Therapeutic Approaches of Interest

This therapy will:

This gene therapy is being developed at at The University of Massachusetts Worcester, Chan Medical School, Horae Gene Therapy Center.

The gene therapy being developed will be compatible on other CLCN6 mutations.

Drug repurposing is the process of using FDA approved drugs to treat previously unknown or untreated medical conditions.

Drug repurposing is faster and less expensive than developing new drugs, and they also have a known safety profile.

Drugs of interest:

Bafilomycin - Is known to have an impact on the CLCN6 gene, but needs to be studied

Drug repurposing is the process of using FDA approved drugs to treat previously unknown or untreated medical conditions.

Drug repurposing is faster and less expensive than developing new drugs, and they also have a known safety profile.

Drugs of interest:

Bafilomycin - Is known to have an impact on the CLCN6 gene, but needs to be studied in more detail
Lipid metabolism and glyco-metabolism drugs.

CLCN6 mutations are Lysosomal Storage Disorders.

The inability of the cells to properly dispose of cellular waste leads to neurodegeneration.

Enzyme replacement therapy delivers enzymes to the mutated cells, to assist in metabolizing cellular waste.

Advances in delivering enzymes across the blood brain barrier are being made, and offer hope for

Gene Editing is when the mutation is corrected at the base level, meaning that the incorrect protein is swapped out for the correct one.

Gene editing is the eventual "cure" for genetic mutations, but comes with many unknowns and uncertainties, as it is still in its infancy.

While not available at this time, Cure CLCN6 actively monitors research opportunities.