Understanding how TCF4 mutations affect brain cell development in autism.
Investigating the effects of TCF4 mutations during oligodendrocyte development and maturation in a human-derived model of autism spectrum disorder
['FUNDING_FELLOWSHIP'] · LIEBER INSTITUTE, INC. · NIH-10996523
This study is looking at how changes in a specific gene can affect important brain cells that help with nerve insulation, which could help us understand Pitt-Hopkins Syndrome better and find new treatments for it.
Quick facts
| Phase | ['FUNDING_FELLOWSHIP'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | LIEBER INSTITUTE, INC. (nih funded) |
| Locations | 1 site (BALTIMORE, UNITED STATES) |
| Trial ID | NIH-10996523 on ClinicalTrials.gov |
What this research studies
This research investigates the impact of mutations in the TCF4 gene on the development and maturation of oligodendrocytes, which are crucial brain cells involved in myelination. Using patient-derived induced pluripotent stem cells (iPSCs), the study aims to replicate the effects of these mutations in a human model, allowing for a better understanding of how they contribute to conditions like Pitt-Hopkins Syndrome, a rare form of autism spectrum disorder. The research employs both two-dimensional and three-dimensional protocols to differentiate these stem cells into oligodendrocytes, with the goal of identifying potential therapeutic targets for drug screening.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with Pitt-Hopkins Syndrome or those with TCF4 mutations associated with autism spectrum disorder.
Not a fit: Patients without TCF4 mutations or those not diagnosed with autism spectrum disorder may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new treatments that improve brain function and quality of life for individuals with Pitt-Hopkins Syndrome and related conditions.
How similar studies have performed: Previous research using animal models has shown promising results in understanding TCF4 mutations, but this approach in human-derived models is relatively novel.
Where this research is happening
BALTIMORE, UNITED STATES
- LIEBER INSTITUTE, INC. — BALTIMORE, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: ROMERO MORALES, ALEJANDRA INES — LIEBER INSTITUTE, INC.
- Study coordinator: ROMERO MORALES, ALEJANDRA INES
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 Spectrum Disorder patient, Autistic Disorder