RNA-based treatment for repeat expansion brain and nerve disorders
Therapeutic strategies for microsatellite expansion diseases using RNA targeting
['FUNDING_R01'] · UNIVERSITY OF CALIFORNIA, SAN DIEGO · NIH-11252341
Developing a long-lasting, low-immune RNA therapy delivered by harmless AAV for adults with diseases caused by DNA repeat expansions such as Huntington's, C9orf72 ALS/FTD, and myotonic dystrophy.
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-11252341 on ClinicalTrials.gov |
What this research studies
If this work leads to a treatment, you might receive a one-time AAV-delivered therapy that uses human spliceosomal RNAs to lower the toxic RNA made from expanded DNA repeats. The team is designing the approach to be non-immunogenic so it can be safely and durably expressed in affected tissues. Early work uses cell and animal models to show the method can reduce mutant RNA levels and guide safer delivery strategies for people.
Who could benefit from this research
Good fit: Adults with a confirmed genetic diagnosis of a microsatellite repeat expansion disorder (for example Huntington disease, C9orf72-associated ALS/FTD, or myotonic dystrophy) would be the ideal candidates.
Not a fit: People without a repeat expansion diagnosis, children, or those whose illness is not driven by toxic repeat RNA are unlikely to benefit from this approach.
Why it matters
Potential benefit: Could lower the toxic mutant RNA that drives symptoms and potentially slow or prevent progression across many repeat expansion disorders.
How similar studies have performed: Related approaches like antisense oligonucleotides and AAV gene delivery have shown promise in models and some early trials, but this human spliceosomal RNA platform is a novel and less-tested strategy.
Where this research is happening
LA JOLLA, UNITED STATES
- UNIVERSITY OF CALIFORNIA, SAN DIEGO — LA JOLLA, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: YEO, EUGENE WEI-MING — UNIVERSITY OF CALIFORNIA, SAN DIEGO
- Study coordinator: YEO, EUGENE WEI-MING
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.