Clinical and Basic Investigations Into Congenital Disorders of Glycosylation

Description

The purpose of this research is to study the natural history of congenital disorders of glycosylation and its causes and treatments.

Conditions

Congenital Disorders of Glycosylation

Study Overview

Study Details

Study overview

The purpose of this research is to study the natural history of congenital disorders of glycosylation and its causes and treatments.

Clinical and Basic Investigations Into Congenital Disorders of Glycosylation

Clinical and Basic Investigations Into Congenital Disorders of Glycosylation

Condition
Congenital Disorders of Glycosylation
Intervention / Treatment

-

Contacts and Locations

San Diego

Rady Children's Hospital, San Diego, California, United States, 92123

Aurora

Children's Hospital of Colorado, Aurora, Colorado, United States, 80045

Jacksonville

Mayo Clinic Florida, Jacksonville, Florida, United States, 32224

New Orleans

Tulane University School of Medicine, New Orleans, Louisiana, United States, 70112

Boston

Boston Children's Hospital, Boston, Massachusetts, United States, 02115

Minneapolis

University of Minnesota, Minneapolis, Minnesota, United States, 55454

Rochester

Mayo Clinic in Rochester, Rochester, Minnesota, United States, 55905

New York

Icahn School of Medicine at Mount Sinai, New York, New York, United States, 10029

Philadelphia

Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, United States, 19146

Pittsburgh

Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, United States, 15224

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

For general information about clinical research, read Learn About Studies.

Eligibility Criteria

  • * Individuals with a genetically, enzymatically, or molecularly confirmed diagnosis of CDG or NGLY1 deficiency
  • * None

Ages Eligible for Study

to

Sexes Eligible for Study

ALL

Accepts Healthy Volunteers

No

Collaborators and Investigators

Icahn School of Medicine at Mount Sinai,

Eva Morava-Kozicz, MD, PhD, PRINCIPAL_INVESTIGATOR, Icahn School of Medicine at Mount Sinai

Study Record Dates

2025-07-31