Investigating congenital disorders of glycosylation
Clinical and Basic Investigations Into Congenital Disorders of Glycosylation
This study looks at how congenital disorders of glycosylation affect patients over time by tracking their symptoms, diet, and health to better understand the condition.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 500 (estimated) |
| Sex | All |
| Sponsor | Icahn School of Medicine at Mount Sinai Academic / other |
| Locations | 12 sites (San Diego, California and 11 other locations) |
| Trial ID | NCT04199000 on ClinicalTrials.gov |
What this trial studies
This research focuses on understanding the natural history of congenital disorders of glycosylation (CDG) by observing patients with confirmed diagnoses. The study aims to document the progression of the disease, clinical symptoms, and variations among different patient groups. Participants will complete questionnaires regarding their symptoms and diet, and provide biological samples for biomarker testing. Additionally, dietary records, physical exams, and assessments of disease severity will be conducted to gather comprehensive data.
Who should consider this trial
Good fit: Ideal candidates include individuals with a confirmed diagnosis of congenital disorders of glycosylation or NGLY1 deficiency.
Not a fit: Patients without a confirmed diagnosis of CDG or NGLY1 deficiency may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to improved understanding and management of congenital disorders of glycosylation.
How similar studies have performed: Other studies investigating the natural history of genetic disorders have shown promise, suggesting that this approach could yield valuable insights.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * Individuals with a genetically, enzymatically, or molecularly confirmed diagnosis of CDG or NGLY1 deficiency Exclusion Criteria: * None
Where this trial is running
San Diego, California and 11 other locations
- Rady Children's Hospital — San Diego, California, United States (Recruiting)
- Children's Hospital of Colorado — Aurora, Colorado, United States (Recruiting)
- Mayo Clinic Florida — Jacksonville, Florida, United States (Recruiting)
- Tulane University School of Medicine — New Orleans, Louisiana, United States (Not_yet_recruiting)
- Boston Children's Hospital — Boston, Massachusetts, United States (Recruiting)
- University of Minnesota — Minneapolis, Minnesota, United States (Recruiting)
- Mayo Clinic in Rochester — Rochester, Minnesota, United States (Recruiting)
- Icahn School of Medicine at Mount Sinai — New York, New York, United States (Recruiting)
- Children's Hospital of Philadelphia — Philadelphia, Pennsylvania, United States (Recruiting)
- Children's Hospital of Pittsburgh — Pittsburgh, Pennsylvania, United States (Recruiting)
- Baylor College of Medicine — Houston, Texas, United States (Recruiting)
- Seattle Children's Hospital — Seattle, Washington, United States (Recruiting)
Study contacts
- Principal investigator: Eva Morava-Kozicz, MD, PhD — Icahn School of Medicine at Mount Sinai
- Study coordinator: Eva Morava-Kozicz, PhD, MD
- Email: eva.morava@mssm.edu
- Phone: (504) 444-9386
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.