Boston

ROHHAD syndrome is a rare condition affecting children characterized by rapid onset obesity, central hypoventilation, hypothalamic dysfunction, and autonomic disturbances. Researchers aim to understand the metabolic and genetic changes behind the rapid weight gain and other symptoms in children with ROHHAD syndrome. This observational study focuses on investigating the whole transcriptome profile of hypothalamic neurons derived from patients to explore these underlying mechanisms. The study involves collecting blood samples from children diagnosed with ROHHAD and their unaffected first-degree relatives. These samples will be used to generate patient-specific induced pluripotent stem cell-derived hypothalamic neurons for whole transcriptome profiling. Selected patients may also undergo detailed metabolic testing to better understand the causes of excessive weight gain. Participants will be monitored for changes in the transcriptome profile of hypothalamic cells over a two-year period. Blood samples and clinical data will be collected to analyze the differences between affected children and their relatives. The study will assess transcriptome changes and metabolic features that contribute to ROHHAD syndrome, with no treatment intervention involved. The total duration of participation may vary depending on individual involvement in metabolic phenotyping.