Study protocol for a multicenter, multinational, observational registry of epidemiology, treatment and outcome of patients with Robin sequence

BACKGROUND: Robin sequence (RS) is a congenital condition characterized by micrognathia, glossoptosis and upper airway obstruction. Diagnosis and treatment are characterized by heterogeneity, resulting in a lack of uniformly collected data. METHODS: We have set up a prospective, observational, multi...

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Autores principales: Oechsle, Anna-Lisa, Wiechers, Cornelia, Abadie, Veronique, Abel, Francois, Breugem, Corstiaan, Poets, Christian F.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10199645/
https://www.ncbi.nlm.nih.gov/pubmed/37210548
http://dx.doi.org/10.1186/s13005-023-00364-3
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author Oechsle, Anna-Lisa
Wiechers, Cornelia
Abadie, Veronique
Abel, Francois
Breugem, Corstiaan
Poets, Christian F.
author_facet Oechsle, Anna-Lisa
Wiechers, Cornelia
Abadie, Veronique
Abel, Francois
Breugem, Corstiaan
Poets, Christian F.
author_sort Oechsle, Anna-Lisa
collection PubMed
description BACKGROUND: Robin sequence (RS) is a congenital condition characterized by micrognathia, glossoptosis and upper airway obstruction. Diagnosis and treatment are characterized by heterogeneity, resulting in a lack of uniformly collected data. METHODS: We have set up a prospective, observational, multicenter, multinational registry aimed at obtaining routine clinical data from RS patients receiving different treatment approaches and enabling an assessment of outcomes obtained through different therapeutic approaches. Patient enrolment has started in January 2022. Disease characteristics, adverse events and complications depending on the different diagnostic and treatment approaches and their effects on neurocognition, growth, speech development and hearing outcome are evaluated using routine clinical data. In addition to characterizing the patient population and comparing outcomes achieved with different treatment approaches, the registry will evolve to focus on endpoints such as quality of life and long-term developmental status. DISCUSSION: This registry will provide data on different treatment approaches collected during routine care with diverse framework conditions and will allow assessing diagnostic and therapeutic outcomes of children with RS. These data, urgently demanded by the scientific community, may contribute to refining and personalizing existing therapeutic approaches and increase knowledge about the long-term outcome of children born with this rare condition. TRIAL REGISTRATION: DRKS00025365. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s13005-023-00364-3.
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spelling pubmed-101996452023-05-21 Study protocol for a multicenter, multinational, observational registry of epidemiology, treatment and outcome of patients with Robin sequence Oechsle, Anna-Lisa Wiechers, Cornelia Abadie, Veronique Abel, Francois Breugem, Corstiaan Poets, Christian F. Head Face Med Research BACKGROUND: Robin sequence (RS) is a congenital condition characterized by micrognathia, glossoptosis and upper airway obstruction. Diagnosis and treatment are characterized by heterogeneity, resulting in a lack of uniformly collected data. METHODS: We have set up a prospective, observational, multicenter, multinational registry aimed at obtaining routine clinical data from RS patients receiving different treatment approaches and enabling an assessment of outcomes obtained through different therapeutic approaches. Patient enrolment has started in January 2022. Disease characteristics, adverse events and complications depending on the different diagnostic and treatment approaches and their effects on neurocognition, growth, speech development and hearing outcome are evaluated using routine clinical data. In addition to characterizing the patient population and comparing outcomes achieved with different treatment approaches, the registry will evolve to focus on endpoints such as quality of life and long-term developmental status. DISCUSSION: This registry will provide data on different treatment approaches collected during routine care with diverse framework conditions and will allow assessing diagnostic and therapeutic outcomes of children with RS. These data, urgently demanded by the scientific community, may contribute to refining and personalizing existing therapeutic approaches and increase knowledge about the long-term outcome of children born with this rare condition. TRIAL REGISTRATION: DRKS00025365. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s13005-023-00364-3. BioMed Central 2023-05-20 /pmc/articles/PMC10199645/ /pubmed/37210548 http://dx.doi.org/10.1186/s13005-023-00364-3 Text en © The Author(s) 2023 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://creativecommons.org/publicdomain/zero/1.0/) ) applies to the data made available in this article, unless otherwise stated in a credit line to the data.
spellingShingle Research
Oechsle, Anna-Lisa
Wiechers, Cornelia
Abadie, Veronique
Abel, Francois
Breugem, Corstiaan
Poets, Christian F.
Study protocol for a multicenter, multinational, observational registry of epidemiology, treatment and outcome of patients with Robin sequence
title Study protocol for a multicenter, multinational, observational registry of epidemiology, treatment and outcome of patients with Robin sequence
title_full Study protocol for a multicenter, multinational, observational registry of epidemiology, treatment and outcome of patients with Robin sequence
title_fullStr Study protocol for a multicenter, multinational, observational registry of epidemiology, treatment and outcome of patients with Robin sequence
title_full_unstemmed Study protocol for a multicenter, multinational, observational registry of epidemiology, treatment and outcome of patients with Robin sequence
title_short Study protocol for a multicenter, multinational, observational registry of epidemiology, treatment and outcome of patients with Robin sequence
title_sort study protocol for a multicenter, multinational, observational registry of epidemiology, treatment and outcome of patients with robin sequence
topic Research
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10199645/
https://www.ncbi.nlm.nih.gov/pubmed/37210548
http://dx.doi.org/10.1186/s13005-023-00364-3
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