Actively Recruiting
Clinical and Basic Investigations Into Congenital Disorders of Glycosylation
Led by Icahn School of Medicine at Mount Sinai · Updated on 2025-08-26
500
Participants Needed
12
Research Sites
564 weeks
Total Duration
On this page
Sponsors
I
Icahn School of Medicine at Mount Sinai
Lead Sponsor
N
National Institute of Neurological Disorders and Stroke (NINDS)
Collaborating Sponsor
AI-Summary
What this Trial Is About
The purpose of this research is to study the natural history of congenital disorders of glycosylation and its causes and treatments.
CONDITIONS
Official Title
Clinical and Basic Investigations Into Congenital Disorders of Glycosylation
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Individuals with a genetically, enzymatically, or molecularly confirmed diagnosis of CDG or NGLY1 deficiency
You will not qualify if you...
History of severe allergic reactions to study medication Currently pregnant or breastfeeding Recent participation in another clinical trial within the last 30 days Presence of uncontrolled medical conditions that could affect safety
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 12 locations
1
Rady Children's Hospital
San Diego, California, United States, 92123
Actively Recruiting
2
Children's Hospital of Colorado
Aurora, Colorado, United States, 80045
Actively Recruiting
3
Mayo Clinic Florida
Jacksonville, Florida, United States, 32224
Actively Recruiting
4
Tulane University School of Medicine
New Orleans, Louisiana, United States, 70112
Not Yet Recruiting
5
Boston Children's Hospital
Boston, Massachusetts, United States, 02115
Actively Recruiting
6
University of Minnesota
Minneapolis, Minnesota, United States, 55454
Actively Recruiting
7
Mayo Clinic in Rochester
Rochester, Minnesota, United States, 55905
Actively Recruiting
8
Icahn School of Medicine at Mount Sinai
New York, New York, United States, 10029
Actively Recruiting
9
Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, United States, 19146
Actively Recruiting
10
Children's Hospital of Pittsburgh
Pittsburgh, Pennsylvania, United States, 15224
Actively Recruiting
11
Baylor College of Medicine
Houston, Texas, United States, 77030
Actively Recruiting
12
Seattle Children's Hospital
Seattle, Washington, United States, 98105
Actively Recruiting
Research Team
E
Eva Morava-Kozicz, PhD, MD
CONTACT
M
Mary Freeman, MS, CGC
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
0
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