scholarly journals A Medical Report Feature for OSSE Rare Disease Registries

2021 ◽  
Author(s):  
Katja Schueler ◽  
Axel Zieschank ◽  
Jens Göbel ◽  
Jessica Vasseur ◽  
Jannik Schaaf ◽  
...  
Keyword(s):  
Rare Disease ◽  
Process Data ◽  
Patient Registries ◽  
Web Based ◽  
Disease Research ◽  
Current State ◽  
Disease Registries ◽  
Medical Reports ◽  
Rare Disease Registry ◽  
New Feature

Web-based patient registries support clinicians by providing a way to effectively store and process data. Here, we present a new feature for the open-source registry software OSSE: medical reports generated with R Markdown. As part of a rare disease research project, we describe the process from requirements assessment to the current state of technical implementation. The feature offers clinicians the possibility to download customised as well as generic reports from an OSSE rare disease registry.

scholarly journals Validating online approaches for rare disease research using latent class mixture modeling

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Andrew A. Dwyer ◽  
Ziwei Zeng ◽  
Christopher S. Lee
Keyword(s):  
Rare Disease ◽  
Latent Class ◽  
Depression Scale ◽  
Mixture Modeling ◽  
Class I ◽  
Depression Symptoms ◽  
Patient Organization ◽  
Web Based ◽  
Disease Research ◽  
Patient Organizations

Abstract Background Rare disease patients are geographically dispersed, posing challenges to research. Some researchers have partnered with patient organizations and used web-based approaches to overcome geographic recruitment barriers. Critics of such methods claim that samples are homogenous and do not represent the broader patient population—as patients recruited from patient organizations are thought to have high levels of needs. We applied latent class mixture modeling (LCMM) to define patient clusters based on underlying characteristics. We used previously collected data from a cohort of patients with congenital hypogonadotropic hypogonadism who were recruited online in collaboration with a patient organization. Patient demographics, clinical information, Revised Illness Perception Questionnaire (IPQ-R) scores and Zung self-rating depression Scale (SDS) were used as variables for LCMM analysis. Specifically, we aimed to test the classic critique that patients recruited online in collaboration with a patient organization are a homogenous group with high needs. We hypothesized that distinct classes (clinical profiles) of patients could be identified—thereby demonstrating the validity of online recruitment and supporting transferability of findings. Results In total, 154 patients with CHH were included. The LCMM analysis identified three distinct subgroups (Class I: n = 84 [54.5%], Class II: n = 41 [26.6%], Class III: n = 29 [18.8%]) that differed significantly in terms of age, education, disease consequences, emotional consequences, illness coherence and depression symptoms (all p < 0.001) as well as age at diagnosis (p = 0.045). Classes depict a continuum of psychosocial impact ranging from severe to relatively modest. Additional analyses revealed later diagnosis (Class I: 19.2 ± 6.7 years [95% CI 17.8–20.7]) is significantly associated with worse psychological adaptation and coping as assessed by disease consequences, emotional responses, making sense of one’s illness and SDS depressive symptoms (all p < 0.001). Conclusions We identify three distinct classes of patients who were recruited online in collaboration with a patient organization. Findings refute prior critiques of patient partnership and web-based recruitment for rare disease research. This is the first empirical data suggesting negative psychosocial sequelae of later diagnosis (“diagnostic odyssey”) often observed in CHH.

scholarly journals The International LAM Registry: A Component of an Innovative Web-Based Clinician, Researcher, and Patient-Driven Rare Disease Research Platform

2010 ◽  
Vol 8 (1) ◽  
pp. 81-87 ◽  
Author(s):  
Michael Nurok ◽  
Ian Eslick ◽  
Carlos R. R. Carvalho ◽  
Ulrich Costabel ◽  
Jeanine D'Armiento ◽  
...  
Keyword(s):  
Rare Disease ◽  
Web Based ◽  
Disease Research ◽  
Research Platform

scholarly journals Validating Online Approaches for Rare Disease Research Using Latent Class Mixture Modeling.

2021 ◽  
Author(s):  
Andrew A. Dwyer ◽  
Ziwei Zeng ◽  
Christopher S. Lee
Keyword(s):  
Rare Disease ◽  
Latent Class ◽  
Depression Scale ◽  
Mixture Modeling ◽  
Class I ◽  
Depression Symptoms ◽  
Patient Organization ◽  
Web Based ◽  
Disease Research ◽  
Patient Organizations

Abstract Background: Rare disease patients are geographically dispersed, posing challenges to research. Some researchers have partnered with patient organizations and used web-based approaches to overcome geographic recruitment barriers. Critics of such methods claim that samples are homogenous and do not represent the broader patient population - as patients recruited from patient organizations are thought to have high levels of needs. We applied latent class mixture modeling (LCMM) to define patient clusters based on underlying characteristics. We used previously collected data from a cohort of patients with congenital hypogonadotropic hypogonadism (CHH) who were recruited online in collaboration with a patient organization. Patient demographics, clinical information, Revised Illness Perception Questionnaire (IPQ-R) scores and Zung self-rating depression Scale (SDS) were used as variables for LCMM analysis. Specifically, we aimed to test the classic critique that patients recruited online in collaboration with a patient organization are a homogenous group with high needs. We hypothesized that distinct classes (clinical profiles) of patients could be identified - thereby demonstrating the validity of online recruitment and supporting transferability of findings. Results: In total, 154 patients with CHH were included. The LCMM analysis identified three distinct subgroups (Class I: n=84 [54.5%], Class II: n=41 [26.6%], Class III: n=29 [18.8%]) that differed significantly in terms of age, education, disease consequences, emotional consequences, illness coherence and depression symptoms (all p<0.001) as well as age at diagnosis (p=0.045). Classes depict a continuum of psychosocial impact ranging from severe to relatively modest. Additional analyses revealed later diagnosis (Class I: 19.2±6.7 yrs. [95%CI: 17.8-20.7]) is significantly associated with worse psychological adaptation and coping as assessed by disease consequences, emotional responses, making sense of one’s illness and SDS depressive symptoms (all p<0.001). Conclusions: We identify three distinct classes of patients who were recruited online in collaboration with a patient organization. Findings refute prior critiques of patient partnership and web-based recruitment for rare disease research. This is the first empirical data suggesting negative psychosocial sequelae of later diagnosis (“diagnostic odyssey”) often observed in CHH.

scholarly journals Reducing the diagnostic delay in Antiphospholipid Syndrome over time: a real world observation

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Massimo Radin ◽  
Silvia Grazietta Foddai ◽  
Alice Barinotti ◽  
Irene Cecchi ◽  
Elena Rubini ◽  
...  
Keyword(s):  
Rare Disease ◽  
Antiphospholipid Syndrome ◽  
Diagnostic Delay ◽  
Autoimmune Disorder ◽  
Critical Issue ◽  
Disease Registry ◽  
Personal Experiences ◽  
Rare Disease Registry ◽  
Self Administered Questionnaire ◽  
Over Time

Abstract Background Antiphospholipid Syndrome (APS) is a rare autoimmune disorder with an estimated prevalence of 40–50 cases per 100.000 persons. Patients suffering from low prevalence diseases are more likely to face diagnostic challenges, given the limited knowledge of most clinicians. The main aim of this study was to investigate the time between symptoms occurrence and the diagnosis of APS patients using the Piedmont and Aosta Valley Rare Disease Registry. Secondly, to evaluate the individual impact of the diagnostic gap by gathering patients’ personal experiences through a self-administered questionnaire. Results Data from the Piedmont and Aosta Valley Rare Disease Registry was used. In addition, personal experiences were analyzed through a self-administered questionnaire. A total of 740 APS patients included in the Piedmont and Aosta Valley Rare Disease Registry were analyzed. Diagnostic delay (as defined by time between symptoms’ occurrence and the diagnosis of APS) was significantly reduced over time. In particular, when comparing the diagnostic delay between patients diagnosed between 1983 and 1999 and patients diagnosed between 2000 and 2015, we found a significant statistical difference (Mann-Whithey U Test; mean rank 1216.6 vs. 1066.9, respectively; p < 0.0001). When analyzing the self-administered questionnaires, patients with a perception of having suffered for a diagnostic delay had a higher prevalence of symptoms suggestive of an autoimmune condition but not highly suggestive of APS (45%), followed by “extra criteria” APS manifestation (30%) and by thrombotic events (25%). The first clinical manifestation of patients who did not have the perception of having suffered a diagnostic delay was thrombotic events (45.5%), followed by autoimmune manifestation not linked to APS (45.5%), and “extra criteria” APS manifestations (9%). Conclusions While the diagnostic delay of APS has been reduced during the last years, the time between symptoms occurrence and the diagnosis of rare diseases still represents a critical issue to be addressed in order to prevent major complications.

Rare Disease Registries Classification and Characterization: A Data Mining Approach

2015 ◽  
Vol 18 (2) ◽  
pp. 113-122 ◽  
Author(s):  
Michele Santoro ◽  
Alessio Coi ◽  
Michele Lipucci Di Paola ◽  
Anna Maria Bianucci ◽  
Sabina Gainotti ◽  
...  
Keyword(s):  
Data Mining ◽  
Rare Disease ◽  
Data Mining Approach ◽  
Disease Registries

scholarly journals A novel approach to conducting clinical trials in the community setting: Utilizing patient-driven platforms and social media to drive web-based patient recruitment

2019 ◽  
Author(s):  
Janelle Applequist ◽  
Cristina Burroughs ◽  
Artemio Ramirez ◽  
Peter A. Merkel ◽  
Marc E. Rothenberg ◽  
...  
Keyword(s):  
Social Media ◽  
Clinical Research ◽  
Rare Disease ◽  
Patient Recruitment ◽  
Research Approach ◽  
Marketing Theory ◽  
Disease Category ◽  
Web Based ◽  
Recruitment Methods ◽  
Research Studies

Abstract Background: Participant recruitment for clinical research studies remains a significant challenge for researchers. Novel approaches to recruitment are necessary to ensure that populations are easier to reach. In the context of rare diseases, social media provides a unique opportunity for connecting with patient groups that have representatively lower diagnosis rates when compared with more common maladies. We describe the implementation of designing a patient-centered approach to message design for the purposes of recruiting patients for clinical research studies for rare disease populations. Methods: Using an iterative research approach, we analyzed our previous experience of using web-based direct-to-patient recruitment methods to compare these online strategies with traditional center of excellence recruitment strategies. After choosing six research studies for inclusion in the previous study, in-depth, online interviews ( n = 37) were conducted with patients represented in each disease category to develop and test recruitment message strategies for social media and a Web-based platform for patients to access study information and pre-screen. Finally, relationships were established with Patient Advocacy Groups representing each rare disease category to ensure further dissemination of recruitment materials via their own social media networks. Results: Guided by social marketing theory, we created and tested various recruitment message designs. Three key message concepts preferred by patients emerged: (1) infographic; (2) positive emotional messages; and (3) educational information for sharing. A base study website that was created and edited based on qualitative user-testing. This website includes the option for potential participants to pre-screen and determine their eligibility for the study. Conclusions: Study participants report wanting to be involved in the design and implementation of recruitment approaches for clinical research studies. The application of the aforementioned methods could aide in the evolution of clinical research practices for the recruitment of both rare and common diseases, where patient-centric approaches can help to create targeted messages designs that participants pre-test and support.

scholarly journals Design, Development and Deployment of a Web-Based Interoperable Registry for Inherited Retinal Dystrophies in Portugal – the IRD-PT

2020 ◽  
Author(s):  
João Pedro Marques ◽  
Ana Luísa Carvalho ◽  
José Henriques ◽  
Joaquim Neto Murta ◽  
Jorge Saraiva ◽  
...  
Keyword(s):  
Genetic Research ◽  
Quality Data ◽  
Design Development ◽  
Patient Registries ◽  
Real World Data ◽  
Web Based ◽  
Human Phenotype ◽  
Inherited Retinal Dystrophies ◽  
Retinal Dystrophies ◽  
User Friendly

Abstract BACKGROUND The development of multicenter patient registries promotes the generation of scientific knowledge by using real-world data. A country-wide, web-based registry for inherited retinal dystrophies (IRDs) empowers patients and community organizations, while supporting formal partnerships with investigators and stakeholders in the global aim to develop high-value, high-utility research. We aim to describe the design, development and deployment of a country-wide, web-based, user-friendly and interoperable registry for IRDs – the IRD-PT. RESULTS The IRD-PT is a clinical/genetic research registry included in the retina.pt platform (http://www.retina.com.pt), which was developed by the Portuguese Retina Study Group. The retina.pt platform collects data on individuals diagnosed with retinal diseases, from several sites across Portugal, with over 1800 participants and over 30,000 consultations to date. The IRD-PT module interacts with the retina.pt core system which provides a range of basic functions for patient data management, while the IRD-PT module allows data capture for the specific purpose of IRDs. All IRDs are coded accordingly to the International Statistical Classification of Diseases and Related Health Problems (ICD) 9, ICD 10, ICD 11, and Orphanet Rare Disease Ontology (ORPHA codes) to make the IRD-PT interoperable with other IRD registries across the world. Furthermore, the genes are coded according to the Ontology of Genes and Genomes and Online Mendelian Inheritance in Man, whereas signs and symptoms are coded according to the Human Phenotype Ontology. The IRD-PT module pre-launched at Centro Hospitalar e Universitário de Coimbra , the largest reference center for IRDs in Portugal. As of April 1 st 2020, finalized data from 537 participants were available for this preliminary analysis. CONCLUSIONS In the specific field of rare diseases, the use of registries increases research accessibility for individuals, while providing clinicians/investigators with a coherent data ecosystem necessary to boost research. Appropriate design and implementation of patient registries enables rapid decision making and ongoing data mining, ultimately leading to improved patient outcomes. We have described here the principles behind the design, development and deployment of a web-based, user-friendly and interoperable software tool aimed to generate important knowledge and collect high-quality data on the epidemiology, genomic landscape and natural history of IRDs in Portugal.

scholarly journals A Support of Independent Processes Outside of Information System, Using an Ontology Driven Application

2014 ◽  
Vol 2 (12) ◽  
pp. 45-52
Author(s):  
Ladislav Burita
Keyword(s):  
Information Technology ◽  
Information System ◽  
Research Work ◽  
Extensive Literature ◽  
Final Solution ◽  
Web Based ◽  
Real Possibility ◽  
Current State ◽  
Ontology Design ◽  
Experimental Laboratory

The purpose of the article is to analyze support of the independent processes, using any tool of information technology (IT) outside of the information system (IS) in the enterprise environment. The useful tool of IT could be the software (SW) ATOM, an ontology-driven web based application. Changes in IS are very expensive, complicated and risky, but it should be suggested solution omitted. The extensive literature review of the current state of the topic is added. The chosen process is innovation; the life cycle of innovation is explained: suggestion of innovation, demand for the solution of innovation, the final solution of innovation, and project for implementation of innovation. The methodology of an ontology preparation for the SW application includes design scheme of classes and associations between classes, preparation table of assignment characteristics to classes, and implementation of an ontology design in SW ATOM. The real possibility to support independent processes outside of IS using an ontology-driven application was experimentally verified and confirmed, and the result of research work could be used for any process outside of IS. Limits of the proposed solution consist of only experimental laboratory verification. For the practical use, it should be necessary first to prepare a prototype for the corporation IS in an enterprise environment.

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