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.
The gene therapy being developed is thought to be compatible on other CLCN6 mutation variants.
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.
Cure CLCN6 has submitted known variants to the Jackson Laboratory 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 uncertainties and risks, as it is still in its infancy.
Cure CLCN6 has submitted known variants to the Jackson Laboratory for an analysis on which variants may be good candidates for gene editing.
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
- 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 as the variants reported by other families are Loss of Function.
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.