Late Breaking Abstract - Obstructive sleep apnoea in Bardet-Biedl syndrome

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Introduction: Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder with diverse features, including early-onset obesity. Obstructive sleep apnoea (OSA) affects up to 60% of obese children and has significant developmental and cardiovascular consequences. Timely screening and treatment are essential. With Setmelanotide now licensed (2025) for obesity in BBS (age >2, BMI z-score >+2), potential benefits for coexisting OSA are of interest. However, OSA prevalence in BBS remains unclear. Objective: To assess the prevalence and management of OSA in children with BBS. Methods: A 15-year retrospective review of paediatric records from a nationally commissioned BBS service. Results: Of 159 patients, 56 (35%) reported sleep symptoms. Thirty-two underwent sleep studies (median age 8 years); 20 (63%) were diagnosed with OSA, mostly severe (13/20, 65%). OSA was present in 80% with BMI z-score >+2. Compared to the wider BBS cohort, those with OSA more often had learning delay, BBS facies, micrognathia, and BBS10 genotype. Seven had adenotonsillectomy, with symptom resolution in five. Four required non-invasive ventilation (NIV). erj;66/suppl_69/PA1644/F1 F1 F1 Conclusion: OSA is common in children with BBS, underscoring the need for routine sleep assessment and diagnostics. Those with severe obesity or specific genotypes may be at higher risk. Setmelanotide offers a potential alternative to surgery or NIV, with promise in reducing long-term disease burden.

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