Clinical and Basic Investigations Into Congenital Disorders of Glycosylation

Recruiting Observational Study
Congenital Disorders of Glycosylation
No Study Drug Researchers observe your health over time — no experimental treatment is given.
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At a Glance
Sex
Any
Study type
Observational
Participants needed
500 (estimated)
Sponsor
Icahn School of Medicine at Mount Sinai · Other
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About This Trial

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

Trial Locations
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Eligibility Criteria
Inclusion Criteria: * Individuals with a genetically, enzymatically, or molecularly confirmed diagnosis of CDG or NGLY1 deficiency Exclusion Criteria: * None
Contacts

Eva Morava-Kozicz, PhD, MD

(504) 444-9386

eva.morava@mssm.edu

CONTACT

Mary Freeman, MS, CGC

212-659-1434

mary.freeman@mssm.edu

CONTACT