Understanding congenital disorders of glycosylation and improving patient care
Frontiers in Congenital Disorders of Glycosylation
This study is all about understanding congenital disorders of glycosylation (CDG) better, so we're collecting information from patients to help create a registry and find better ways to diagnose and treat these conditions, including trying out new dietary approaches to improve quality of life for those affected.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Icahn School of Medicine at Mount Sinai NIH-funded |
| Lab location | 1 site (New York, United States) |
| Project ID | NIH-11078498 on NIH RePORTER |
What this research studies
This research focuses on congenital disorders of glycosylation (CDG), a group of over 130 genetic conditions that affect metabolism. The project aims to gather natural history data, create a comprehensive patient registry, and develop reliable screening methods for various CDG types. By collaborating with a network of clinicians and scientists, the research seeks to validate disease biomarkers and improve diagnostics, ultimately enhancing the quality of life for affected patients. Initial clinical trials have begun, exploring dietary interventions as a potential treatment approach.
Who could benefit from this research
Good fit: Ideal candidates for this research include individuals diagnosed with congenital disorders of glycosylation or those suspected of having these conditions.
Not a fit: Patients with conditions unrelated to congenital disorders of glycosylation may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to better diagnostics and treatment options for patients with congenital disorders of glycosylation.
How similar studies have performed: Other research efforts have shown promise in understanding and treating metabolic disorders, but this approach to CDG is relatively novel.
Where this research is happening
New York, United States
- Icahn School of Medicine at Mount Sinai — New York, United States (Active)
Researchers
- Principal investigator: Morava-Kozicz, Eva — Icahn School of Medicine at Mount Sinai
- Study coordinator: Morava-Kozicz, Eva
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.