About Cure CLCN6

Our Mission

Cure CLCN6 Inc., is dedicated to raising awareness of mutations on the CLCN6 gene, providing support and advocacy to impacted families, and funding the research and development of treatments and ultimately a cure for this devastating disease.

Our Current Work

Mutations on the CLCN6 gene are being studied in a mouse model, conducted by the Jackson Laboratory. This project is being funded by through a grant with the National Institute of Health.
An electro-physio analysis has been conducted by the Max Delbruck Center for Molecular Medicine in Berlin, Germany
A gene therapy is being developed at the University of Massachusetts Worcester, Chan School of Medicine, Horae Gene Therapy Center
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.