Recommendations for Improving the Quality of Rare Disease Registries

Kodra, Yllka; Weinbach, Jérôme; Paz, Manuel Posada de la; Coi, Alessio; Lemonnier, Sylvie; Enckevort, David van; Roos, Marco; Jacobsen, Annika; Cornet, Ronald; Ahmed, S Faisal; Bros-Facer, Virginie; Popa, Veronica; Meel, Marieke van; Renault, Daniel; Gizycki, Rainald von; Santoro, Michele; Landais, Paul; Torreri, Paola; Carta, Claudio; Mascalzoni, Deborah; Gainotti, Sabina; López, Estrella Montes; Ambrosini, Anna; Müller, Heimo; Reis, Robert I.; Bianchi, Fabrizio; Rubinstein, Yaffa; Lochmüller, Hanns; Taruscio, Domenica

doi:10.3390/ijerph15081644

Cited by 145 publications

(162 citation statements)

References 21 publications

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“…For many years, clinicians have made efforts to improve their local patient forms and electronic systems to improve care of patients with chronic diseases [25]. For rare diseases, this is particularly important [26,27]. CF is a characteristic example of a rare disease that has benefited greatly from large long-standing registries [28][29][30].…”

Section: Discussionmentioning

confidence: 99%

Standardised clinical data from patients with primary ciliary dyskinesia: FOLLOW-PCD

Goutaki

Papon

Boon³

et al. 2020

ERJ Open Res

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Clinical data on primary ciliary dyskinesia (PCD) are limited, heterogeneous and mostly derived from retrospective chart reviews, leading to missing data and unreliable symptoms and results of physical examinations. We need standardised prospective data collection to study phenotypes, severity and prognosis and improve standards of care.A large, international and multidisciplinary group of PCD experts developed FOLLOW-PCD, a standardised clinical PCD form and patient questionnaire. We identified existing forms for clinical data collection via the Better Experimental Approaches to Treat PCD (BEAT-PCD) COST Action network and a literature review. We selected and revised the content items with the working group and patient representatives. We then revised several drafts in an adapted Delphi process, refining the content and structure.FOLLOW-PCD has a modular structure, to allow flexible use based on local practice and research focus. It includes patient-completed versions for the modules on symptoms and lifestyle. The form allows a comprehensive standardised clinical assessment at baseline and for annual reviews and a short documentation for routine follow-up. It can either be completed using printable paper forms or using an online REDCap database.Data collected in FOLLOW-PCD version 1.0 is available in real-time for national and international monitoring and research. The form will be adapted in the future after extensive piloting in different settings and we encourage the translation of the patient questionnaires to multiple languages. FOLLOW-PCD will facilitate quality research based on prospective standardised data from routine care, which can be pooled between centres, to provide first-line and real-time evidence for clinical decision-making.

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Section: Discussionmentioning

confidence: 99%

Standardised clinical data from patients with primary ciliary dyskinesia: FOLLOW-PCD

Goutaki

Papon

Boon³

et al. 2020

ERJ Open Res

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“…The sustainability of a registry is a key challenge faced by most patient registries [35]. Agility, high quality data, robust secondary objectives, retaining patient engagement and maintenance of funding are all key aspects to support the sustainability of patient registries [36]. The sustainability of the architecture of the registry has been outlined above to retain flexibility for adding new diagnostic measures and data sources; further consideration of sustainability with regard to patient engagement and relevance of data collection and analysis will take place in the alpha phase.…”

Section: Strengths and Weaknessesmentioning

confidence: 99%

Engineering Requirements of a Herpes Simplex Virus Patient Registry: Discovery Phase of a Real-World Evidence Platform to Advance Pharmacogenomics and Personalized Medicine

Surodina¹,

Lam

Cock

et al. 2019

Biomedicines

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Comprehensive pharmacogenomic understanding requires both robust genomic and demographic data. Patient registries present an opportunity to collect large amounts of robust, patient-level data. Pharmacogenomic advancement in the treatment of infectious diseases is yet to be fully realised. Herpes simplex virus (HSV) is one disease for which pharmacogenomic understanding is wanting. This paper aims to understand the key factors that impact data collection quality for medical registries and suggest potential design features of an HSV medical registry to overcome current constraints and allow for this data to be used as a complement to genomic and clinical data to further the treatment of HSV. This paper outlines the discovery phase for the development of an HSV registry with the aim of learning about the users and their contexts, the technological constraints and the potential improvements that can be made. The design requirements and user stories for the HSV registry have been identified for further alpha phase development. The current landscape of HSV research and patient registry development were discussed. Through the analysis of the current state of the art and thematic user analysis, potential design features were elucidated to facilitate the collection of high-quality, robust patient-level data which could contribute to advances in pharmacogenomic understanding and personalised medicine in HSV. The user requirements specification for the development of an HSV registry has been summarised and implementation strategies for the alpha phase discussed.

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“…This project overviewed the current situation and experience of national RDRs in Europe [6,7]. The study was used to classify RDRs [8], assess and characterize their quality [9], resulting in a set of core recommendations for RD patient registration and data collection [10][11][12].…”

Section: Introductionmentioning

confidence: 99%

The DM-scope registry: a rare disease innovative framework bridging the gap between research and medical care

Antonio¹,

Dogan²,

Daidj³

et al. 2019

Orphanet J Rare Dis

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Background: The relevance of registries as a key component for developing clinical research for rare diseases (RD) and improving patient care has been acknowledged by most stakeholders. As recent studies pointed to several limitations of RD registries our challenge was (1) to improve standardization and data comparability; (2) to facilitate interoperability between existing RD registries; (3) to limit the amount of incomplete data; (4) to improve data quality. This report describes the innovative concept of the DM-Scope Registry that was developed to achieve these objectives for Myotonic Dystrophy (DM), a prototypical example of highly heterogeneous RD. By the setting up of an integrated platform attractive for practitioners use, we aimed to promote DM epidemiology, clinical research and patients care management simultaneously. Results: The DM-Scope Registry is a result of the collaboration within the French excellence network established by the National plan for RDs. Inclusion criteria is all genetically confirmed DM individuals, independently of disease age of onset. The dataset includes social-demographic data, clinical features, genotype, and biomaterial data, and is adjustable for clinical trial data collection. To date, the registry has a nationwide coverage, composed of 55 neuromuscular centres, encompassing the whole disease clinical and genetic spectrum. This widely used platform gathers almost 3000 DM patients (DM1 n = 2828, DM2 n = 142), both children (n = 322) and adults (n = 2648), which accounts for > 20% of overall registered DM patients internationally. The registry supported 10 research studies of various type i.e. observational, basic science studies and patient recruitment for clinical trials. Conclusion: The DM-Scope registry represents the largest collection of standardized data for the DM population. Our concept improved collaboration among health care professionals by providing annual follow-up of quality longitudinal data collection. The combination of clinical features and biomolecular materials provides a comprehensive view of the disease in a given population. DM-Scope registry proves to be a powerful device for promoting both research and medical care that is suitable to other countries. In the context of emerging therapies, such integrated platform contributes to the standardisation of international DM research and for the design of multicentre clinical trials. Finally, this valuable model is applicable to other RDs.

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Recommendations for Improving the Quality of Rare Disease Registries

Cited by 145 publications

References 21 publications

Standardised clinical data from patients with primary ciliary dyskinesia: FOLLOW-PCD

Standardised clinical data from patients with primary ciliary dyskinesia: FOLLOW-PCD

Engineering Requirements of a Herpes Simplex Virus Patient Registry: Discovery Phase of a Real-World Evidence Platform to Advance Pharmacogenomics and Personalized Medicine

The DM-scope registry: a rare disease innovative framework bridging the gap between research and medical care

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