Bridge the Gap – SYNGAP Clinical Research Studies
Bridge the Gap – SYNGAP Education and Research Foundation is actively seeking SYNGAP1 Families to participate in our ongoing clinical research studies at our Centers of Excellence. If you have questions about participating or would like to get more information, please reach out to us at email@example.com.
SYNGAP1 Clinical Research Studies
SYNGAP1 (MRD5) Registry and Natural History Study
The primary aim of the SYNGAP1 (MRD5) Natural History Study Registry is to conduct a prospectively-planned and efficient natural history study that will result in the most comprehensive understanding of the disease and its course and pace over time. A critical amount of clinical information is needed to understand what is causing any disease and the purpose of registries are to capture information from each patient that may shed light on understanding how to pursue treatments. Since SYNGAP is rare, there are so few patients, it is critical that every patient is registered. This information will bring together information in order to understand the diversity of the disease. This program is made possible with the help and partnership of the National Organization of Rare Disease (NORD) and the US Federal Drug Administration (FDA).
KKI/John's Hopkins Research Study - Sleep, Cognition, Behaviors and Sensory Processing Disorders
We are recruiting children with SYNGAP1 ages 3 – 17 years to study sleep, cognition, challenging behaviors, and sensory processing difficulties.
Johns Hopkins Sleep Study Recordings Translational Science Study
Children diagnosed with SYNGAP1 mutations are often reported to have sleep disorders. However, there is no clear understanding of the macro-, micro-sleep architecture and EEG spectral power anomalies that underlie such dysfunction. Such spectral power anomalies could also underlie the intellectual disabilities consistently reported for SYNGAP1 since memory consolidation and learning are known to heavily depend on the stability of NREM and REM cycles during sleep.
Rare Epilepsy Network (REN)
To expedite research into the rare epilepsies, 22 rare epilepsy foundations have joined forces with the Epilepsy Foundation, Research Triangle Institute, Columbia University, and New York University to create the first-ever Rare Epilepsy Network (REN). With seed funding from the Patient-Centered Outcomes Research Institute (PCORI), the REN is building a patient registry to collect information about rare epilepsy patients to better understand these conditions, improve treatments, and improve the lives and quality of care of patients living with them. A registry gathers and keeps information about people with a certain condition to support and encourage research into that condition. The information people provide is stored in a secure database; Information is given to researchers without names or identifying information of participants.
Simon's Searchlight Autism Study
Since September 2010, the Simons Searchlight has been recruiting families to participate in a research study aimed to better understand the medical, learning and behavioral features of individuals with genetic changes associated with features of autism, developmental delays, and other neurodevelopmental concerns (like seizures). We also aim to identify the needs of their families while providing support through education, access to experts, and by connecting with other families.