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

• Published in: Head & face medicine Vol. 19; no. 1; p. 20
• Main Authors: Oechsle, Anna-Lisa, Wiechers, Cornelia, Abadie, Veronique, Abel, Francois, Breugem, Corstiaan, Poets, Christian F
• Format: Journal Article
• Language: English
• Published: England BioMed Central Ltd 20.05.2023; BioMed Central; BMC
• Subjects: Airway management; Birth defects; Care and treatment; Child; Cooperation; Epidemiology; Genetic disorders; Hospitals; Humans; Multicenter Studies as Topic; Observational Studies as Topic; Ostomy; Outcome; Participation; Patient outcomes; Patients; Pierre Robin Syndrome - diagnosis; Pierre Robin Syndrome - epidemiology; Pierre Robin Syndrome - therapy; Prospective Studies; Quality of Life; Rare disease; Rare diseases; Registries; Registry; Robin sequence; Treatment Outcome; Netherlands; Database; Robin sequence; Registry; Outcome; Rare disease
• ISSN: 1746-160X; 1746-160X
• DOI: 10.1186/s13005-023-00364-3

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. 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. 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. DRKS00025365.