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Developing interactions with industry in rare diseases: lessons learned and continuing challenges.

ABSTRACT: The National Institutes of Health (NIH) established the Rare Diseases Clinical Research Network to address the unique challenges of performing research on rare diseases. The Urea Cycle Disorders Consortium (UCDC) was one of the original ten consortia established. The UCDC represents a unique partnership among clinicians, patients, and the NIH with a primary goal of increasing the development of therapeutics that improve patient outcomes for persons affected with a UCD. Based in part on financial incentives associated with the Orphan Drug Act biopharmaceutical and investment entities have an intense interest in engaging with research consortia like the UCDC, which have compiled potentially valuable longitudinal data characterizing outcomes in a relatively large number of affected individuals. We describe the UCDC experience and the bases for evaluating partnerships with such private entities. We review early industry interactions, the development of policies and procedures, and describe the establishment of an Industry Relations Committee, including guiding principles. Challenges encountered, particularly in the transition when products are approved, and potential solutions are discussed. By building a framework for industry partnerships that guides us in resolving inevitable challenges, we can enthusiastically pursue novel and promising collaborations that can lead to breakthroughs in therapeutic interventions for patients.

SUBMITTER: Berry SA

PROVIDER: S-EPMC6944635 | biostudies-literature | 2020 Jan

REPOSITORIES: biostudies-literature

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Developing interactions with industry in rare diseases: lessons learned and continuing challenges.

Berry Susan A SA Coughlin Curtis R CR McCandless Shawn S McCarter Robert R Seminara Jennifer J Yudkoff Mark M LeMons Cynthia C

Genetics in medicine : official journal of the American College of Medical Genetics 20190724 1

The National Institutes of Health (NIH) established the Rare Diseases Clinical Research Network to address the unique challenges of performing research on rare diseases. The Urea Cycle Disorders Consortium (UCDC) was one of the original ten consortia established. The UCDC represents a unique partnership among clinicians, patients, and the NIH with a primary goal of increasing the development of therapeutics that improve patient outcomes for persons affected with a UCD. Based in part on financial ...[more]

PMID: 31337884

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Project description:BackgroundGiven the geographical sparsity of Rare Diseases (RDs), assembling a cohort is often a challenging task. Common data models (CDM) can harmonize disparate sources of data that can be the basis of decision support systems and artificial intelligence-based studies, leading to new insights in the field. This work is sought to support the design of large-scale multi-center studies for rare diseases.MethodsIn an interdisciplinary group, we derived a list of elements of RDs in three medical domains (endocrinology, gastroenterology, and pneumonology) according to specialist knowledge and clinical guidelines in an iterative process. We then defined a RDs data structure that matched all our data elements and built Extract, Transform, Load (ETL) processes to transfer the structure to a joint CDM. To ensure interoperability of our developed CDM and its subsequent usage for further RDs domains, we ultimately mapped it to Observational Medical Outcomes Partnership (OMOP) CDM. We then included a fourth domain, hematology, as a proof-of-concept and mapped an acute myeloid leukemia (AML) dataset to the developed CDM.ResultsWe have developed an OMOP-based rare diseases common data model (RD-CDM) using data elements from the three domains (endocrinology, gastroenterology, and pneumonology) and tested the CDM using data from the hematology domain. The total study cohort included 61,697 patients. After aligning our modules with those of Medical Informatics Initiative (MII) Core Dataset (CDS) modules, we leveraged its ETL process. This facilitated the seamless transfer of demographic information, diagnoses, procedures, laboratory results, and medication modules from our RD-CDM to the OMOP. For the phenotypes and genotypes, we developed a second ETL process. We finally derived lessons learned for customizing our RD-CDM for different RDs.DiscussionThis work can serve as a blueprint for other domains as its modularized structure could be extended towards novel data types. An interdisciplinary group of stakeholders that are actively supporting the project's progress is necessary to reach a comprehensive CDM.ConclusionThe customized data structure related to our RD-CDM can be used to perform multi-center studies to test data-driven hypotheses on a larger scale and take advantage of the analytical tools offered by the OHDSI community.

Project description:BackgroundIn this study, we sought to assess healthcare professionals' acceptance of and satisfaction with a shared decision making (SDM) educational workshop, its impact on their intention to use SDM, and their perceived facilitators and barriers to the implementation of SDM in clinical settings in Iran.MethodsWe conducted an observational quantitative study that involved measurements before, during, and immediately after the educational intervention at stake. We invited healthcare professionals affiliated with Tabriz University of Medical Sciences, East Azerbaijan, Iran, to attend a half-day workshop on SDM in December 2016. Decisions about prenatal screening and knee replacement surgery was used as clinical vignettes. We provided a patient decision aid on prenatal screening that complied with the International Patient Decision Aids Standards and used illustrate videos. Participants completed a sociodemographic questionnaire and a questionnaire to assess their familiarity with SDM, a questionnaire based on theoretical domains framework to assess their intention to implement SDM, a questionnaire about their perceived facilitators and barriers of implementing SDM in their clinical practice, continuous professional development reaction questionnaire, and workshop evaluation. Quantitative data was analyzed descriptively and with multiple linear regression.ResultsAmong the 60 healthcare professionals invited, 41 participated (68%). Twenty-three were female (57%), 18 were specialized in family and emergency medicine, or community and preventive medicine (43%), nine were surgeons (22%), and 14 (35%) were other types of specialists. Participants' mean age was 37.51 ± 8.64 years with 8.09 ± 7.8 years of clinical experience. Prior to the workshop, their familiarity with SDM was 3.10 ± 2.82 out of 9. After the workshop, their belief that practicing SDM would be beneficial and useful (beliefs about consequences) (beta = 0.67, 95% CI 0.27, 1.06) and beliefs about capability of using SDM (beta = 0.32, 95% CI -0.08, 0.72) had the strongest influence on their intention of practicing SDM. Participants perceived the main facilitator and barrier to perform SDM were training and high patient load, respectively.ConclusionsParticipants thought the workshop was a good way to learn SDM and that they would be able to use what they had learned in their clinical practice. Future studies need to study the level of intention of participants in longer term and evaluate the impact of cultural differences on practicing SDM and its implementation in both western and non-western countries.

Project description:BACKGROUND:Historical changes in the nature of sedentary activities have been observed in other countries, but it is not clear if similar trends exist in Canada. It is also unclear how changes in the measurement of sedentary behaviour affects national estimates. Our objective is to document all sources and measures of sedentary behaviour from Canadian, nationally representative surveys, and report on selected estimates of time spent in sedentary activities. Lessons learned can benefit the wider international surveillance community. METHODS:We describe and document all data sources of sedentary behaviour at the national level in Canada, and report on selected prevalence data from repeated cross-sectional surveys. We summarize amounts of total device-assessed sedentary time and self-reported sedentary activities (e.g., passive travel, leisure television, computer, video games, screen, and reading) by age group over time. RESULTS:Nineteen national surveys were identified. Changes in questions and/or response categories precluded direct assessment of trends over time for some measures; however, certain trends were observed. Accelerometer-measured sedentary time, leisure reading (among those < 50 years) and television/video viewing in younger age groups have remained relatively stable (with a possible slight decline in television/video viewing). Time spent in passive travel and leisure computer and electronic device use appears to have increased. Television and video viewing appears to have increased in older adults while their leisure reading appears to have fallen. CONCLUSIONS:Changes in measurement of sedentary behaviour can affect estimates and reduce comparability over time. Total leisure screen use appears to have increased over time, reflecting the ways in which Canadians spend their free time and technological advances. The main public health message is the need for continued efforts to reduce leisure screen use, especially among youth and older adults.

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Developing interactions with industry in rare diseases: lessons learned and continuing challenges.

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Developing interactions with industry in rare diseases: lessons learned and continuing challenges.

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