CLCN4-related neurodevelopmental disorder (CLCN4-NDD) is an ultra-rare X-linked genetic condition caused by mutations in the CLCN4 gene, which encodes the ClC-4 chloride/proton exchanger protein. This disorder primarily affects the brain, leading to a spectrum of symptoms including intellectual disability, epilepsy, behavioural challenges such as autism spectrum disorder and mood disorders, and movement difficulties. The severity and specific manifestations can vary widely among individuals, even within the same family.
CLCN4-related neurodevelopmental disorder (CLCN4-NDD) is an ultra-rare X-linked genetic condition caused by mutations in the CLCN4 gene, which encodes the ClC-4 chloride/proton exchanger protein. This disorder primarily affects the brain, leading to a spectrum of symptoms including intellectual disability, epilepsy, behavioural challenges such as autism spectrum disorder and mood disorders, and movement difficulties. The severity and specific manifestations can vary widely among individuals, even within the same family.
CLCN4-related neurodevelopmental disorder (CLCN4-NDD) is an ultra-rare X-linked genetic condition caused by mutations in the CLCN4 gene, which encodes the ClC-4 chloride/proton exchanger protein. This disorder primarily affects the brain, leading to a spectrum of symptoms including intellectual disability, epilepsy, behavioural challenges such as autism spectrum disorder and mood disorders, and movement difficulties. The severity and specific manifestations can vary widely among individuals, even within the same family.
In May 2025, the Cure CLCN4 Scientific Conference convened in London, uniting researchers, clinicians, families, and advocates to advance understanding and treatment of CLCN4-related neurodevelopmental disorders. This annual gathering, now in its fourth year, was initiated by Peter Trill and Dr. Gina Tan, parents of Daphne, who was diagnosed with a rare mutation in the CLCN4 gene. Confronted with limited knowledge and no existing treatments, Peter and Gina established Cure CLCN4 to encourage research, raise awareness, and build a supportive community for affected families.
Representing the Manchester Rare Conditions Centre (MRCC), Dr. Kamal Masarweh, our Lead Information and Data Manager, delivered a presentation highlighting MRCC’s integrated approach to rare disease care. Kamal detailed how MRCC combines specialist clinical services, research, advocacy, and education to improve outcomes for individuals with rare conditions. Kamal emphasized the Centre’s Clinical & Diagnostics theme, which connects expert services with translational research and policy development, offering a model for coordinated care and impact.
The conference underscored the importance of collaboration in rare disease research. By bringing together families, scientists, and clinicians, events like these bring hope and drive progress toward better understanding and treatments. As MRCC continues to support integrated care and research, partnerships with organizations like Cure CLCN4 exemplify the collective effort needed to improve lives affected by rare conditions.
For more information on Cure CLCN4 and their ongoing initiatives, visit cureclcn4.org.