crucial to deliver patient-centered, high-quality chronic illness care. Furthermore, the earliest stage of a chronic disease, such as in Rheumatoid Arthritis (RA), can be considered as a critical phase in the patient pathway for achieving optimal long-term outcomes. A Belgian qualitative study provided a first glimpse on what matters most to patients with recently diagnosed RA (1). However, there was a need for an international data set to better understand this complex phenomenon being studied, and to investigate whether the Belgian findings could be transferred to contexts with different national healthcare systems, practices and values. To this end, EQPERA –European Qualitative research collaboration on Patient-preferred outcomes in Early Rheumatoid Arthritis– was founded.Objectives: The overall research objective of EQPERA is to unravel longitudinally preferences for treatment and health outcomes among patients with early RA across Belgium, the Netherlands, Sweden and Norway, placing findings in a context broader than Belgium. Furthermore, EQPERA aims to add to qualitative methodology research.Methods: EQPERA applies a qualitative, explorative, longitudinal research design, which was developed in collaboration with patient research partners and the patient perspective in mind. In each country, a purposive sample of patients with early RA will be individually interviewed between 3-6 months after start of the initial RA treatment and subsequently, the same participants will be invited to take part in a focus group about 1 year after RA treatment initiation. Interviews will be analyzed using the constant comparison method as described in Qualitative Analysis Guide of Leuven. The longitudinal analysis will be guided by Saldaña’s steps for analyzing change through time in longitudinal qualitative research. To study the multinational findings, we will carry out a meta-synthesis of all locally gathered and interpreted data. The local research teams will independently employ a qualitative study, while the project leader will monitor the research as it unfolds and evolves. Moreover, to support consistency in data collection and the inter-coder reliability across countries, we will implement a detailed research protocol, a structured cultural translation and validation process of the interview guides, data collection templates, a quality assurance reporting tool and specific training sessions.Added value: Our innovative, qualitative, longitudinal research design goes beyond the abilities of the frequently used cross-sectional designs in qualitative research. A European research context allows to uncover subtle cultural differences in patient-preferred outcomes across more or less similar organized countries. This project is thus a first step in gathering widely applicable findings in a research area where evidence-based knowledge is lacking, yet, highly needed to tailor care processes and optimize patient outcomes. Various data management strategies are applied to ensure quality and trustworthiness of our findings, and to promote a smooth European collaboration.
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| 19. |
- Van der Elst, Kristien, et al.
(author)
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European Qualitative research project on Patient-preferred outcomes in Early Rheumatoid Arthritis (EQPERA) : rationale, design and methods of a multinational, multicentre, multilingual, longitudinal qualitative study
- 2019
-
In: BMJ Open. - London, UK : BMJ Publishing Group Ltd. - 2044-6055. ; 9:3
-
Journal article (peer-reviewed)abstract
- INTRODUCTION: Including the patient perspective is important to achieve optimal outcomes in the treatment of rheumatoid arthritis (RA). Ample qualitative studies exist on patient outcomes in RA. A Belgian study recently unravelled what matters most to patients throughout the overwhelming and rapidly evolving early stage of RA. The present study, European Qualitative research project on Patient-preferred outcomes in Early Rheumatoid Arthritis (EQPERA) was created to contribute to a more universal understanding of patient-preferred health and treatment outcomes by integrating the perspectives of patients with early RA from three European countries.METHODS AND ANALYSIS: In EQPERA, a qualitative, explorative, longitudinal study will be implemented in The Netherlands and Sweden, parallel to the methods applied in the previously conducted Belgian study. In each country, a purposive sample of patients with early RA will be individually interviewed 3-6 months after start of the initial RA treatment and subsequently, the same participants will be invited to take part in a focus group 12-18 months after RA treatment initiation. Data collection and analysis will be independently conducted by the local research teams in their native language. A meta-analysis of the local findings will be performed to explore and describe similarities, differences and patterns across countries.ETHICS AND DISSEMINATION: Ethics approval was granted by the responsible local ethics committees. EQPERA follows the recommendations of the Declaration of Helsinki. Two main papers are foreseen (apart from the data reporting on the local findings) for peer-reviewed publication.© Author(s) (or their employer(s)) 2019.
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| 20. |
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