Therapeutic Approaches of Interest
Gene Therapy
Drug Repurposing
Gene Therapy
This therapy will:
- Silence the toxic protein being produced by the faulty gene
- Provide a functioning copy of the CLCN6 gene to the cells.
This gene therapy is being developed at at The University of Massachusetts Worcester, Chan Medical School, Horae Gene Therapy Center.
This approach will "silence" both the mutant and wild type alleles, and replace them with a healthy copy.
Gene Editing
Drug Repurposing
Gene Therapy
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 uncertainties and risks, as it is still in its infancy.
At this time, gene editing cells in the brain is not an approach we a
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 uncertainties and risks, as it is still in its infancy.
At this time, gene editing cells in the brain is not an approach we are pursuing, but we monitor progress and advancements in this approach.
Drug Repurposing
Drug Repurposing
Anti-Sense Oligonucleotide Therapy
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. Bafilomycin is not used in humans, but the effects of the drug on the CLCN6 gene, may provide guidance on other potential drugs.
- Lipid metabolism and glyco-metabolism drugs.
Anti-Sense Oligonucleotide Therapy
Anti-Sense Oligonucleotide Therapy
Anti-Sense Oligonucleotide Therapy
Anti-Sense Oligonucleotides are an effective treatment option for Gain of Function mutations, as the ASO's "knock out" the mutant protein.
ASO's are not effective for Loss of Function mutations.
Cure CLCN6 is not currently pursuing ASO treatments for gain of function mutations due to funding and regulatory constraints, but we are monitoring potential opportunities as they arise.
Enzyme Replacement Therapy
Anti-Sense Oligonucleotide Therapy
Enzyme Replacement Therapy
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.
At this time, ERT is not a viable approach as current technology does not allow for enzymes to be delivered to cellular channels.