Investigating congenital disorders of glycosylation
Official title: Clinical and Basic Investigations Into Congenital Disorders of Glycosylation
Run by Icahn School of Medicine at Mount Sinai · NCT04199000 · Data updated 2026-11-12
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 |
|---|---|
| Sex | All |
| Enrollment | 500 (estimated) |
| Sponsor | Icahn School of Medicine at Mount Sinai Academic / other |
| Locations | 12 sites (San Diego, California and 11 other locations) |
| Status | Recruiting |
| Started | October 8, 2019 |
| Main results expected | July 31, 2030 |
| Study ends | July 31, 2030 |
| Registry record updated | July 21, 2026 |
| Trial ID | NCT04199000 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Ideal candidates include individuals with a confirmed diagnosis of congenital disorders of glycosylation or NGLY1 deficiency.
✕Probably not a fit
Patients without a confirmed diagnosis of CDG or NGLY1 deficiency may not benefit from this study.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
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.
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 gone: Other studies investigating the natural history of genetic disorders have shown promise, suggesting that this approach could yield valuable insights.
Who can join: the full rules
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 it's running
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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 -
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
Show 6 more locations
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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 -
Tulane University School of Medicine
New Orleans, Louisiana, United States Not yet 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
Similar studies
Other studies for the same condition or treatment. Recruiting studies are listed first.
-
Investigating congenital disorders of glycosylation
This study is looking to learn more about congenital disorders of glycosylation by gathering information and samples from people of all ages who have or might have these conditions.
-
NMN in DHDDS-CDG: is this safe and tolerable for people with DHDDS-CDG?
This study tests whether taking NMN daily is safe and tolerable for people with DHDDS-CDG.
How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.