Patient Registry

Patient registries are important for medical research of DLG4 Synaptopathy. They provide a centralized database of patient information, allowing researchers to collect and analyze data on DLG4 Synaptopathy. This data can be used to identify possible treatment outcomes and evaluate the effectiveness of treatments and interventions over time. For rare diseases, like DLG4 SHINE, registries are particularly valuable to pool data from multiple sources, providing a larger sample size for study.

The DLG4 SHINE Foundation partnered with three amazing organizations to develop patient registries. They each play a crucial role in advancing medical knowledge and improving patient care by providing researchers with valuable data to study DLG4 Synaptopathy. Please take a few minutes to become familiar with each organization and consider participating in these wonderful resources.

More About SIMONS

Simons Searchlight

Simons Searchlight is a research registry for DLG4 Synaptopathy/SHINE Syndrome that works with families and researchers around the world to help speed up research on rare genetic neurodevelopmental disorders.

By collecting detailed information and blood samples, Simons Searchlight takes a deep dive into these disorders. They share the information and blood samples with leading geneticists and scientists around the world to use to improve the lives of people living with rare genetic neurodevelopmental disorders.

The Simons Searchlight registry is comprised of standard questionnaires designed to provide consistently collected data across many diseases to allow for easy comparison. The registry also includes DNA sample collections that will be stored by Simons for future use by researchers. Read more and get involved below.

More About Ciitizen

Ciitizen

Ciitizen is a DLG4 natural history study that uses medical records to collect meaningful information on how a mutation in the DLG4 gene has affected a person’s life, and it includes medical record information across multiple hospitals and providers where a participant has been seen.

Important information that can accelerate research is often trapped in medical records. As a result, drug researchers can’t access the information they need to advance treatments. But as a patient, you can unlock your records and contribute them to research, in a private and secure way.

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.

More About Adult Study

More About CoRDS

CoRDS Registry

We’ve heard from medical professionals and researchers and the consensus is that one of the
first and most important steps we can take as a rare disease community is to have a centralized registry in which to gather data about this disorder.

We’ve chosen to create such a registry in partnership with CoRDS in the hopes to gain a better understanding of the various mechanisms and symptoms of a DLG4-related synaptopathy as well as its progression with age, its impact on everyday life, and the therapies and treatments that work best.

The CoRDS registry is developed by medical professionals and families close to the disorder and provides more specific questions based on typical characteristics of DLG4 Synaptopathy patients. Participation in this registry is critical to building a data set to describe the history and characteristics of the disease. Learn more and join the registry below.

DLG4 SHINE Step-by Step Guide

We've created this step-by-step guide to help newly diagnosed DLG4 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.