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Natural History Study

In order to improve care and develop treatments specific for DLG4 Synaptopathy, a better understanding of the disorder is needed. One way is through collecting information in natural history studies. A natural history study is a type of research study that examines how a disease naturally progresses over time. This can be accomplished in many different ways including (but aren’t limited to) questionnaires and surveys collected over time or reviewing past medical records for trends seen among many patients with the same disorder. It focuses on describing the features and evolution of a disease, and is both retrospective and prospective, collecting data from patients throughout their lifetimes.

Why are natural history studies important?

The data from natural history studies is used to:

  • Identify Research Needs

  • Connect with Patients

  • Inform Drug Development

  • Develop Standards of Care

  • Potentially Replace Placebo Arms in Clinical Trials​

​Learn more about natural history studies from Gayatri Rao, MD, JD, Director of Orphan Products Development at the Food and Drug Administration (FDA).

How can I participate?

DLG4 SHINE Foundation has partnered with several organizations with the goal to collect natural history information and bio-specimen samples for individuals identified with DLG4 Variants. Participating in research studies is an important method for increasing what we know about DLG4 Synaptopathy, and accelerating development of future treatments and therapies.

 

Below is information on all the natural history studies, as well as how they complement each other, and work together.  And, you can help us speed research efforts right away by building a readily-available pool of data on DLG4 Synaptopathy.

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