OBJECTIVES: Opsoclonus Myoclonus Syndrome (OMS) is a rare, orphan disease primarily impacting children between the ages of 1-5 years. Lack of disease awareness by healthcare stake-holders results in diagnosis and treatment inefficiencies. In 2017, The OMSLife Foundation and the National Organization for Rare Disorders with support from the US Food and Drug Administration launched a patient reported registry to collect patient- and caregiver-provided information to help with global OMS awareness.

METHODS: As of September 2018, 275 patients or caregivers have registered and 196 have contributed data to the OMS registry; 74 patients filled out all available surveys. Data collected and analyzed to date included patient demographics, diagnosis, symptoms, disease severity, and treatments.

RESULTS: Current registry patients reside in 9 countries (US, UK, CH, NO, IE, FR, CA, AT, and AU) with majority US (86%, 145/169), have a median age at diagnosis of 20 months, were 53% (90/170) female, and 74% (146/196) white. Diagnosis of OMS was predominantly by neurologists (83%, 124/150) and within 3 months following onset of symptoms (69%, 98/142). Most OMS patients experienced multiple symptoms at disease onset with ataxia being the most common (87%, 131/150), followed by myoclonus (61%, 92/150), and opsoclonus (59%, 89/150). Severity of disease was mild for 7% (11/149), moderate for 34% (50/149), and severe for 59% (88/149) of patients. In addition to medications such as chemotherapy/immunotherapy, immunoglobulin, and ACTH/steroids, care for patients include behavioral, occupational, physical, and speech therapies.

CONCLUSIONS: The OMS Registry is a dynamic data collection that provides insight into the natural history of OMS, the challenges in diagnosis and disease awareness, the patient experience, and real-world efficacy of both pharmaceutical and non-pharmaceutical therapies. Continued collection and analyses of patient data will broaden the disease awareness, optimize treatment outcomes, and facilitate the development of further research into OMS.