U-IMD: The first Unified European registry for Inherited Metabolic Diseases

Abstract Background: Following the broad application of new analytical methods, more and more pathophysiological processes in previously unknown diseases have been elucidated. The spectrum of clinical presentation of rare inherited metabolic diseases (IMDs) is broad and ranges from single organ involvement to multisystemic diseases. With the aim of overcoming the limited knowledge about the natural course, current diagnostic and therapeutic approaches, the project has established the first unified patient registry for IMDs that fully meets the requirements of the European Infrastructure for Rare Diseases (ERDRI). Results : In collaboration with the European Reference Network for Rare Hereditary Metabolic Disorders (MetabERN), the Unified European registry for Inherited Metabolic Diseases (U-IMD) was established to collect patient data as an observational, non-interventional natural history study. Following the recommendations of the ERDRI the U-IMD registry uses common data elements to define the IMDs, report the clinical phenotype, describe the biochemical markers and to capture the drug treatment. Until today, more than 1100 IMD patients have been registered. Conclusion: The U-IMD registry is the first observational, non-interventional patient registry that encompasses all known IMDs. Full semantic interoperability for other registries has been achieved, as demonstrated by the use of a minimum common core data set for equivalent description of metabolic patients in U-IMD and in the patient registry of the European Rare Kidney Disease Reference Network (ERKNet). In conclusion, the U-IMD registry will contribute to a better understanding of the long-term course of IMDs and improved patients care by understanding the natural disease course and by enabling an optimization of diagnostic and therapeutic strategies.

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U-IMD: the first Unified European registry for inherited metabolic diseases

Orphanet Journal of Rare Diseases ◽

10.1186/s13023-021-01726-3 ◽

2021 ◽

Vol 16 (1) ◽

Author(s):

Thomas Opladen ◽

Florian Gleich ◽

Viktor Kozich ◽

Maurizio Scarpa ◽

Diego Martinelli ◽

...

Keyword(s):

Metabolic Diseases ◽

Patient Registry ◽

Reference Network ◽

Data Set ◽

Common Data Elements ◽

Inherited Metabolic Diseases ◽

European Reference Network ◽

Collect Patient Data ◽

Data Elements ◽

European Registry

Abstract Background Following the broad application of new analytical methods, more and more pathophysiological processes in previously unknown diseases have been elucidated. The spectrum of clinical presentation of rare inherited metabolic diseases (IMDs) is broad and ranges from single organ involvement to multisystemic diseases. With the aim of overcoming the limited knowledge about the natural course, current diagnostic and therapeutic approaches, the project has established the first unified patient registry for IMDs that fully meets the requirements of the European Infrastructure for Rare Diseases (ERDRI). Results In collaboration with the European Reference Network for Rare Hereditary Metabolic Disorders (MetabERN), the Unified European registry for Inherited Metabolic Diseases (U-IMD) was established to collect patient data as an observational, non-interventional natural history study. Following the recommendations of the ERDRI the U-IMD registry uses common data elements to define the IMDs, report the clinical phenotype, describe the biochemical markers and to capture the drug treatment. Until today, more than 1100 IMD patients have been registered. Conclusion The U-IMD registry is the first observational, non-interventional patient registry that encompasses all known IMDs. Full semantic interoperability for other registries has been achieved, as demonstrated by the use of a minimum common core data set for equivalent description of metabolic patients in U-IMD and in the patient registry of the European Rare Kidney Disease Reference Network (ERKNet). In conclusion, the U-IMD registry will contribute to a better understanding of the long-term course of IMDs and improved patients care by understanding the natural disease course and by enabling an optimization of diagnostic and therapeutic strategies.

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U-IMD: The First Unified European Registry for Inherited Metabolic Diseases

10.21203/rs.3.rs-101208/v1 ◽

2020 ◽

Author(s):

Thomas Opladen ◽

Florian Gleich ◽

Viktor Kozich ◽

Maurizio Scarpa ◽

Diego Martinelli ◽

...

Keyword(s):

Metabolic Diseases ◽

Patient Registry ◽

Reference Network ◽

Data Set ◽

Common Data Elements ◽

Inherited Metabolic Diseases ◽

European Reference Network ◽

Collect Patient Data ◽

Data Elements ◽

European Registry

Abstract Background: Following the broad application of new analytical methods, more and more pathophysiological processes in previously unknown diseases have been elucidated. The spectrum of clinical presentation of rare inherited metabolic diseases (IMDs) is broad and ranges from single organ involvement to multisystemic diseases. With the aim of overcoming the limited knowledge about the natural course, current diagnostic and therapeutic approaches, the project has established the first unified patient registry for IMDs that fully meets the requirements of the European Infrastructure for Rare Diseases (ERDRI). Results: In collaboration with the European Reference Network for Rare Hereditary Metabolic Disorders (MetabERN), the Unified European registry for Inherited Metabolic Diseases (U-IMD) was established to collect patient data as an observational, non-interventional natural history study. Following the recommendations of the ERDRI the U-IMD registry uses common data elements to define the IMDs, report the clinical phenotype, describe the biochemical markers and to capture the drug treatment. Until today, more than 1100 IMD patients have been registered.Conclusion: The U-IMD registry is the first observational, non-interventional patient registry that encompasses all known IMDs. Full semantic interoperability for other registries has been achieved, as demonstrated by the use of a minimum common core data set for equivalent description of metabolic patients in U-IMD and in the patient registry of the European Rare Kidney Disease Reference Network (ERKNet). In conclusion, the U-IMD registry will contribute to a better understanding of the long-term course of IMDs and improved patients care by understanding the natural disease course and by enabling an optimization of diagnostic and therapeutic strategies.

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U-IMD: The first Unified European registry for Inherited Metabolic Diseases

10.21203/rs.3.rs-101208/v2 ◽

2021 ◽

Author(s):

Thomas Opladen ◽

Florian Gleich ◽

Viktor Kozich ◽

Maurizio Scarpa ◽

Diego Martinelli ◽

...

Keyword(s):

Metabolic Diseases ◽

Patient Registry ◽

Reference Network ◽

Data Set ◽

Common Data Elements ◽

Inherited Metabolic Diseases ◽

European Reference Network ◽

Collect Patient Data ◽

Data Elements ◽

European Registry

Abstract Background: Following the broad application of new analytical methods, more and more pathophysiological processes in previously unknown diseases have been elucidated. The spectrum of clinical presentation of rare inherited metabolic diseases (IMDs) is broad and ranges from single organ involvement to multisystemic diseases. With the aim of overcoming the limited knowledge about the natural course, current diagnostic and therapeutic approaches, the project has established the first unified patient registry for IMDs that fully meets the requirements of the European Infrastructure for Rare Diseases (ERDRI). Results: In collaboration with the European Reference Network for Rare Hereditary Metabolic Disorders (MetabERN), the Unified European registry for Inherited Metabolic Diseases (U-IMD) was established to collect patient data as an observational, non-interventional natural history study. Following the recommendations of the ERDRI the U-IMD registry uses common data elements to define the IMDs, report the clinical phenotype, describe the biochemical markers and to capture the drug treatment. Until today, more than 1100 IMD patients have been registered.Conclusion: The U-IMD registry is the first observational, non-interventional patient registry that encompasses all known IMDs. Full semantic interoperability for other registries has been achieved, as demonstrated by the use of a minimum common core data set for equivalent description of metabolic patients in U-IMD and in the patient registry of the European Rare Kidney Disease Reference Network (ERKNet). In conclusion, the U-IMD registry will contribute to a better understanding of the long-term course of IMDs and improved patients care by understanding the natural disease course and by enabling an optimization of diagnostic and therapeutic strategies.

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The European Reference Network Program for Hereditary Metabolic Diseases (MetabERN)

Molecular Genetics and Metabolism ◽

10.1016/j.ymgme.2018.12.335 ◽

2019 ◽

Vol 126 (2) ◽

pp. S130-S131

Author(s):

Maurizio Scarpa

Keyword(s):

Metabolic Diseases ◽

Reference Network ◽

European Reference Network ◽

Hereditary Metabolic Diseases ◽

Network Program

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The impact of COVID-19 on rare metabolic patients and healthcare providers: results from two MetabERN surveys

Orphanet Journal of Rare Diseases ◽

10.1186/s13023-020-01619-x ◽

2020 ◽

Vol 15 (1) ◽

Author(s):

C. Lampe ◽

◽

C. Dionisi-Vici ◽

C. M. Bellettato ◽

L. Paneghetti ◽

...

Keyword(s):

Metabolic Diseases ◽

Healthcare Providers ◽

Relevant Information ◽

European Population ◽

Reference Network ◽

Long Term Effects ◽

European Reference Network ◽

Hereditary Metabolic Diseases ◽

Hospital To Home ◽

The Impact

AbstractThe ongoing coronavirus disease 2019 (COVID-19) pandemic has caused disruption in all aspects of daily life, including the management and treatment of rare inherited metabolic disorders (IMDs). To perform a preliminary assessment of the incidence of COVID-19 in IMD patients and the impact of the coronavirus emergency on the rare metabolic community between March and April 2020, the European Reference Network for Hereditary Metabolic Diseases (MetabERN) has performed two surveys: one directed to patients’ organizations (PO) and one directed to healthcare providers (HCPs). The COVID-19 incidence in the population of rare metabolic patients was lower than that of the general European population (72.9 × 100,000 vs. 117 × 100,000). However, patients experienced extensive disruption of care, with the majority of appointments and treatments cancelled, reduced, or postponed. Almost all HCPs (90%) were able to substitute face-to-face visits with telemedicine, about half of patients facing treatment changes switched from hospital to home therapy, and a quarter reported difficulties in getting their medicines. During the first weeks of emergency, when patients and families lacked relevant information, most HCPs contacted their patients to provide them with support and information. Since IMD patients require constant follow-up and treatment adjustments to control their disease and avoid degradation of their condition, the results of our surveys are relevant for national health systems in order to ensure appropriate care for IMD patients. They highlight strong links in an interconnected community of HCPs and PO, who are able to work quickly and effectively together to support and protect fragile persons during crisis. However, additional studies are needed to better appreciate the actual impact of COVID-19 on IMD patients’ health and the mid- and long-term effects of the pandemic on their wellbeing.

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A Generic Data Harmonization Process for Cross-linked Research and Network Interaction

Methods of Information in Medicine ◽

10.3414/me14-02-0030 ◽

2015 ◽

Vol 54 (05) ◽

pp. 455-460 ◽

Cited By ~ 4

Author(s):

M. Ganzinger ◽

T. Muley ◽

M. Thomas ◽

P. Knaup ◽

D. Firnkorn

Keyword(s):

Lung Cancer ◽

Research Networks ◽

Data Set ◽

Common Data Elements ◽

Cancer Data ◽

Data Harmonization ◽

Wide Range ◽

Harmonization Process ◽

Cancer Phenotype ◽

Data Elements

Summary Objective: Joint data analysis is a key requirement in medical research networks. Data are available in heterogeneous formats at each network partner and their harmonization is often rather complex. The objective of our paper is to provide a generic approach for the harmonization process in research networks. We applied the process when harmonizing data from three sites for the Lung Cancer Phenotype Database within the German Center for Lung Research. Methods: We developed a spreadsheet-based solution as tool to support the harmonization process for lung cancer data and a data integration procedure based on Talend Open Studio. Results: The harmonization process consists of eight steps describing a systematic approach for defining and reviewing source data elements and standardizing common data elements. The steps for defining common data elements and harmonizing them with local data definitions are repeated until consensus is reached. Application of this process for building the phenotype database led to a common basic data set on lung cancer with 285 structured parameters. The Lung Cancer Phenotype Database was realized as an i2b2 research data warehouse. Conclusion: Data harmonization is a challenging task requiring informatics skills as well as domain knowledge. Our approach facilitates data harmonization by providing guidance through a uniform process that can be applied in a wide range of projects.

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Challenges in Transition From Childhood to Adulthood Care in Rare Metabolic Diseases: Results From the First Multi-Center European Survey

Frontiers in Medicine ◽

10.3389/fmed.2021.652358 ◽

2021 ◽

Vol 8 ◽

Author(s):

Karolina M. Stepien ◽

Beata Kieć-Wilk ◽

Christina Lampe ◽

Trine Tangeraas ◽

Graziella Cefalo ◽

...

Keyword(s):

Metabolic Diseases ◽

Healthcare Providers ◽

Transition Process ◽

Pediatric Care ◽

Reference Network ◽

Emergency Plan ◽

Process Data ◽

Successful Transition ◽

European Reference Network ◽

Key Aspects

Inherited Metabolic Diseases (IMDs) are rare diseases caused by genetic defects in biochemical pathways. Earlier diagnosis and advances in treatment have improved the life expectancy of IMD patients over the last decades, with the majority of patients now surviving beyond the age of 20. This has created a new challenge: as they grow up, the care of IMD patients' needs to be transferred from metabolic pediatricians to metabolic physicians specialized in treating adults, through a process called “transition.” The purpose of this study was to assess how this transition is managed in Europe: a survey was sent to all 77 centers of the European Reference Network for Hereditary Metabolic Disorders (MetabERN) to collect information and to identify unmet needs regarding the transition process. Data was collected from 63/77 (81%) healthcare providers (HCPs) from 20 EU countries. Responders were mostly metabolic pediatricians; of these, only ~40% have received appropriate training in health issues of adolescent metabolic patients. In most centers (~67%) there is no designated transition coordinator. About 50% of centers provide a written individualized transition protocol, which is standardized in just ~20% of cases. In 77% of centers, pediatricians share a medical summary, transition letter and emergency plan with the adult team and the patient. According to our responders, 11% of patients remain under pediatric care throughout their life. The main challenges identified by HCPs in managing transition are lack of time and shortage of adult metabolic physician positions, while the implementations that are most required for a successful transition include: medical staff dedicated to transition, a transition coordinator, and specific metabolic training for adult physicians. Our study shows that the transition process of IMD patients in Europe is far from standardized and in most cases is inadequate or non-existent. A transition coordinator to facilitate collaboration between the pediatric and adult healthcare teams should be central to any transition program. Standardized operating procedures, together with adequate financial resources and specific training for adult physicians focused on IMDs are the key aspects that must be improved in the rare metabolic field to establish successful transition processes in Europe.

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A methodology for a minimum data set for rare diseases to support national centers of excellence for healthcare and research

Journal of the American Medical Informatics Association ◽

10.1136/amiajnl-2014-002794 ◽

2014 ◽

Vol 22 (1) ◽

pp. 76-85 ◽

Cited By ~ 19

Author(s):

Rémy Choquet ◽

Meriem Maaroufi ◽

Albane de Carrara ◽

Claude Messiaen ◽

Emmanuel Luigi ◽

...

Keyword(s):

Data Collection ◽

Rare Disease ◽

Rare Diseases ◽

Care Coordination ◽

Minimum Data Set ◽

National Plan ◽

Data Set ◽

Common Data Elements ◽

Minimum Data ◽

Data Elements

Abstract Background Although rare disease patients make up approximately 6–8% of all patients in Europe, it is often difficult to find the necessary expertise for diagnosis and care and the patient numbers needed for rare disease research. The second French National Plan for Rare Diseases highlighted the necessity for better care coordination and epidemiology for rare diseases. A clinical data standard for normalization and exchange of rare disease patient data was proposed. The original methodology used to build the French national minimum data set (F-MDS-RD) common to the 131 expert rare disease centers is presented. Methods To encourage consensus at a national level for homogeneous data collection at the point of care for rare disease patients, we first identified four national expert groups. We reviewed the scientific literature for rare disease common data elements (CDEs) in order to build the first version of the F-MDS-RD. The French rare disease expert centers validated the data elements (DEs). The resulting F-MDS-RD was reviewed and approved by the National Plan Strategic Committee. It was then represented in an HL7 electronic format to maximize interoperability with electronic health records. Results The F-MDS-RD is composed of 58 DEs in six categories: patient, family history, encounter, condition, medication, and questionnaire. It is HL7 compatible and can use various ontologies for diagnosis or sign encoding. The F-MDS-RD was aligned with other CDE initiatives for rare diseases, thus facilitating potential interconnections between rare disease registries. Conclusions The French F-MDS-RD was defined through national consensus. It can foster better care coordination and facilitate determining rare disease patients’ eligibility for research studies, trials, or cohorts. Since other countries will need to develop their own standards for rare disease data collection, they might benefit from the methods presented here.

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Information Management in Cancer Registries: Evaluating the Needs for Cancer Data Collection and Cancer Research

Online Journal of Public Health Informatics ◽

10.5210/ojphi.v7i2.5664 ◽

2015 ◽

Vol 7 (2) ◽

Cited By ~ 2

Author(s):

Iris Zachary ◽

Suzanne A Boren ◽

Eduardo Simoes ◽

Jeannette Jackson-Thompson ◽

J. Wade Davis ◽

...

Keyword(s):

Public Health ◽

Data Collection ◽

Cancer Registry ◽

Cancer Registries ◽

Registry Data ◽

Data Set ◽

Common Data Elements ◽

Cancer Registry Data ◽

Treatment Data ◽

Data Elements

Cancer registry data collection involves, at a minimum, collecting data on demographics, tumor characteristics, and treatment. A common, identified, and standardized set of data elements is needed to share data quickly and efficiently with consumers of this data. This project highlights the fact that, there is a need to develop common data elements; Surveys were developed for central cancer registries (CCRs) and cancer researchers (CRs) at NCI-designated Cancer Centers, in order to understand data needs. Survey questions were developed based on the project focus, an evaluation of the research registries and database responses, and systematic review of the literature. Questions covered the following topics: 1) Research, 2) Data collection, 3) Database/ repository, 4) Use of data, 5) Additional data items, 6) Data requests, 7) New data fields, and 8) Cancer registry data set. A review of the surveys indicates that all cancer registries’ data are used for public health surveillance, and 96% of the registries indicate the data are also used for research. Data are available online in interactive tables from over 50% of CRs and 87% of CCRs. Some other survey responses indicate that CCR treatment data are not complete for example treatment data, however cancer researchers are interested in treatment variables from CCRs. Cancer registries have many data available for review, but need to examine what data are needed and used by different entities. Cancer Registries can further enhance usage through collaborations and partnerships to connect common interests in the data by making registries visible and accessible.Keywords: Public Health; Disease Registries; Disease Reporting

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