SYNGAP1 Clinical Research Studies
We are Committed to a Better Future for All SYNGAP1 Patients and Families!
Mutations in the SYNGAP1 gene were first described in 2009 in patients with non-syndromic intellectual disability. Since that first description, a number of subsequent reports have provided additional information about the breadth of symptoms associated with SYNGAP1 mutations. While this work has provided a general clinical picture, it has failed to provide quantitative natural history data that will be necessary to identify useful biomarkers for future clinical trials. One phenotype described in multiple reports includes abnormalities in walking (gait). While this has been described qualitatively, it has not been investigated quantitatively in patients with SYNGAP1 mutations. We propose detailed gait analysis in a prospective study as a prelude to submission of a larger scale prospective natural history study. These data will be useful as quantitative biomarkers for future clinical trials for novel therapies for SYNGAP1-related disorder.
A SYNGAP1 Foundation Funded Study
SYNGAP1| Sick Kids Hospital
We want to increase our knowledge of ASD biology to support better diagnosis and treatment. While laboratory studies on ASD suggest that structure and function of brain cells is altered, there are currently no ways to detect those changes in living people. The eye offers a “window” to examine these changes. The sheet of brain-like tissue in the eye called the retina is responsible for sensing and processing light.
Tests done as part of routine eye care can assess the structure and function of the retina in high detail. This approach may reveal changes in people with ASD that can increase our understanding of ASD biology.
For participating and completing the study a $100 CAD will be provided to cover the cost of travel.
Email to Arrange a Call to Discuss
Patients with SYNGAP1-related Disorder condition are treated by specialists in our Neurology Program. Neurologists at Kennedy Krieger Institute provide diagnostic services, therapeutic interventions, and genetic counseling for various disorders affecting the brain and central nervous system in infants, children, and adolescents. They also see adults in specific cases to treat the individual throughout the lifespan.
A SYNGAP1 Foundation Funded Study
The SYNGAP1 Foundation provides valuable information to support this study from the SYNGAP1 Patient Registry and Registry. Learn more about our database HERE.
VOLUNTEERS NEEDED FOR THE RESEARCH PROJECT
Describing and understanding neurodevelopmental conditions of genetic cause.
Why are we doing this research?
We are looking for volunteers to take part in a research study that we are doing about genetic forms of neurodevelopmental conditions. We aim to describe how genetic code changes affect people with neurodevelopmental conditions. Our hope is that this will:
i) help us better understand people with neurodevelopmental conditions and genetic changes
ii) improve our chances of developing new therapies
iii) make it easier to do clinical trials to test new therapies
You can contact the researchers directly by email or telephone if you have any questions: Damien Wright: 0131 537 6431; dwrigh12@exseed.ed.ac.uk
SYNGAP1-related Intellectual Disability (ID) is a genetic condition linked with ID, autism, epilepsy, and sleep problems, amongst other health conditions.
Sleep is important when growing up, but people with ID are more likely to have sleep problems than other people. Sleep problems can cause difficulties in thinking skills, memory, behavior, emotional functioning, and quality of life. These side effects can be even more problematic for people with ID, who already have social and behavioral difficulties. Understanding their sleep patterns is important to try and develop effective therapies for them.
The SYNGAP1 Foundation provides valuable information to support this study from the SYNGAP1 Patient Registry. Learn more about our database HERE.
Join a research study at the National Cancer Institute’s Division of Cancer Epidemiology and Genetics. The purpose of the study is to understand what causes RASopathies, and how we can better screen for and treat these
syndromes.
Beckett Weldon, our founder's son was selected to be the SYNGAP1 Face of a Rasopathy.
To Learn More About Ongoing Studies, Visit NIH Center for Advancing Translational Sciences.
SYNGAP1-related Disorders
- Other Names: Autosomal dominant intellectual disability 5; MRD5; SYNGAP1 syndrome; SYNGAP1-related Disorder; Syngap1 Gene Mutation Linked To Intellectual Disability, Epilepsy, Sensory Processing Disorder, Autism, and Schizophrenia.