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Clinical and Basic Investigations Into Congenital Disorders of Glycosylation

RecruitingObservational study

Who can join

All ages · All sexes

Full eligibility criteria
Inclusion Criteria:

* Individuals with a genetically, enzymatically, or molecularly confirmed diagnosis of CDG or NGLY1 deficiency

Exclusion Criteria:

* None

About the study

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

Sponsor: Icahn School of Medicine at Mount Sinai · Participants: 500 · Started: Oct 8, 2019

Contact the study team

Official record on ClinicalTrials.gov — NCT04199000

Locations in the U.S.

CaliforniaRady Children's Hospital, San Diego
ColoradoChildren's Hospital of Colorado, Aurora
FloridaMayo Clinic Florida, Jacksonville
LouisianaTulane University School of Medicine, New Orleans (Not yet recruiting)
MassachusettsBoston Children's Hospital, Boston
MinnesotaUniversity of Minnesota, Minneapolis
Mayo Clinic in Rochester, Rochester
New YorkIcahn School of Medicine at Mount Sinai, New York
PennsylvaniaChildren's Hospital of Philadelphia, Philadelphia
Children's Hospital of Pittsburgh, Pittsburgh
TexasBaylor College of Medicine, Houston
WashingtonSeattle Children's Hospital, Seattle

From ClinicalTrials.gov, data retrieved Oct 1, 2026. Each study sets its own eligibility; the study team decides who can join.