Learn more about this rare disease, how it affects our families, and how we're helping to find treatment.
Participate in DLG4 Research
Expanding our knowledge of DLG4 Synaptopathy and finding potential treatments relies on participation from the community in research initiatives. Below are several research opportunities for families to participate in on the journey to finding treatment for DLG4 Synaptopathy. Please take a moment to review the programs here and consider providing information and samples to researchers. Family participation is critical to the success of this research.
DLG4-Related Synaptopathy (SHINE syndrome) –
Understanding the Clinical and Genetic Features
Dr Zeynep Tümer and PhD student Amanda Levy (Copenhagen University Hospital, Rigshospitalet) are conducting a study titled “DLG4-Related Synaptopathy (SHINE syndrome) – Understanding the Clinical and Genetic Features” aiming to improve our understanding of the clinical and genetic features caused by genetic variants in the DLG4 gene.
Any individual with a genetic variant on the DLG4 gene is invited to participate. The dynamic survey is intended to be filled by a clinician. Anyone interested in participating to this crucial effort should select the doctor or specialist who knows the patient’s medical history best and provde them with this PDF handout containing research details and the researchers’ contact information.
The Clinical Spectrum of Adults with SHINE Syndrome (DLG4 -Related Synaptopathy)
Dr Zeynep Tümer and her group at Copenhagen University Hospital, Rigshospitalet are conducting a study titled “The clinical spectrum of adults with SHINE Syndrome (DLG4 -Related Synaptopathy)” aiming to improve our understanding of the clinical features of adults with SHINE syndrome (DLG4-related synaptopathy).
Any adult patient or caregiver to an adult loved-one with SHINE syndrome is invited to participate in this study, by completing a secure dynamic online survey.
Genotype/Phenotype Study to Better Understand DLG4 Phenotypes
Children’s Hospital of Philadelphia wants to enroll 25 families in a genotype/phenotype study to better understand DLG4 phenotypes. It is open to all families (adults & children) diagnosed with DLG4 Synaptopathy. Participation involves a 15-minute virtual call with a researcher & access to medical records. It is available to US & International families. If you are interested in participating please email Stacy Guzman at guzmans@chop.edu.
Select Biomarker Projects
COMBINEDBrain will be collecting urine samples and blood samples (processed for plasma and a finger stick) to be stored in the CB Biorepository and available for select biomarker projects as well as other interested researchers. They will also collect several online surveys to be completed by caregivers.
Sample collection happens regularly at conferences throughout the U.S. Visit the CombinedBrain website for more details, or contact Payal Patel for information on how to participate.
Join Patient Registries
Aside from the initiatives above, participation in patient registries is also very important to understanding DLG4 SHINE and finding help for patients. If you have not already, please visit the Registry page and enroll in Simons Searchlight, Ciitizen, and RedCap registries for DLG4 Synaptopathy.
DLG4 SHINE Step-by Step Guide
We've created this step-by-step guide to help newly diagnosed DLG4 SHINE families navigate through the available resources and important process of registration. Start the process or pick-up where you left of by clicking on a step below.
