scholarly journals The current landscape of European registries for rare endocrine conditions

2019 ◽  
Vol 180 (1) ◽  
pp. 89-98 ◽  
Author(s):  
S R Ali ◽  
J Bryce ◽  
M Cools ◽  
M Korbonits ◽  
J G Beun ◽  
...  
Keyword(s):  
Overall Response Rate ◽  
Response Rate ◽  
Disorders Of Sex Development ◽  
Participation Rate ◽  
Reference Network ◽  
Cross Border ◽  
Sex Development ◽  
European Reference Network ◽  
International Registry ◽  
Genetic Tumour

Objective To identify cross-border international registries for rare endocrine conditions that are led from Europe and to understand the extent of engagement with these registries within a network of reference centres (RCs) for rare endocrine conditions. Methods Database search of international registries and a survey of RCs in the European Reference Network for rare endocrine conditions (Endo-ERN) with an overall response rate of 82%. Results Of the 42 conditions with orphacodes currently covered within Endo-ERN, international registries exist for 32 (76%). Of 27 registries identified in the Orphanet and RD-Connect databases, Endo-ERN RCs were aware of 11 (41%). Of 21 registries identified by the RC, RD-Connect and Orphanet did not have a record of 10 (48%). Of the 29 glucose RCs, the awareness and participation rate in an international registry was highest for rare diabetes at 75 and 56% respectively. Of the 37 sex development RCs, the corresponding rates were highest for disorders of sex development at 70 and 52%. Of the 33 adrenal RCs, the rates were highest for adrenocortical tumours at 68 and 43%. Of the 43 pituitary RCs, the rates were highest for pituitary adenomas at 43 and 29%. Of the 31 genetic tumour RCs, the rates were highest for MEN1 at 26 and 9%. For the remaining conditions, awareness and participation in registries was less than 25%. Conclusion Although there is a need to develop new registries for rare endocrine conditions, there is a more immediate need to improve the awareness and participation in existing registries.

scholarly journals Boosting care and knowledge about hereditary cancer: European Reference Network on Genetic Tumour Risk Syndromes

2018 ◽  
Vol 18 (2) ◽  
pp. 281-284 ◽  
Author(s):  
Janet R. Vos ◽  
◽  
Lisette Giepmans ◽  
Claas Röhl ◽  
Nicoline Geverink ◽  
...  
Keyword(s):  
Hereditary Cancer ◽  
Reference Network ◽  
European Reference Network ◽  
Genetic Tumour

scholarly journals The Registry Data Warehouse in the European Reference Network for Rare Respiratory Diseases – Background, Conception and Implementation

2021 ◽  
Author(s):  
Jannik Schaaf ◽  
James Chalmers ◽  
Heymut Omran ◽  
Petra Pennekamp ◽  
Olivier Sitbon ◽  
...  
Keyword(s):  
Data Warehouse ◽  
Data Exchange ◽  
Respiratory Diseases ◽  
Registry Data ◽  
Reference Network ◽  
The European Union ◽  
Aggregated Data ◽  
Cross Border ◽  
European Reference Network ◽  
Registry System

Rare lung diseases affect 1.5–3 million people in Europe while causing bad prognosis or early deaths for patients. The European Reference Network for Respiratory Diseases (ERN-Lung) is a patient centric network, funded by the European Union (EU). The aims of ERN-LUNG is to increase healthcare and research regarding rare respiratory diseases. An initial need for cross-border healthcare and research is the use of registries and databases. A typical problem in registries for RDs is the data exchange, since the registries use different kind of data with different types or descriptions. Therefore, ERN-Lung decided to create a new Registry Data-Warehouse (RDW) where different existing registries are connected to enable cross-border healthcare within ERN-Lung. This work facilitates the aims, conception and implementation for the RDW, while considering a semantic interoperability approach. We created a common dataset (CDS) to have a common descriptions of respiratory diseases patients within the ERN registries. We further developed the RDW based on Open Source Registry System for Rare Diseases (OSSE), which includes a Metadata Repository with the Samply.MDR to unique describe data for the minimal dataset. Within the RDW, data from existing registries is not stored in a central database. The RDW uses the approach of the “Decentral Search” and can send requests to the connected registries, whereas only aggregated data is returned about how many patients with specific characteristics are available. However, further work is needed to connect the different existing registries to the RDW and to perform first studies.

scholarly journals SUN-070 European Registries for Rare Endocrine Conditions (EuRRECa): Results from the Platform for E-reporting of Rare Endocrine Conditions (e-REC)

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Salma R Ali ◽  
Jillian Bryce ◽  
Martine Cools ◽  
Thomas Danne ◽  
Mehul T Dattani ◽  
...  
Keyword(s):  
Median Number ◽  
Reference Network ◽  
Clinical Activity ◽  
Monthly Basis ◽  
Web Based ◽  
Electronic Reporting ◽  
Sex Development ◽  
European Reference Network ◽  
Reporting Programme ◽  
Network Methods

Abstract Background EuRRECa (European Registries for Rare Endocrine Conditions) is a group of web-based projects that work closely with the European Reference Network (ERN) for Rare Endocrine Conditions (endo-ern.eu) and helps the ERN with inventorying its clinical activity. To understand the number of new encounters of rare conditions within this network, it has launched an e-reporting programme for rare endocrine conditions (e-REC) that are covered within this network. Methods 46 endocrine centres within 18 countries volunteered to participate in e-REC from July 2018 to June 2019. An electronic reporting ‘card’ developed through REDcap was issued monthly to enquire whether clinicians had encountered a new case of any condition within the 8 Endo-ERN main thematic groups (MTGs). Results On a monthly basis over 1 year, a median of 14 (range 11, 21) paediatric centres and 13 (11, 25) adult centres actively reported cases. A median of 53 (22, 80) paediatric cases and 96 (42, 250) adult cases were reported monthly. Amongst paediatric cases, conditions within the Sex Development and Maturation (SDM) theme were most commonly reported comprising 38% of all reported conditions, with XY, DSD being the most commonly reported condition (24% of cases). Amongst adults, Pituitary and Thyroid conditions were most commonly reported, 34% and 26% of all conditions, respectively. Amongst conditions within the Pituitary group, pituitary adenoma was the most commonly reported condition (74% of cases) and non-metastatic thyroid carcinoma was the most commonly reported condition (95% of cases) amongst the Thyroid group. In children, the median number of cases reported per centre was 21 (9, 32) for conditions affecting SDM. In adults, a median of 37 (6, 75) Pituitary and 22 (5, 80) Thyroid cases were reported per centre. Conclusion e-REC is a simple, yet effective, platform that can be used to capture information on new encounters with patients with several rare conditions and can be adapted to serve the needs of other discrete networks that are interested in understanding the occurrence of rare conditions.

Feasibility of testing for Chlamydia trachomatis in a general population sexual behaviour survey in Slovenia

2002 ◽  
Vol 13 (1_suppl) ◽  
pp. 5-8 ◽  
Author(s):  
I Klavs ◽  
L C Rodrigues ◽  
K Wellings ◽  
D KešE ◽  
I ŠVab
Keyword(s):  
Chlamydia Trachomatis ◽  
General Population ◽  
Sexual Behaviour ◽  
Overall Response Rate ◽  
Response Rate ◽  
Participation Rate ◽  
Face To Face ◽  
Survey Response Rate ◽  
Polymerase Chain ◽  
Genitourinary Infection

Our objective was to assess the feasibility of integrating first void urine (FVU) specimens testing for Chlamydia trachomatis genitourinary infection into a general population sexual behaviour survey. A total of 752 randomly selected respondents aged 18 to 54 were enrolled into the survey. Face to face interviewing with self-administered sensitive questions was used. Overall survey response rate was 77.4%. A convenience sub-sample of 83 respondents were invited to provide FVU specimens for confidential testing for C. trachomatis genitourinary infection. Fifty-five complied. This resulted in 66% FVU specimen participation rate among targeted respondents. Two specimens tested positive by Amplicor polymerase chain reaction. High feasibility study overall response rate indicated good acceptability of the survey. It proved feasible to collect FVU specimens for C. trachomatis testing in the small sub-sample. Consequently, we proceeded with integration of testing for C. trachomatis into the ongoing main survey.

scholarly journals Peptide hormone analysis in diagnosis and treatment of Differences of Sex Development: joint position paper of EU COST Action ‘DSDnet’ and European Reference Network on Rare Endocrine Conditions

2020 ◽  
Vol 182 (6) ◽  
pp. P1-P15
Author(s):  
T H Johannsen ◽  
A-M Andersson ◽  
S F Ahmed ◽  
Y B de Rijke ◽  
R F Greaves ◽  
...  
Keyword(s):  
Peptide Hormone ◽  
Position Paper ◽  
Inhibin B ◽  
Diagnosis And Treatment ◽  
Reference Network ◽  
Cost Action ◽  
Sex Development ◽  
European Reference Network ◽  
Differences Of Sex Development ◽  
Hormone Analysis

Differences of Sex Development (DSD) comprise a variety of congenital conditions characterized by atypical chromosomal, gonadal, or anatomical sex. Diagnosis and monitoring of treatment of patients suspected of DSD conditions include clinical examination, measurement of peptide and steroid hormones, and genetic analysis. This position paper on peptide hormone analyses in the diagnosis and control of patients with DSD was jointly prepared by specialists in the field of DSD and/or peptide hormone analysis from the European Cooperation in Science and Technology (COST) Action DSDnet (BM1303) and the European Reference Network on rare Endocrine Conditions (Endo-ERN). The goal of this position paper on peptide hormone analysis was to establish laboratory guidelines that may contribute to improve optimal diagnosis and treatment control of DSD. The essential peptide hormones used in the management of patients with DSD conditions are follicle-stimulating hormone, luteinising hormone, anti-Müllerian hormone, and Inhibin B. In this context, the following position statements have been proposed: serum and plasma are the preferred matrices; the peptide hormones can all be measured by immunoassay, while use of LC-MS/MS technology has yet to be implemented in a diagnostic setting; sex- and age-related reference values are mandatory in the evaluation of these hormones; and except for Inhibin B, external quality assurance programs are widely available.

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