Understanding how sugar modifications affect brain function in genetic disorders
O-glycosylation mechanisms of neurological deficits in congenital disorders of glycosylation
['FUNDING_CAREER'] · CHILDREN'S HOSP OF PHILADELPHIA · NIH-10909981
This study is looking at how changes in a process that helps proteins work properly in the brain might cause problems like epilepsy and developmental delays in people with congenital disorders of glycosylation (CDG), and it hopes to find new ways to help treat these issues.
Quick facts
| Phase | ['FUNDING_CAREER'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | CHILDREN'S HOSP OF PHILADELPHIA (nih funded) |
| Locations | 1 site (PHILADELPHIA, UNITED STATES) |
| Trial ID | NIH-10909981 on ClinicalTrials.gov |
What this research studies
This research investigates the role of glycosylation, a crucial process that modifies proteins, in the brain's functioning, particularly in patients with congenital disorders of glycosylation (CDG). By using mouse models and advanced techniques to analyze glycoproteins, the study aims to uncover how disruptions in glycosylation lead to neurological issues such as epilepsy and developmental delays. The findings could help clarify the biological mechanisms behind these disorders and pave the way for new treatments targeting glycosylation pathways.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with congenital disorders of glycosylation, particularly those experiencing neurological symptoms.
Not a fit: Patients without congenital disorders of glycosylation or those not exhibiting neurological deficits may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to improved understanding and treatment options for patients suffering from neurological deficits associated with congenital disorders of glycosylation.
How similar studies have performed: Previous research has shown promising results in understanding glycosylation's role in various neurological conditions, suggesting that this approach could yield significant insights.
Where this research is happening
PHILADELPHIA, UNITED STATES
- CHILDREN'S HOSP OF PHILADELPHIA — PHILADELPHIA, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: EDMONDSON, ANDREW CHARLES — CHILDREN'S HOSP OF PHILADELPHIA
- Study coordinator: EDMONDSON, ANDREW CHARLES
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.