Comparing brain, behavior, and care in rare genetic conditions linked to autism
Pilot project
Researchers will collect medical, thinking, and brain activity information from people with rare genetic conditions tied to autism to look for patterns that could guide future care.
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-11173363 on NIH RePORTER |
What this research studies
This consortium brings together hospitals to collect standardized thinking, behavior, and medical data from people with Phelan-McDermid syndrome (22q13 deletion) and related genetic conditions such as TSC, PHTS, and SYNGAP1-ID. You may be asked to complete neuropsychological tests, share medical records, take part in EEG/other brain measurements, and provide samples for smaller pilot studies. Pilot projects at consortium sites — sometimes supported by patient groups — can include early drug safety work or searches for biological markers of disease. The overall aim is to document how these conditions change over time, improve access to care, and find clues that could lead to better treatments.
Who could benefit from this research
Good fit: People with Phelan-McDermid syndrome (22q13 deletion) or related autism-linked genetic conditions (TSC, PHTS, SYNGAP1-ID) who can attend visits at a participating DSC site or take part in consortium activities are ideal candidates.
Not a fit: People without these specific genetic diagnoses or those unable to visit participating centers are unlikely to get direct benefit from this project.
Why it matters
Potential benefit: If successful, the work could lead to clearer diagnoses, useful biomarkers, and new treatment approaches for people with these genetic conditions.
How similar studies have performed: Previous DSC pilot projects have led to an early-phase drug trial and promising biomarker and natural-history findings, so this approach has produced useful leads but still needs larger follow-up work.
Where this research is happening
Boston, United States
- Boston Children's Hospital — Boston, United States (Active)
Researchers
- Principal investigator: Buxbaum, Joseph D. — Boston Children's Hospital
- Study coordinator: Buxbaum, Joseph D.
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.