Clinical and Basic Investigations Into Congenital Disorders of Glycosylation

Eva Morava-Kozicz, PhD, MD

(504) 444-9386 (504) 444-9386

eva.morava@mssm.edu

Mary Freeman, MS, CGC

212-659-1434 212-659-1434

mary.freeman@mssm.edu

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

Eligibility:

Inclusion Criteria:

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

Exclusion Criteria:

- None

Conditions:

Congenital Disorders of Glycosylation

Clinical and Basic Investigations Into Congenital Disorders of Glycosylation

ID#: NCT04199000

Age: Birth - 66+

Gender: All

Healthy Subjects: No

Recruitment Status: Recruiting

Start Date: October 08, 2019

End Date: July 31, 2030