Learn more about this rare disease, how it affects our families, and how we're helping to find treatment.
DLG4 Research
In just a few short years, there have been great advancements in research on DLG4, PSD-95, and DLG4 SHINE. Currently, teams of doctors and researchers from around the world are working on unraveling the natural history of DLG4 Synaptopathy, its effects on patients, and development and testing of treatments. This section highlights some of the current and future research initiatives, existing articles, and introduces some of the many researchers involved in the community.
Current DLG4 Research Activities
AAV Gene Therapy Study
UC San Diego and Hebrew University
AAVs, or Adeno-Associated Virus Vectors, are one potentially viable treatment option for DLG4 Synaptopathy. AAVs have been used to successfully treat other neurodegenerative disorders and may be well suited for DLG4 SHINE. We are working on an AAV in conjunction with the Hope for Harvey Foundation at Hebrew University and at UC San Diego. Learn more about Gene Therapy or donate to the DLG4 SHINE Gene Therapy Study.
Natural History Study
University of Copenhagen
Dr. Zeynep Tumer and her team, including Amanda Levy and Dr. Kristian Stromgaard, are studying the natural history of DLG4 Synaptopathy to better understand the expected traits of the disease, protein interactions, how missense variants act, and how to effectively treat the disease.
iPSC Line Development
Simons Searchlight
As part of registry participation, Simons Searchlight is collecting biospecimens from patients and will develop some iPSC lines to be used in research for the disease. iPSC lines are a critical step in building cell models to study this disease and cellular functions.
Planned DLG4 Research Activities
Treatment Viability Studies
With a host of different treatment and research possibilities, it is important to understand which options are best suited for the DLG4 gene. Studies here would focus on identifying the treatment options with the highest likelihood of success for the greatest number of patients in our community. It is likely we will need an ASO, AAV, and a pharmaceutical option to treat the different variants present in the DLG4 community.
Drug Repurposing
Traditional treatments for genetic disorders involve utilizing existing drugs in new ways. This is only possible after potential compounds are tested against cell lines and confirmed to be successful without unwanted results. Research in this area will identify what, if any, existing medications can be used to improve the lives of patients with DLG4 SHINE.
Expanded Natural History Study
Researchers in Denmark are looking for clinicians to administer the in-person interviews for the natural history study in order to gather the remaining data needed to characterize DLG4 SHINE.