Common data elements for arthrogryposis multiplex congenita: An international framework-Reference-Cited by-同舟云学术

Common data elements for arthrogryposis multiplex congenita: An international framework

Published:2024-03-16 Issue:10 Volume:66 Page:1340-1347
ISSN:0012-1622
Container-title:Developmental Medicine & Child Neurology
language:en
Short-container-title:Develop Med Child Neuro

Author:

Nematollahi Shahrzad¹²^ORCID,Dieterich Klaus³^ORCID,Filges Isabel⁴,De Vries Johanna I. P.⁵,Van Bosse Harold⁶,Natera de Benito Daniel⁷⁸,Hall Judith G.⁹,Sawatzky Bonita¹⁰,Bedard Tanya¹¹,Sanchez Victoria Castillo¹²,Navalon‐Martinez Carolina¹³,Pan Tony¹⁴¹⁵,Hilton Coleman¹⁶,Dahan‐Oliel Noémi¹²^ORCID

Affiliation:

1. School of Physical and Occupational Therapy McGill University Montreal Canada

2. Department of Clinical Research Shriners Hospitals for Children Montreal Canada

3. Université Grenoble Alpes, Inserm U1209, Institute of Advanced Biosciences, CHU Grenoble Alpes, Arthrogryposis and Neuromuscular Reference Center Grenoble France

4. Medical Genetics, Institute of Medical Genetics and Pathology and Department of Clinical Research University Hospital Basel and University of Basel Basel Switzerland

5. Obstetrics and Gynecology, Amsterdam Movement Sciences Amsterdam University Medical Center, Vrije Universiteit Medical Center Amsterdam the Netherlands

6. Department of Orthopaedic Surgery Cardinal Glennon Children's Hospital/SSM Health/St. Louis University St. Louis MO USA

7. Neuromuscular Unit Hospital Sant Joan de Déu Barcelona Spain

8. Applied Research in Neuromuscular Diseases, Institut de Recerca Sant Joan de Déu Barcelona Spain

9. Department of Medical Genetics and Pediatrics University of British Columbia and BC Children's Hospital Vancouver British Columbia Canada

10. Department of Orthopaedics University of British Columbia Vancouver British Columbia Canada

11. Alberta Congenital Anomalies Surveillance System, Clinical Genetics Alberta Children's Hospital, Alberta Health Services Calgary Alberta Canada

12. Asociación Artrogriposis Múltiple Congénita España Barcelona Spain

13. Asociación de Pacientes de Artrogriposis Multiple Congénita Barcelona Spain

14. Department of Biomedical Informatics Emory University Atlanta GA USA

15. Institute for Data Engineering and Science Georgia Institute of Technology Atlanta GA USA

16. Shriners Children's, Headquarters Tampa FL USA

Abstract

AbstractAimTo facilitate multisite studies and international clinical research, this study aimed to identify consensus‐based, standardized common data elements (CDEs) for arthrogryposis multiplex congenita (AMC).MethodA mixed‐methods study comprising of several focus group discussions and three rounds of modified Delphi surveys to achieve consensus using two tiered‐rating scales were conducted.ResultsOverall, 45 clinical experts and adults with lived experience (including 12 members of an AMC consortium) participated in this study from 11 countries in North America, Europe, and Australia. The CDEs include 321 data elements and 19 standardized measures across various domains from fetal development to adulthood. Data elements pertaining to AMC phenotypic traits were mapped according to the Human Phenotype Ontology. A universal governance structure, local operating protocols, and sustainability plans were identified as the main facilitators, whereas limited capacity for data sharing and the need for a federated informatics infrastructure were the main barriers.InterpretationCollection of systematic data on AMC using CDEs will allow investigations on etiological pathways, describe epidemiological profile, and establish genotype–phenotype correlations in a standardized manner. The proposed CDEs will facilitate international multidisciplinary collaborations by improving large‐scale studies and opportunities for data sharing, knowledge translation, and dissemination.What this paper adds

The common data elements (CDEs) for arthrogryposis multiplex congenita include 321 data elements from perinatal period to adulthood.

A universal governance structure, partner‐specific operating protocols, and sustainability plans will facilitate multi‐institutional implementation of CDEs.

Inconsistent electronic infrastructure, different terminologies for databases, and feasibility issues are the main barriers for international implementation of CDEs.

Funder

Shriners Hospitals for Children

Publisher

Wiley

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/dmcn.15898

Reference44 articles.

1. NIH/NCATS/GRDR® Common Data Elements: A leading force for standardized data collection

2. Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database

3. The European Union Committee of Experts on Rare Diseases (EUCERD) Core recommendation on rare disease patient registration and data collection.http://www.eucerd.eu/wpcontent/uploads/2013/06/EUCERD_Recommendations_RDRegistryDataCollection_adopted.pdf(accessed 19 April 2023).

4. Creating a global rare disease patient registry linked to a rare diseases biorepository database: Rare Disease-HUB (RD-HUB)