Data sharing to advance gene‐targeted therapies in rare diseases

Lekstrom-Himes, Julie; Augustine, Erika F.; Brower, Amy; Defay, Thomas; Finkel, Richard S.; McGuire, Amy L.; Skinner, Mark W; Yu, Timothy W.

doi:10.1002/ajmg.c.32028

Cited by 8 publications

(4 citation statements)

References 38 publications

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“… 53 Building robust data-sharing systems will speed drug discovery, optimize trial design and execution, and enable long-term follow-up of treated patients to assure unbiased assessments by all stakeholders of the relative efficacy and safety of new treatments. 54 Leveraging the data systems through artificial intelligence and machine learning will lead to further insight into and across multiple rare diseases. Finally, the value of considering groups of conditions together, despite regulatory challenges, rather than the current system of focusing on one rare disease at a time.…”

Section: Discussionmentioning

confidence: 99%

The Rare Diseases Clinical Research Network: a model for clinical trial readiness

Lumsden,

Urv

2023

Therapeutic Advances in Rare Disease

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Background: The current road to developing treatments for rare diseases is often slow, expensive, and riddled with risk. Change is needed to improve the process, both in how we think about rare disease treatment development and the infrastructure we build to support ongoing science. The National Institutes of Health (NIH)-supported Rare Diseases Clinical Research Network (RDCRN) was established to advance the diagnosis, management, and treatment of rare diseases and to promote highly collaborative, multi-site, patient-centric, translational, and clinical research. The current iteration of the RDCRN intends to build upon and enhance successful approaches within the network while identifying innovative methods to fill gaps and address needs in the approach to the rare disease treatment development process through innovation, collaboration, and clinical trial readiness. Objective: The objective of this paper is to provide an overview of the productivity and influence of the RDCRN since it was first established 20 years ago. Design and methods: Using a suite of tools available to NIH staff that provides access to a comprehensive, curated, extensively linked data set of global grants, patents, publications, clinical trials, and FDA-approved drugs, a series of queries were executed that conducted bibliometric, co-author, and co-occurrence analysis. Results: The results demonstrate that the entire RDCRN consortia and network has been highly productive since its inception. They have produced 2763 high-quality publications that have been cited more than 100,000 times, expanded international networks, and contributed scientifically to eight FDA-approved treatments for rare diseases. Conclusion: The RDCRN program has successfully addressed some significant challenges while developing treatments for rare diseases. However, looking to the future and being agile in facing new challenges that arise as science progresses is important.

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Section: Discussionmentioning

confidence: 99%

The Rare Diseases Clinical Research Network: a model for clinical trial readiness

Lumsden,

Urv

2023

Therapeutic Advances in Rare Disease

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“…Since we took into account the structure of haemophilia registries during the development phase, we anticipate that the navigator will streamline registry data collection in our institution. In fact, with the advent of new therapies and especially gene therapy, long‐term collection of data on treatment safety and efficacy in international registries and safety surveillance databases such as the European Haemophilia Safety Surveillance system (EUHASS) is crucial 24,25 . Although web applications such as those of the EUHASS and the ATHNdataset exist for collecting extensive health data of haemophilia patients, 25,26 they are designed solely for data collection, unlike our haemophilia navigator which is designed for comprehensive clinical documentation.…”

Section: Discussionmentioning

confidence: 99%

Building a haemophilia‐specific navigator in Epic® Electronic Health Records: Single‐centre preliminary experience

Krumb,

Vanlangendonck,

Lambert

et al. 2023

Haemophilia

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IntroductionWith the increasing complexity of haemophilia care and the advent of numerous therapeutic innovations, there is an unmet need for documentation and data collection tools tailored to people with haemophilia (PwH). To date, no fully integrated haemophilia‐specific electronic health record (EHR) has been described in the literature.AimTo evaluate the feasibility of integrating a haemophilia‐specific navigator into the Epic EHR.MethodsBased on clinical experience and registry datasets, we identified key variables describing both PwH and carriers of haemophilia. These were then incorporated into a REDCap database, which served as a starting point for the development of a comprehensive haemophilia flowsheet. We built a dedicated haemophilia navigator within Epic that includes a flowsheet featuring up to 212 variables, as well as customised note templates and patient lists integrating data from the haemophilia flowsheet.ResultsIt was feasible to develop a haemophilia navigator within Epic over the course of 12 months. The navigator's flowsheet enables systematic and comprehensive clinical assessment of PwH and carriers, while customised patient lists provide a quick summary of each patient's profile to the haemophilia treatment centre staff and highlight issues that require an intervention. In our clinical practice, patients actively participated in the new documentation process and responded positively to the navigator.ConclusionAdapting EHRs to the needs of PwH and carriers promotes holistic care for this population and provides an opportunity for patient empowerment. Such haemophilia‐specific EHRs are expected to promote standardisation of care and facilitate the collection of registry data on a national and international level.

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“…Growing efforts have been devoted to the alignment of data elements across data collections which is at the basis of data sharing and plays a critical role both in care and research initiatives [ 13 , 14 ]. At European level the Platform on Rare Disease Registration (EU RD Platform) aims to address the fragmentation of rare disease (RD) patient data through the establishment of integration and interoperability standards.…”

Section: Introductionmentioning

confidence: 99%

ORPHAcodes use for the coding of rare diseases: comparison of the accuracy and cross country comparability

Mazzucato,

Pozza,

Facchin

et al. 2023

Orphanet J Rare Dis

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Background Estimates of rare disease (RD) population impact in terms of number of affected patients and accurate disease definition is hampered by their under-representation in current coding systems. This study tested the use of a specific RD codification system (ORPHAcodes) in five European countries/regions (Czech Republic, Malta, Romania, Spain, Veneto region-Italy) across different data sources over the period January 2019-September 2021. Results Overall, 3133 ORPHAcodes were used to describe RD diagnoses, mainly corresponding to the disease/subtype of disease aggregation level of the Orphanet classification (82.2%). More than half of the ORPHAcodes (53.6%) described diseases having a very low prevalence (< 1 case per million), and most commonly captured rare developmental defects during embryogenesis (31.3%) and rare neurological diseases (17.6%). ORPHAcodes described disease entities more precisely than corresponding ICD-10 codes in 83.4% of cases. Conclusions ORPHAcodes were found to be a versatile resource for the coding of RD, able to assure easiness of use and inter-country comparability across population and hospital databases. Future research on the impact of ORPHAcoding as to the impact of numbers of RD patients with improved coding in health information systems is needed to inform on the real magnitude of this public health issue.

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Data sharing to advance gene‐targeted therapies in rare diseases

Cited by 8 publications

References 38 publications

The Rare Diseases Clinical Research Network: a model for clinical trial readiness

The Rare Diseases Clinical Research Network: a model for clinical trial readiness

Building a haemophilia‐specific navigator in Epic® Electronic Health Records: Single‐centre preliminary experience

ORPHAcodes use for the coding of rare diseases: comparison of the accuracy and cross country comparability

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