Developing drugs to block toxic CAG expansions in spinocerebellar ataxias
Alternative Splicing and Development of Small Molecule Therapeutics in CAG Expansion Spinocerebellar Ataxias
Looking for approved drugs and natural compounds that can lower harmful CAG‑expanded RNA and proteins to help people with CAG‑expansion spinocerebellar ataxias.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | State University of New York at Albany NIH-funded |
| Lab location | 1 site (Albany, United States) |
| Project ID | NIH-11238900 on NIH RePORTER |
What this research studies
This project searches for small molecules that bind the toxic CAG RNA produced in several inherited spinocerebellar ataxias. The team created a reporter cell line with CAG repeats to screen libraries of FDA‑approved drugs and natural products. Promising hits are tested in patient‑derived fibroblasts and in an SCA1 mouse model to confirm reductions in CAG transcripts and toxic proteins. The aim is to find medicines that could work across multiple CAG‑expansion SCAs and advance toward clinical testing.
Who could benefit from this research
Good fit: People with genetically confirmed CAG‑expansion spinocerebellar ataxias (for example SCA1, SCA3, SCA7 and related CAG disorders) would be ideal candidates to donate samples or join future clinical trials.
Not a fit: People whose ataxia is caused by non‑CAG genetic changes or by unrelated neurological conditions are unlikely to benefit from these CAG‑targeted approaches.
Why it matters
Potential benefit: If successful, this work could yield drugs that reduce the toxic RNA or protein driving multiple CAG‑expansion SCAs and slow disease progression.
How similar studies have performed: Related small molecules that target repeat RNAs showed promise in myotonic dystrophy, and initial tests here reduced CAG transcripts in patient cells and SCA1 mice, so the approach builds on prior success but still needs translation to humans.
Where this research is happening
Albany, United States
- State University of New York at Albany — Albany, United States (Active)
Researchers
- Principal investigator: Berglund, Andrew — State University of New York at Albany
- Study coordinator: Berglund, Andrew
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.