Research Explained: Patient organization perspective: a research roadmap for Okur-Chung Neurodevelopmental Syndrome

Authors: Gabrielle V. Rushing and Jennifer Sills

Publication Date: July 25, 2024

Research Explained By: Gabrielle Rushing, PhD, CSNK2A1 Foundation Science Program Director

Link to article: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11273705/

Research Explained Summary:

Patient organization perspective: a research roadmap for Okur-Chung Neurodevelopmental Syndrome Plain Language Summary

• Okur-Chung Neurodevelopmental Syndrome (OCNDS) is an ultra-rare disorder caused by variants in the CSNK2A1 gene.
• CSNK2A1 creates a subunit of CK2, a critical protein in brain development among other biological processes.
• There are no approved treatments for OCNDS, and current suggested treatments focus on symptom management.
• Individuals with OCNDS exhibit many symptoms at varying severity levels, including developmental delay/intellectual disabilities, autism, disrupted sleep, speech delays/inability to speak, short stature, and in approximately 25% of cases, epilepsy. We think that seizure prevalence may be underreported due to lack of extended EEG recordings for OCNDS patients and that seizures may preferentially occur at night as has been observed in other autism spectrum disorders.
• The CSNK2A1 Foundation was established in 2018 and aims to find a cure for OCNDS and provide support to affected individuals. The CSNK2A1 Foundation’s research tools and efforts have provided valuable insights into the biology of OCNDS and the natural history of the disorder. However, additional efforts are needed to fully understand how OCNDS affects the body and investigate potential treatment approaches.
• To accelerate OCNDS research, the foundation has developed a research roadmap that is presented in this perspective article. We describe OCNDS and the CSNK2A1 gene, highlight gaps in OCNDS research, discuss the research roadmap, and offer the founder’s perspective on our growth and future opportunities.