About Cure CLCN6

Cure CLCN6 was formed in February 2024, in response to our son Paxton being diagnosed with a neurodegenerative mutation on the CLCN6 gene. 

Cure CLCN6 is dedicated to raising awareness of mutations on the CLCN6 gene, providing support and advocacy to affected children and their families, and funding the research and development of therapeutics, and ultimately a cure.

1. In June of 2024, Cure CLCN6 secured a mouse model through the Jackson Laboratory. This will allow researchers to better understand CLCN6 mutations, and allow for the safety and efficacy testing of the gene therapy. This project is being funded by a grant from the National Institute of Health. 
2. In June 2024, Cure CLCN6 entered an agreement with the University of Massachusetts  Chan School of Medicine, to develop a novel gene therapy.
3. CLCN6 mutations, and specifically Paxton's mutation, are being studied at St. Jude's Research Hospital, to better contribute to precision therapeutics. Research is being conducted in the Heather C. Mefford Lab.
4. An electro-physio analysis has been conducted by the Max Delbruck Center for Molecular Medicine in Berlin, Germany. The findings indicated that the p.F254S variant (Paxton's variant), causes severe epilepsy and is likely both a gain of function and a loss of function mutation. 
5. Cure CLCN6 has been in contact with three other families, ranging from North America to Europe, with children with CLCN6 mutations. There are almost 1,000 additional global cases reported to ClinVar.