Understanding the causes of Pitt-Hopkins Syndrome
Investigation of Pitt-Hopkins Syndrome pathophysiology using a human model
['FUNDING_R01'] · UNIVERSITY OF CALIFORNIA, SAN DIEGO · NIH-11010742
This study is looking at how changes in a specific gene related to Pitt-Hopkins Syndrome affect brain development, with the hope of finding new treatments that can help children with this condition and their families.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | UNIVERSITY OF CALIFORNIA, SAN DIEGO (nih funded) |
| Locations | 1 site (LA JOLLA, UNITED STATES) |
| Trial ID | NIH-11010742 on ClinicalTrials.gov |
What this research studies
This research investigates Pitt-Hopkins Syndrome (PTHS), a genetic condition linked to autism spectrum disorders, by examining how mutations in the TCF4 gene affect brain development. Using human models, the study aims to uncover the cellular and neural changes that occur due to these mutations. By identifying the underlying mechanisms, the research seeks to develop targeted therapies that could potentially correct the genetic defects associated with PTHS. This approach may lead to better treatment options for affected children and their families.
Who could benefit from this research
Good fit: Ideal candidates for this research are children diagnosed with Pitt-Hopkins Syndrome, particularly those exhibiting severe intellectual and developmental challenges.
Not a fit: Patients with autism spectrum disorders not related to TCF4 mutations may not benefit from this specific research.
Why it matters
Potential benefit: If successful, this research could lead to new therapies that improve the quality of life for children with Pitt-Hopkins Syndrome.
How similar studies have performed: Previous research has shown promise in understanding genetic disorders through similar cellular and molecular approaches, indicating potential for success in this area.
Where this research is happening
LA JOLLA, UNITED STATES
- UNIVERSITY OF CALIFORNIA, SAN DIEGO — LA JOLLA, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: MUOTRI, ALYSSON R. — UNIVERSITY OF CALIFORNIA, SAN DIEGO
- Study coordinator: MUOTRI, ALYSSON R.
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.
Conditions: autism spectral disorder, autism spectrum disorder