Preparing treatments for SHANK3- and SYNGAP1-related autism and intellectual disability
Clinical trial readiness for targeting neuropsychiatric manifestations in SHANK3 and SYNGAP1 pathogenic variants
This project builds a multi-site network to find measurable brain and blood markers and get ready for clinical trials of treatments for people with SHANK3 or SYNGAP1 genetic variants linked to autism and intellectual disability.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Boston Children's Hospital NIH-funded |
| Lab location | 1 site (Boston, United States) |
| Project ID | NIH-11173362 on NIH RePORTER |
What this research studies
Seven specialized centers are teaming up to enroll about 250 people across the lifespan who have SHANK3, SYNGAP1, or related genetic diagnoses. Participants will have detailed neurobehavioral testing, medical exams, and collection of biological samples over time to define symptom patterns and potential biomarkers. The researchers will compare findings across related genetic conditions and link human data with lab model results to pinpoint treatment targets. The work is meant to create the clinical, biological, and logistical groundwork needed to run future clinical trials.
Who could benefit from this research
Good fit: Ideal candidates are people of any age with a confirmed pathogenic SHANK3 or SYNGAP1 variant (or recognized diagnoses such as Phelan-McDermid or SYNGAP1-related ID) who can attend study visits at a participating site.
Not a fit: People without one of the specified genetic diagnoses or those unable to take part in serial visits and biological sampling are unlikely to receive direct benefit from joining.
Why it matters
Potential benefit: If successful, this effort could speed development of targeted, mechanism-based treatments and help match the right therapies to people with SHANK3 or SYNGAP1-related conditions.
How similar studies have performed: Laboratory and animal studies have shown synaptic problems in SHANK3 and SYNGAP1 and some early biomarker work exists, but applying those findings to human clinical trials is still largely new.
Where this research is happening
Boston, United States
- Boston Children's Hospital — Boston, United States (Active)
Researchers
- Principal investigator: Kolevzon, Alexander — Boston Children's Hospital
- Study coordinator: Kolevzon, Alexander
About this research
- This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
- Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
- For full project details, budget, and progress reports, visit the official NIH RePORTER page below.