Recruiting

Congenital DisordersClinical and Basic Investigations Into Congenital Disorders of Glycosylation

Sponsor:

Icahn School of Medicine at Mount Sinai

Code:

NCT04199000

Conditions

Congenital Disorders of Glycosylation

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

Study Details

Brief summary:

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 ID

NCT04199000

Start date

Oct 8, 2019

Status verified date

Jul, 2026

Completion date

Jul 31, 2030

Anticipated

Primary completion date

Jul 31, 2030

Anticipated

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

Inclusion Criteria:

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

Exclusion Criteria:

None

Study Design

Enrollment

500 participants

Anticipated

Interventions and Outcome Measures

Primary outcome measure

Indicators of Disease Severity and Progression - organ system involvement [ Time Frame: Length of study, up to 5 years ]
Indicators of Disease Severity and Progression - degree of cognitive disability [ Time Frame: Length of study, up to 5 years ]
Indicators of Disease Severity and Progression - case-fatality [ Time Frame: Length of study, up to 5 years ]

Central Contacts and Locations

Central contacts

Eva Morava-Kozicz, PhD, MD

(504) 444-9386 eva.morava@mssm.edu

Mary Freeman, MS, CGC

212-659-1434 mary.freeman@mssm.edu

Locations

Rady Children's Hospital

Recruiting

San Diego, California, United States, 92123

Contacts

Jennifer Friedman, MD

jrfriedman@rchsd.org

Corrine Blucher

cblucher@rchsd.org

Principal Investigator:

Jennifer Friedman, MD

Children's Hospital of Colorado

Recruiting

Aurora, Colorado, United States, 80045

Contacts

Austin Larson, MD

303-724-3632 Austin.Larson@childrenscolorado.org

Christien Hernandez

720-777-0440 christien.hernandez@childrenscolorado.org

Principal Investigator:

Austin Larson, MD

Mayo Clinic Florida

Recruiting

Jacksonville, Florida, United States, 32224

Contacts

Karthik Muthusamy, MD

Muthusamy.Karthik@mayo.edu

Principal Investigator:

Karthik Muthusamy, MD

Boston Children's Hospital

Recruiting

Boston, Massachusetts, United States, 02115

Contacts

Gerard Berry, MD

617-355-6394 Gerard.Berry@childrens.harvard.edu

Debbie Fu

yu-ting.fu@childrens.harvard.edu

Principal Investigator:

Gerard Berry, MD

University of Minnesota

Recruiting

Minneapolis, Minnesota, United States, 55454

Contacts

Kyriakie Sarafoglou, MD

612-624-5409 saraf010@umn.edu

Natalie Pogorelc

pogor022@umn.edu

Principal Investigator:

Kyriakie Sarfoglou, MD

Mayo Clinic in Rochester

Recruiting

Rochester, Minnesota, United States, 55905

Contacts

Clinical Genomics Research

5072669140 RSTCGRESEARCH@mayo.edu

Principal Investigator:

Queenie Tan, MD, PhD

Icahn School of Medicine at Mount Sinai

Recruiting

New York, New York, United States, 10029

Contacts

Mary Freeman, MS, CGC

212-659-1434 mary.freeman@mssm.edu

Principal Investigator:

Jaya Ganesh, MD

Children's Hospital of Philadelphia

Recruiting

Philadelphia, Pennsylvania, United States, 19146

Contacts

Andrew Edmondson, MD

215-590-3376 EdmondsonA@email.chop.edu

Mehdi Youbi

267-425-1787 youbim@chop.edu

Principal Investigator:

Andrew Edmondson, MD

Children's Hospital of Pittsburgh

Recruiting

Pittsburgh, Pennsylvania, United States, 15224

Contacts

Evgenia Sklirou, MD, FACMG

412-692-5070 SklirouE@chp.edu

Angela Leshinski, MBA, RD, LDN

412-692-5232 angela.leshinski@chp.edu

Principal Investigator:

Gerard Vockley, MD, PhD

Baylor College of Medicine

Recruiting

Houston, Texas, United States, 77030

Contacts

Fernando Scaglia, MD, FACMG

832-822-4280 fscaglia@bcm.edu

May Ali

832-822-1630 maali@bcm.edu

Principal Investigator:

Fernando Scaglia, MD, FACMG

Seattle Children's Hospital

Recruiting

Seattle, Washington, United States, 98105

Contacts

Christina Lam, MD

206-987-3012 Christina.Lam@seattlechildrens.org

Hayden Vruegdenhil

206-884-1264 Hayden.Vruegndenhil@seattlechildrens.org

Principal Investigator:

Christina Lam, MD

More Information

Sponsor

Icahn School of Medicine at Mount Sinai

Last update posted

Jul 21, 2026

Last verified

Jul, 2026

Keywords

CDG
CDDG
Congenital Disorders of Glycosylation
Congenital Disorders of Deglycosylation
ALG1
ALG3
ALG6
ALG12
ALG13
COG6
DPAGT1
DPM1
EDEM3
MAN1B1
MPDU1
MPI
NGLY1
PGAP3
PGM1
PIGA
PIGG
PIGN
PIGS
PIGT
PMM2
SLC35A2
SLC35C1
SLC39A8
SRD5A3
SSR4
FUT8
GALNT2
MAN2B2
VMA21

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-08. This information was provided to ClinicalTrials.gov by Icahn School of Medicine at Mount Sinai on 2026-07-21.