Small-molecule treatments for myotonic dystrophy type 1
Small molecule therapeutics for myotonic dystrophy type 1
Developing new small-molecule drugs that target the toxic RNA that causes myotonic dystrophy type 1 for people living with DM1.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Southern California NIH-funded |
| Lab location | 1 site (Los Angeles, UNITED STATES) |
| Project ID | NIH-11263628 on NIH RePORTER |
What this research studies
This project looks for drug-like small molecules that bind the expanded CUG repeat RNA from the DMPK gene, the toxic RNA that drives DM1. The team used an RNA-based screen of 40,000 compounds and found multiple hits that reduce nuclear RNA foci in patient cells and perform well compared with a prototype compound (MDI16) and antisense oligonucleotides. Leads are being rank-ordered by potency, selectivity, efficacy, and safety in cellular assays and in the HSALR mouse model. The best candidates would be advanced toward further preclinical development and potential future human testing.
Who could benefit from this research
Good fit: People with genetically confirmed myotonic dystrophy type 1 (expanded CTG repeats in DMPK) who are interested in future clinical trials would be the likely candidates.
Not a fit: Individuals without DM1, or those whose symptoms are due to other conditions, would not benefit from this DM1-specific research.
Why it matters
Potential benefit: If successful, this work could produce drug candidates that reduce toxic RNA and improve muscle and neurological symptoms in people with DM1.
How similar studies have performed: Related antisense oligonucleotide approaches and the prototype small molecule MDI16 have improved molecular and tissue features of DM1 in patient cells and mouse models, though clear benefit in people has not yet been established.
Where this research is happening
Los Angeles, UNITED STATES
- University of Southern California — Los Angeles, United States (Active)
Researchers
- Principal investigator: Comai, Lucio — University of Southern California
- Study coordinator: Comai, Lucio
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.