Real-world evidence in achondroplasia: considerations for a standardized data set

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Real-world evidence in achondroplasia : considerations for a standardized data set

Alanay, Yasemin (författare): Pediatric Genetics, Department of Pediatrics, School of Medicine, Acibadem Mehmet Ali Aydinlar University, Kayisdagi Cad. No:32, Atasehir, 34684, Istanbul, Turkey

Mohnike, Klaus (författare): Department of Pediatrics, Otto-von-Guericke-University, Magdeburg, Germany

Nilsson, Ola, 1970- (författare): Karolinska Institutet,Örebro universitet,Institutionen för medicinska vetenskaper,Division of Pediatric Endocrinology and Center for Molecular Medicine, Department of Women's and Children's Health, Karolinska Institute and University Hospital, Stockholm, Sweden; Department of Medical Sciences, Örebro University, Örebro, Sweden; Department of Pediatrics, Örebro University Hospital, Örebro, Sweden

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Alves, Inês (författare): ANDO Portugal, Évora, Portugal

AlSayed, Moeenaldeen (författare): Department of Medical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia

Appelman-Dijkstra, Natasha M. (författare): Department of Internal Medicine, Division Endocrinology and Center for Bone Quality, Leiden University Medical Center, Leiden, The Netherlands

Baujat, Genevieve (författare): Hôpital Necker Enfants Malades AP-HP, Paris, France

Ben-Omran, Tawfeg (författare): Genetic and Genomic Medicine Division, Sidra Medicine and Hamad Medical Corporation, Doha, Qatar

Breyer, Sandra (författare): Department of Paediatrics, UKE Hamburg-Eppendorf, Hamburg, Germany

Cormier-Daire, Valerie (författare): Hôpital Necker Enfants Malades AP-HP, Paris, France; Reference Center for Skeletal Dysplasia, Imagine Institute, Paris Cité University, Paris, France

Gregersen, Pernille Axél (författare): Department of Clinical Genetics and Centre for Rare Diseases, Aarhus University Hospital, Aarhus, Denmark

Guillén-Navarro, Encarna (författare): Medical Genetics Section, Department of Paediatrics, Virgen de la Arrixaca University Clinical Hospital, IMIB-Arrixaca, Faculty of Medicine, University of Murcia (UMU), Murcia, Spain

Högler, Wolfgang (författare): Department of Paediatrics and Adolescent Medicine, Johannes Kepler University Linz, Linz, Austria

Maghnie, Mohamad (författare): Department of Paediatrics, IRCCS Istituto Giannna Gaslini, Genoa, Italy; Department of Neuroscience, Rehabilitation, Ophthalmology Genetics, Maternal and Child-Health, University of Genova, Genoa, Italy

Mukherjee, Swati (författare): BioMarin (UK) Limited, London, UK

Cohen, Shelda (författare): BioMarin (UK) Limited, London, UK

Pimenta, Jeanne (författare): BioMarin (UK) Limited, London, UK

Selicorni, Angelo (författare): Pediatric Unit ASST Lariana, Mariani Center for Fragile Child, Como, Italy

Semler, J. Oliver (författare): Faculty of Medicine, University of Cologne, Cologne, Germany; Department of Pediatrics, University Hospital Cologne, Cologne, Germany

Sigaudy, Sabine (författare): Département de Génétique Médicale, Hôpital Timone Enfant, Marseille, France

Popkov, Dmitry (författare): National Ilizarov Research Center for Traumatology and Orthopaedics, Kurgan, Russia

Sabir, Ian (författare): BioMarin (UK) Limited, London, UK

Noval, Susana (författare): Fundación ALPE Acondroplasia, Asturias, Spain

Sessa, Marco (författare): Associazione per I'Informazione e lo Studio dell'Acondroplasia (AISAC), Milan, Italy

Irving, Melita (författare): Guy's and St. Thomas' NHS Foundation Trust, Evelina Children's Hospital, London, UK

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Pediatric Genetics, Department of Pediatrics, School of Medicine, Acibadem Mehmet Ali Aydinlar University, Kayisdagi Cad No:32, Atasehir, 34684, Istanbul, Turkey Department of Pediatrics, Otto-von-Guericke-University, Magdeburg, Germany (creator_code:org_t)

BioMed Central (BMC), 2023
2023
Engelska.
Ingår i: Orphanet Journal of Rare Diseases. - : BioMed Central (BMC). - 1750-1172. ; 18:1

Relaterad länk:: https://doi.org/10.1...; visa fler...; https://urn.kb.se/re...; https://doi.org/10.1...; http://kipublication...; visa färre...

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BACKGROUND: Collection of real-world evidence (RWE) is important in achondroplasia. Development of a prospective, shared, international resource that follows the principles of findability, accessibility, interoperability, and reuse of digital assets, and that captures long-term, high-quality data, would improve understanding of the natural history of achondroplasia, quality of life, and related outcomes.METHODS: The Europe, Middle East, and Africa (EMEA) Achondroplasia Steering Committee comprises a multidisciplinary team of 17 clinical experts and 3 advocacy organization representatives. The committee undertook an exercise to identify essential data elements for a standardized prospective registry to study the natural history of achondroplasia and related outcomes.RESULTS: A range of RWE on achondroplasia is being collected at EMEA centres. Whereas commonalities exist, the data elements, methods used to collect and store them, and frequency of collection vary. The topics considered most important for collection were auxological measures, sleep studies, quality of life, and neurological manifestations. Data considered essential for a prospective registry were grouped into six categories: demographics; diagnosis and patient measurements; medical issues; investigations and surgical events; medications; and outcomes possibly associated with achondroplasia treatments.CONCLUSIONS: Long-term, high-quality data are needed for this rare, multifaceted condition. Establishing registries that collect predefined data elements across age spans will provide contemporaneous prospective and longitudinal information and will be useful to improve clinical decision-making and management. It should be feasible to collect a minimum dataset with the flexibility to include country-specific criteria and pool data across countries to examine clinical outcomes associated with achondroplasia and different therapeutic approaches.

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Real-world evidence in achondroplasia : considerations for a standardized data set

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