Our Current Research Targets
Gene therapy is the use of genetic material to treat or prevent disease. The genetic material that is delivered, has instructions to change how a protein is produced by the cell. A WWOX gene therapy is currently under development at Mahzi Therapeutics. In this therapy a functional copy of the WWOX gene will be carried to targeted cells by a special carrier called AAV9. As of early 2024, this project is currently in the final stages of safety and efficacy testing prior to application to initiate a first in human clinical trial.
Non-Sense Read Through
A nonsense mutation is a genetic alteration that introduces a premature termination codon (PTC) into the DNA sequence. This halts protein synthesis prematurely, often leading to a nonfunctional or truncated protein. A large percentage of WOREE patients have a non-sense mutation on one allele. There are known drugs that can induce PTC readthrough by shifting the balance at the ribosome, causing it to misread the stop codon as a sense codon. This process, forces the translational machinery to introduce an amino acid at the PTC position. It is the goal of the WWOX Foundation to identify a safe and effective drug that can induce PTC read through and allow some small amount of WWOX protein to be expressed in patients with these non-sense mutations.
Drug Repurposing Screenings
The goal of drug repurposing is to identify compounds with established safety profiles that may prove efficacious for WOREE and SCAR12. Drugs will first be screened against cell models containing WWOX deficiency to determine if cellular function can be improved. Any hits during this screening process will then be evaluated with our medical advisory board for viability of translation and clinical trial.
If you are a parent or caregiver of a child with WOREE or SCAR12, please ensure you register with us so that we can notify when new trials and therapeutics come on line.
Past Research Projects and Grants
In 2020 and 2021 we provided multiple grants totaling A$259,000 (∼$200,000) in funding to Dr. Rami Aqelian's lab at Hebrew University to help complete his research of a WWOX gene therapy. His research found that a mouse model with no functional WWOX gene could be rescued by a novel AAV9 WWOX gene therapy. The full findings of his paper can be found here. This gene therapy is now being developed and translated for use in humans by Mahzi Therapeutics.
Grants for researchers
Do you have a novel idea for a treatment approach for WWOX deficiency? Please reach out to us at firstname.lastname@example.org