Understanding and treating cognitive challenges in Kabuki syndrome
Preparing for a Clinical Trial in Kabuki Syndrome- Characterization of Cognitive and Neuroanatomical Features and Pilot Treatment Trial
This study is looking at Kabuki syndrome, a rare genetic condition that affects learning and thinking, to better understand the challenges people face and to explore possible treatments that might help improve their lives.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Hugo W. Moser Res Inst Kennedy Krieger NIH-funded |
| Lab location | 1 site (Baltimore, United States) |
| Project ID | NIH-10874717 on NIH RePORTER |
What this research studies
This research focuses on Kabuki syndrome, a rare genetic disorder that leads to intellectual disability and specific cognitive impairments. The project aims to identify and characterize these cognitive challenges through detailed assessments and to explore potential treatment options that have shown promise in animal models. By evaluating cognitive and behavioral outcomes in affected individuals, the research seeks to establish reliable measures and develop a targeted therapeutic strategy. This could provide valuable insights into the condition and improve the quality of life for those affected.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with Kabuki syndrome, particularly those experiencing cognitive and behavioral challenges.
Not a fit: Patients without a diagnosis of Kabuki syndrome or those who do not exhibit cognitive impairments may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to the first effective treatment options for cognitive impairments associated with Kabuki syndrome.
How similar studies have performed: Previous studies in animal models have shown success in normalizing cognitive deficits associated with Kabuki syndrome, indicating potential for similar outcomes in human subjects.
Where this research is happening
Baltimore, United States
- Hugo W. Moser Res Inst Kennedy Krieger — Baltimore, United States (Active)
Researchers
- Principal investigator: Harris, Jacqueline — Hugo W. Moser Res Inst Kennedy Krieger
- Study coordinator: Harris, Jacqueline
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.