Finding new treatments and how they work for congenital glycosylation disorders
Identifying New Therapeutics and Molecular Mechanisms in Congenital Disorders of Glycosylation.
This project looks for existing medicines and gene changes that could help people with congenital disorders of glycosylation, focusing on DPAGT1-CDG.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Kansas Lawrence NIH-funded |
| Lab location | 1 site (Lawrence, United States) |
| Project ID | NIH-11176358 on NIH RePORTER |
What this research studies
Researchers will study human cell models that carry DPAGT1-related defects to see how certain modifier genes improve cell growth, reduce stress, and change the patterns of protein sugars. They will then test over 1,500 mostly FDA- or EMA-approved drugs in a fruit fly (Drosophila) model of DPAGT1-CDG to find compounds that rescue disease features in a living animal. Promising genes and drugs from these lab and fly tests would be prioritized as potential treatment leads for further preclinical work. The approach uses both patient-relevant human cells and an in vivo screen to speed up discovery of repurposed drugs and biological targets.
Who could benefit from this research
Good fit: People with a confirmed diagnosis of DPAGT1-related CDG or other congenital disorders of glycosylation, and families willing to provide samples or consider future trials, would be the most relevant candidates.
Not a fit: People without a CDG diagnosis or whose genetic cause lies outside DPAGT1-related pathways are unlikely to gain direct benefit from this specific project.
Why it matters
Potential benefit: If successful, this work could reveal drug candidates and biological targets that lead to new treatments for people with CDGs like DPAGT1-CDG.
How similar studies have performed: Using human cell models and repurposed drug screens in animal models has produced promising leads in other rare genetic disorders, but applying these methods to DPAGT1-CDG is relatively new.
Where this research is happening
Lawrence, United States
- University of Kansas Lawrence — Lawrence, United States (Active)
Researchers
- Principal investigator: Dalton, Hans Martin — University of Kansas Lawrence
- Study coordinator: Dalton, Hans Martin
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.