European Natural History Study And Search For Novel Biomarkers In Gnao1 Associated Disorders

GNAO1-associated disorder is an ultra-rare disease with an unknown prevalence encompassing a wide spectrum of neurological disorders such as early-onset movement disorder (MD), epilepsy, developmental delay, and intellectual disability. Approximately 150 patients have been described to date as case reports or small retrospective case studies and the full clinical spectrum and disease course still need to be delineated.

GNAO1-EU convenes a multidisciplinary team from 8 EU countries, made by expert in pediatric movement disorder and epilepsy, basic scientists and PAOs.  It is expected to enroll 90 patients over 3 years

The main aims of this project are i) to perform a prospective natural history study with quantitative assessment in a large cohort of patients, combining a careful phenotyping with longitudinal evaluation of clinical, quality of life, neuroradiological, and genetic data ii) to search for potential biomarkers by analyzing microbiome signature and cytokine profiles and to subsequent validate them in pre-clinical models. Emerging data suggest indeed that neuroinflammation may be a potential disease mechanism in GNAO1 related disorder

Establishing the natural history of the disorder and ascertaining suitable biomarkers, would be utmost important for assessing the efficacy of future potential therapeutics.