Study protocol for a multicenter, multinational, observational registry of epidemiology, treatment and outcome of patients with Robin sequence
Abstract 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...
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| Format: | Article |
| Language: | English |
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BMC
2023-05-01
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| Series: | Head & Face Medicine |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13005-023-00364-3 |
| _version_ | 1797822605616480256 |
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| author | Anna-Lisa Oechsle Cornelia Wiechers Veronique Abadie Francois Abel Corstiaan Breugem Christian F. Poets |
| author_facet | Anna-Lisa Oechsle Cornelia Wiechers Veronique Abadie Francois Abel Corstiaan Breugem Christian F. Poets |
| author_sort | Anna-Lisa Oechsle |
| collection | DOAJ |
| description | Abstract 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. |
| first_indexed | 2024-03-13T10:11:35Z |
| format | Article |
| id | doaj.art-71858326288c468590fd7c3c0714dd40 |
| institution | Directory Open Access Journal |
| issn | 1746-160X |
| language | English |
| last_indexed | 2024-03-13T10:11:35Z |
| publishDate | 2023-05-01 |
| publisher | BMC |
| record_format | Article |
| series | Head & Face Medicine |
| spelling | doaj.art-71858326288c468590fd7c3c0714dd402023-05-21T11:28:30ZengBMCHead & Face Medicine1746-160X2023-05-011911710.1186/s13005-023-00364-3Study protocol for a multicenter, multinational, observational registry of epidemiology, treatment and outcome of patients with Robin sequenceAnna-Lisa Oechsle0Cornelia Wiechers1Veronique Abadie2Francois Abel3Corstiaan Breugem4Christian F. Poets5Interdisciplinary Center for Cleft Palate & Craniofacial Malformations, Department of Neonatology, Tübingen University HospitalInterdisciplinary Center for Cleft Palate & Craniofacial Malformations, Department of Neonatology, Tübingen University HospitalDepartment of General Pediatrics, Reference Centre for Rare Diseases ’Pierre Robin sequences and congenital sucking-swallowing troubles’, Necker University Hospital, Paris UniversityDepartment of Pediatric Respiratory Medicine, Great Ormond Street HospitalDepartment of Plastic Reconstructive and Hand Surgery, Emma Children’s Hospital - Location AMC, Amsterdam UMC, University of AmsterdamInterdisciplinary Center for Cleft Palate & Craniofacial Malformations, Department of Neonatology, Tübingen University HospitalAbstract 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.https://doi.org/10.1186/s13005-023-00364-3Robin sequenceRegistryDatabaseRare diseaseOutcome |
| spellingShingle | Anna-Lisa Oechsle Cornelia Wiechers Veronique Abadie Francois Abel Corstiaan Breugem Christian F. Poets Study protocol for a multicenter, multinational, observational registry of epidemiology, treatment and outcome of patients with Robin sequence Head & Face Medicine Robin sequence Registry Database Rare disease Outcome |
| 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 | Robin sequence Registry Database Rare disease Outcome |
| url | https://doi.org/10.1186/s13005-023-00364-3 |
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