Understanding a genetic disorder affecting glycosylation in children
Molecular basis of congenital disorder of glycosylation type 1N
['FUNDING_R21'] · WEILL MEDICAL COLL OF CORNELL UNIV · NIH-10700974
This study is looking into a rare genetic condition called congenital disorder of glycosylation type 1N, which affects how certain proteins work in the body, and it's aimed at helping kids with this condition by figuring out how a specific protein called RFT1 causes problems like developmental delays and hearing loss, so that better treatments can be developed.
Quick facts
| Phase | ['FUNDING_R21'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | WEILL MEDICAL COLL OF CORNELL UNIV (nih funded) |
| Locations | 1 site (NEW YORK, UNITED STATES) |
| Trial ID | NIH-10700974 on ClinicalTrials.gov |
What this research studies
This research investigates congenital disorder of glycosylation type 1N, a genetic condition that disrupts the process of N-glycosylation, which is crucial for the proper functioning of glycoproteins. The study aims to uncover the molecular mechanisms behind this disorder, particularly focusing on the role of the RFT1 protein and how its mutations lead to severe symptoms such as developmental delays and hearing loss. By analyzing patient samples and cellular models, the researchers hope to identify potential therapeutic targets and improve understanding of this rare condition. The findings could pave the way for future treatments and interventions for affected children.
Who could benefit from this research
Good fit: Ideal candidates for this research are children diagnosed with congenital disorder of glycosylation type 1N, particularly those exhibiting symptoms like sensorineural deafness and developmental delays.
Not a fit: Patients with other forms of congenital disorders of glycosylation that do not involve RFT1 mutations may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new insights and potential therapies for children suffering from congenital disorder of glycosylation type 1N.
How similar studies have performed: While research on other congenital disorders of glycosylation has shown promise, the specific approach to understanding CDG type 1N is relatively novel and untested.
Where this research is happening
NEW YORK, UNITED STATES
- WEILL MEDICAL COLL OF CORNELL UNIV — NEW YORK, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: MENON, ANANT K — WEILL MEDICAL COLL OF CORNELL UNIV
- Study coordinator: MENON, ANANT K
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.