EURO-NMD registry: federated FAIR infrastructure, innovative technologies and concepts of a patient-centred registry for rare neuromuscular disorders

被引：0

作者：

Atalaia, Antonio ^{[1
]}

Wandrei, Dagmar ^{[2
]}

Lalout, Nawel ^{[3
,4
]}

Thompson, Rachel ^{[5
]}

Tassoni, Adrian ^{[2
]}

't Hoen, Peter A. C. ^{[3
]}

Athanasiou, Dimitrios ^{[6
]}

Baker, Suzie-Ann ^{[6
]}

Sakellariou, Paraskevi ^{[7
]}

Paliouras, Georgios ^{[7
]}

D'Angelo, Carla ^{[8
]}

Horvath, Rita ^{[9
]}

Mancuso, Michelangelo ^{[10
]}

van der Beek, Nadine ^{[11
]}

Kornblum, Cornelia ^{[12
]}

Kirschner, Janbernd ^{[13
]}

Pareyson, Davide ^{[14
]}

Bassez, Guillaume ^{[15
]}

Blacas, Laura ^{[16
]}

Jacoupy, Maxime ^{[16
]}

Eng, Catherine ^{[17
]}

Lamy, Francois ^{[17
]}

Plancon, Jean-Philippe ^{[18
]}

Haberlova, Jana ^{[19
]}

Brusse, Esther ^{[11
]}

Hoeijmakers, Janneke G. J. ^{[20
,21
]}

de Visser, Marianne ^{[22
]}

Claeys, Kristl G. ^{[23
,24
,25
]}

Paradas, Carmen ^{[26
]}

Toscano, Antonio ^{[27
]}

Silani, Vincenzo ^{[28
,29
]}

Gyenge, Melinda ^{[15
]}

Reviers, Evy ^{[30
]}

Hamroun, Dalil ^{[31
]}

Vroom, Elisabeth ^{[6
]}

Wilkinson, Mark D. ^{[32
]}

Lochmuller, Hanns ^{[5
,13
]}

Evangelista, Teresinha ^{[33
,34
]}

机构：

[1] Sorbonne Univ, Inserm Ctr Res Myol, Neuromyol Serv, GH Pitie Salpetriere, Paris, France

[2] Univ Freiburg, Fac Med, Med Ctr, Clin Trials Unit, Freiburg, Germany

[3] Radboud Univ Nijmegen Med Ctr, Med BioSci Dept, Nijmegen, Netherlands

[4] Duchenne Parent Project, Veenendaal, Netherlands

[5] Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON, Canada

[6] World Duchenne Org, Veenendaal, Netherlands

[7] Duchenne Data Fdn, Bergen Op Zoom, Netherlands

[8] Univ Hosp Pitie Salpetriere APHP, Inst Myol, European Reference Network Rare Neuromuscular Dis, Paris, France

[9] Univ Cambridge, Dept Clin Neurosci, Cambridge, England

[10] Univ Pisa, Neurol Inst, Dept Clin & Expt Med, Pisa, Italy

[11] Erasmus MC Univ Med Ctr, Ctr Lysosomal & Metab Dis, Dept Neurol, Rotterdam, Netherlands

[12] Univ Hosp Bonn, Dept Neurol, Neuromuscular Dis Sect, Bonn, Germany

[13] Univ Freiburg, Fac Med, Med Ctr, Dept Neuropediat & Muscle Disorders, Freiburg, Germany

[14] Fdn IRCCS Ist Neurol Carlo Besta, Dept Clin Neurosci, Unit Rare Neurol Dis, Milan, Italy

[15] Pitie Salpetriere Univ Hosp, APHP Paris, Neuromuscular Dis Reference Ctr, Paris, France

[16] Hop La Pitie Salpetriere, Assoc Inst Myol, Paris, France

[17] AFM Telethon, Assoc Francaise Myopathies, Evry, France

[18] European Patient Org Dysimmune & Inflammatory Neur, Paris, France

[19] Univ Hosp Motol, Neuromuscular Ctr, Prague, Czech Republic

[20] Maastricht Univ Med Ctr, Dept Neurol, Maastricht, Netherlands

[21] Maastricht Univ, Sch Mental Hlth & Neurosci, MHeNS, Maastricht, Netherlands

[22] Amsterdam Univ Med Ctr, Locat Acad Med Ctr, Dept Neurol, Amsterdam, Netherlands

[23] Univ Hosp Leuven, Dept Neurol, Louvain, Belgium

[24] Katholieke Univ Leuven, Lab Muscle Dis & Neuropathies, Dept Neurosci, Louvain, Belgium

[25] Leuven Brain Inst LBI, Louvain, Belgium

[26] Hosp Univ Virgen del Rocio IBiS, Avda Manuel Siurot S-N, Seville 41013, Andalucia, Spain

[27] Univ Messina, Dept Clin & Expt Med, AOU G Martino Messina, Messina, Italy

[28] IRCCS Ist Auxol Italiano, Dept Neurol, Milan, Italy

[29] IRCCS Ist Auxol Italiano, Lab Neurosci, Milan, Italy

[30] ALS Liga Belgium, Louvain, Belgium

[31] Hop La Colombiere, CHRU Montpellier, Direct Rech & Innovat, Montpellier, France

[32] Univ Politecn Madrid UPM, Dept Biotecnol Biol Vegetal, Escuela Tecn Super Ingn Agron Alimentaria & Biosis, Ctr Biotecnol & Genom Plantas UPM INIA,Inst Nacl I, Madrid 28223, ES, Spain

[33] Univ Hosp Pitie Salpetriere APHP, Neuromuscular Pathol Funct Unit, Inst Myol, Paris, France

[34] Univ Hosp Pitie Salpetriere APHP, Inst Myol, Neuropathol Serv, Paris, France

来源：

ORPHANET JOURNAL OF RARE DISEASES | 2024年 / 19卷 / 01期

关键词：

Registry; Registry Hub; Neuromuscular Diseases; Rare Diseases; FAIR data;

D O I：

10.1186/s13023-024-03059-3

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

BackgroundThe EURO-NMD Registry collects data from all neuromuscular patients seen at EURO-NMD's expert centres. In-kind contributions from three patient organisations have ensured that the registry is patient-centred, meaningful, and impactful. The consenting process covers other uses, such as research, cohort finding and trial readiness.ResultsThe registry has three-layered datasets, with European Commission-mandated data elements (EU-CDEs), a set of cross-neuromuscular data elements (NMD-CDEs) and a dataset of disease-specific data elements that function modularly (DS-DEs). The registry captures clinical, neuromuscular imaging, neuromuscular histopathology, biological and genetic data and patient-reported outcomes in a computer-interpretable format using selected ontologies and classifications. The EURO-NMD registry is connected to the EURO-NMD Registry Hub through an interoperability layer. The Hub provides an entry point to other neuromuscular registries that follow the FAIR data stewardship principles and enable GDPR-compliant information exchange. Four national or disease-specific patient registries are interoperable with the EURO-NMD Registry, allowing for federated analysis across these different resources.ConclusionsCollectively, the Registry Hub brings together data that are currently siloed and fragmented to improve healthcare and advance research for neuromuscular diseases.

引用

页数：15

共 2 条

[1] EURO-NMD registry: federated FAIR infrastructure, innovative technologies and concepts of a patient-centred registry for rare neuromuscular disorders
Antonio Atalaia
Dagmar Wandrei
Nawel Lalout
Rachel Thompson
Adrian Tassoni
Peter A. C. ’t Hoen
Dimitrios Athanasiou
Suzie-Ann Baker
Paraskevi Sakellariou
Georgios Paliouras
Carla D’Angelo
Rita Horvath
Michelangelo Mancuso
Nadine van der Beek
Cornelia Kornblum
Janbernd Kirschner
Davide Pareyson
Guillaume Bassez
Laura Blacas
Maxime Jacoupy
Catherine Eng
François Lamy
Jean-Philippe Plançon
Jana Haberlova
Esther Brusse
Janneke G. J. Hoeijmakers
Marianne de Visser
Kristl G. Claeys
Carmen Paradas
Antonio Toscano
Vincenzo Silani
Melinda Gyenge
Evy Reviers
Dalil Hamroun
Elisabeth Vroom
Mark D. Wilkinson
Hanns Lochmuller
Teresinha Evangelista
[J]. Orphanet Journal of Rare Diseases, 19
[2] The EURO-NMD registry project: how to establish the datasets for the first European registry for all neuromuscular diseases
D'Angelo, C.
Atalaia, A.
Jaeger, D.
van Lin, N.
Hoen, P. ' t
Evangelista, T.
Tassoni, A.
Lochmueller, H.
[J]. NEUROMUSCULAR DISORDERS, 2021, 31 : S155 - S155

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