Investigating new treatments for rare genetic diseases and leukemia
Splicing Modulators for Rare Disease Indications
This study is looking at new treatment options for people with Niemann-Pick Type C and certain types of acute myeloid leukemia by testing special compounds that might help fix the genetic problems causing these diseases.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Notre Dame NIH-funded |
| Lab location | 1 site (Notre Dame, United States) |
| Project ID | NIH-10692801 on NIH RePORTER |
What this research studies
This research focuses on developing new therapeutic options for Niemann-Pick Type C, a rare genetic disorder, and acute myeloid leukemia (AML) with specific mutations. The team is exploring the effects of polyketides, compounds that have shown promise in modulating RNA splicing, which could lead to improved treatment outcomes. By conducting in vitro studies and using mouse models, the researchers aim to understand how these compounds can target the underlying genetic issues associated with these diseases. Patients may benefit from innovative treatments that address unmet medical needs in these conditions.
Who could benefit from this research
Good fit: Ideal candidates for this research include individuals diagnosed with Niemann-Pick Type C or acute myeloid leukemia with FLT3 mutations.
Not a fit: Patients with other types of leukemia or genetic disorders not related to the focus of this research may not receive any benefit.
Why it matters
Potential benefit: If successful, this research could lead to new, effective treatments for patients suffering from rare genetic diseases and specific types of leukemia.
How similar studies have performed: Other research has shown promise in targeting RNA splicing for therapeutic purposes, indicating that this approach may be viable.
Where this research is happening
Notre Dame, United States
- University of Notre Dame — Notre Dame, United States (Active)
Researchers
- Principal investigator: Taylor, Richard E. — University of Notre Dame
- Study coordinator: Taylor, Richard E.
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.