How sugar decorations on alpha-dystroglycan work
Structure and Function in alpha-Dystroglycan Glycosylation
['FUNDING_R01'] · UNIVERSITY OF GEORGIA · NIH-11257365
Researchers are figuring out how specific sugar chains on alpha-dystroglycan affect muscle, brain, and eye health for people with dystroglycanopathies.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | UNIVERSITY OF GEORGIA (nih funded) |
| Locations | 1 site (ATHENS, UNITED STATES) |
| Trial ID | NIH-11257365 on ClinicalTrials.gov |
What this research studies
This project focuses on the sugar (glycan) modifications of a protein called alpha-dystroglycan that are disrupted in dystroglycanopathies. Researchers use biochemical and structural lab work, CRISPR-based cell screens, and animal models to map the M3 O-mannosylation pathway and the matriglycan structure. They will test preclinical approaches such as boosting the sugar pathway (substrate enhancement) and AAV gene transfer in models. The goal is to generate data that can guide early clinical trials and potential treatments for affected patients.
Who could benefit from this research
Good fit: Ideal candidates would be people with genetically confirmed dystroglycanopathies caused by defects in the O-mannosylation/M3 pathway who are interested in future trials or donating samples.
Not a fit: People with other types of muscular dystrophy not caused by dystroglycan glycosylation defects or those seeking immediate clinical treatment are unlikely to benefit directly from this basic science project.
Why it matters
Potential benefit: If successful, this work could enable new therapies like substrate-enhancement drugs or gene transfer that improve muscle and neurological outcomes for people with dystroglycanopathies.
How similar studies have performed: Prior lab studies have mapped the M3 structure and shown matriglycan mediates binding to partners and some arenaviruses, while therapeutic approaches like AAV gene transfer and substrate enhancement remain early-stage and not yet proven in patients.
Where this research is happening
ATHENS, UNITED STATES
- UNIVERSITY OF GEORGIA — ATHENS, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: WELLS, LANCE — UNIVERSITY OF GEORGIA
- Study coordinator: WELLS, LANCE
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.