Actively Recruiting

All Genders
NCT04199000

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

All Genders

Eligibility Criteria

Eligible

You may qualify if you...

  • Individuals with a genetically, enzymatically, or molecularly confirmed diagnosis of CDG or NGLY1 deficiency
Not Eligible

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

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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

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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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