Epilepsy and overgrowth–intellectual disability syndromes: a patient organization perspective on collaborating to accelerate pathways to treatment

Overgrowth–intellectual disability (OGID) syndromes are a collection of rare genetic disorders with overlapping clinical profiles. In addition to the cardinal features of general overgrowth (height and/or head circumference at least two standard deviations above the mean) and some degree of intellectual disability, the OGID syndromes are often associated with neurological anomalies including seizures. In an effort to advance research in directions that will generate meaningful treatments for people with OGID syndromes, a new collaborative partnership called the Overgrowth Syndromes Alliance (OSA) formed in 2023. By taking a phenotype-first approach, OSA aims to unite research and patient communities traditionally siloed by genetic disorder. OSA has galvanized OGID patient organizations around shared interests and developed a research roadmap to identify and address our community’s greatest unmet needs. Here, we describe the literature regarding seizures among those with overgrowth syndromes and present the OSA Research Roadmap. This patient-driven guide outlines the milestones essential to reaching the outcome of effective treatments for OGID syndromes and offers resources for reaching those milestones. Plain language summary Working together to speed up treatments for rare genetic syndromes linked to excessive growth and intellectual disability To address the shared challenges experienced among those affected by overgrowth–intellectual disability (OGID) syndromes, we recently formed the Overgrowth Syndromes Alliance (OSA). The OSA unites patient advocacy organizations that have typically worked independently of one another, in hopes of accelerating our progress toward treatments. Here, we summarize the OGID syndromes represented by the OSA, the prevalence of seizures in these disorders, and efforts by the OSA to tackle the most pressing needs of the overgrowth community. We also present the steps patient organizations can take in pursuit of developing treatments. We hope the work of our alliance can be a template for creating collaborative, patient-led advances in diagnosis, management guidelines, and, eventually, treatment of rare genetic disorders.