Correcting polyamine levels to help people with Bachmann‑Bupp and Snyder‑Robinson syndromes
Leveraging modulation of polyamine metabolism for therapeutic advantage in genetic disorders
Testing whether drugs that fix high or low polyamine levels can improve symptoms in people with rare genetic neurodevelopmental conditions like Bachmann‑Bupp and Snyder‑Robinson syndromes.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Michigan State University NIH-funded |
| Lab location | 1 site (East Lansing, United States) |
| Project ID | NIH-11284080 on NIH RePORTER |
What this research studies
Researchers are focused on rare genetic disorders caused by problems in polyamine metabolism, including Bachmann‑Bupp syndrome (ODC1) and Snyder‑Robinson syndrome (SMS). If you take part, you may be asked to provide medical information and biological samples and researchers may study your cells and use animal models to understand the biology. The team is testing drugs that change polyamine levels — including the FDA‑approved ODC inhibitor DFMO — to see if symptoms can be reduced or reversed. They will also look for other gene changes in the polyamine pathway that might respond to the same treatments and may invite patients to clinical observation or treatment protocols.
Who could benefit from this research
Good fit: People with a confirmed genetic diagnosis of Bachmann‑Bupp syndrome (ODC1), Snyder‑Robinson syndrome (SMS), or similar polyamine‑pathway mutations would be the best candidates.
Not a fit: People without polyamine‑pathway mutations or whose symptoms are unrelated to polyamine imbalance are unlikely to benefit from these specific interventions.
Why it matters
Potential benefit: If successful, treatments that normalize polyamine levels could reduce symptoms and improve development and quality of life for people with these rare genetic conditions.
How similar studies have performed: Early patient reports and laboratory/animal studies show DFMO can improve symptoms in BABS, but applying polyamine‑modulating drugs more broadly to SRS and other related disorders is relatively new.
Where this research is happening
East Lansing, United States
- Michigan State University — East Lansing, United States (Active)
Researchers
- Principal investigator: Bachmann, Andre S — Michigan State University
- Study coordinator: Bachmann, Andre S
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.