Accelerating Research. Advancing Hope.
The WWOX Foundation is committed to supporting and accelerating research that can improve care, lead to effective treatments and ultimately find a cure for WWOX-related disorders.
Our role extends beyond funding individual studies. We connect researchers, clinicians, biotechnology partners and families, help identify promising scientific opportunities and support the steps needed to move discoveries from the laboratory towards future clinical trials.
Our research priorities include gene therapy, drug repurposing, nonsense-mutation read-through and biomarker discovery. Patient registry and medical-record studies also provide researchers with vital information about how WWOX-related conditions develop and change over time.
Because these conditions are extremely rare, progress depends on global collaboration. Every research partnership, family contribution and donation helps build a clearer and faster path towards future treatments.
Our Current Research Targets
Important WWOX studies are already underway. By participating now, you can help ensure that your family’s experience is represented as researchers work to build a clearer and more complete understanding of WWOX-related disorders.
AAV9-WWOX Gene Therapy
Delivering a functional copy of the WWOX gene to target cells so they can produce the protein they need.
Nonsense Read-Through
Seeking compounds that may help cells read through premature stop signals and produce more WWOX protein.
RNA-Guided Drug Repurposing
Using RNA profiles from people with WOREE syndrome to guide the search for potential treatments.
AAV9-WWOX Gene Therapy
Using gene therapy to restore WWOX
Gene therapy uses genetic material to help our cells do what they should. In WWOX deficiency, cells don't make enough WWOX protein because the WWOX gene isn't working correctly.
In this approach, a functional copy of the WWOX gene is packaged inside an AAV9 vector (a modified viral delivery vehicle) and delivered to target cells. The aim is to help these cells produce the WWOX protein they need.
A WWOX gene therapy is currently under development at Mahzi Therapeutics.
Where are we now?
In June 2026, Hebrew University reported that a child with WOREE syndrome had received experimental WWOX gene therapy under compassionate use. This individual treatment was separate from a clinical trial. The announcement highlighted the need for longer follow-up to evaluate safety and effectiveness.
A research program designed to deliver a functional copy of the WWOX gene and address the underlying cause of disease.
Nonsense Read-Through
How does it work?
Some WWOX variants, called nonsense variants, create an early stop signal in the instructions used to make WWOX protein. This can lead to shortened protein or little or no protein being produced.
Read-through research tests whether compounds can help cells move past this early stop signal. Researchers assess how much full-length WWOX protein is produced and whether it functions as intended.
This approach is relevant to particular nonsense variants; it is not expected to address every type of WWOX variant.
Where are we now?
The study has been testing a number of compounds for their potential to support nonsense read-through.
A person with WOREE syndrome has also taken part in an individual (N-of-1) trial of Amlexanox. Their family reports encouraging improvements, but the results have not yet been formally published. This experience does not establish safety or effectiveness for other people with WOREE syndrome, or confirm how the treatment produced the reported changes.
Investigating compounds that may help cells read through premature stop signals and produce more full-length WWOX protein.
RNA-Guided Drug Repurposing
What is Drug Repurposing?
Drug repurposing explores whether existing medicines could have a new use in treating another condition.
The current study with Unravel Biosciences uses samples from a group of people with WOREE syndrome to build an RNA map, a snapshot of gene activity. Researchers will compare these profiles with control samples to identify differences and select compounds for testing.
The aim is to find compounds that shift the RNA patterns towards those seen in the controls. A change in these patterns could help identify promising candidates, but would not by itself establish a benefit for patients.
Where are we now?
RNA profiling is underway. This work will guide the selection and testing of candidate compounds, followed by further evaluation of any promising findings.
Using RNA profiles to identify and test potential treatments for WOREE syndrome.
Research Progress & Grants
Family-led fundraising has enabled targeted research programs across gene therapy and drug discovery.
2020 - 2021
AAV9-WWOX Research
Grants totaling A$259,000 were awarded to Dr. Rami Aqeilan's laboratory at Hebrew University to support preclinical WWOX gene therapy research.
The lab showed a mouse model with no functional WWOX gene could be rescued by a novel AAV9 WWOX gene therapy.
This therapy is now being translated for humans by Mahzi Therapeutics.
2024
Read-through drug study
A$40,000 awarded to the Children's Medical Research Institute in Sydney.
Funding supports a drug repurposing study led by Dr. Wendy Gold and Dr. Lisa Riley focused on nonsense variant read-through.
How Families Can Help Advance Research
Families are essential partners in building knowledge, connecting the community and sustaining research.
Grants for Researchers
Researchers with novel treatment ideas for WWOX deficiency are invited to contact the foundation.
