Clinical and Basic Investigations Into Congenital Disorders of Glycosylation

NCT ID: NCT04199000

Last Updated: 2025-08-26

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Total Enrollment

500 participants

Study Classification

OBSERVATIONAL

Study Start Date

2019-10-08

Study Completion Date

2030-07-31

Brief Summary

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

Detailed Description

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The investigators are conducting a natural history study of patients with congenital disorders of glycosylation (CDG). The study will look into the progression of the disease amongst the participants and also look at the clinical symptoms and how they vary amongst different diseased population groups. The participants will be asked to fill out questionnaires either on their own or with a provider that will grade the severity of disease and document symptoms and diet. Participants will have an opportunity to submit blood, urine, and stool samples that will be tested for biomarkers for CDG.

Participants will also complete dietary food records, physical exams, CDG scores, and the PROMIS questionnaires to assess disease progression and severity.

Conditions

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Congenital Disorders of Glycosylation

Study Design

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Observational Model Type

CASE_ONLY

Study Time Perspective

OTHER

Eligibility Criteria

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Inclusion Criteria

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

Exclusion Criteria

* None
Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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National Institute of Neurological Disorders and Stroke (NINDS)

NIH

Sponsor Role collaborator

Seattle Children's Hospital

OTHER

Sponsor Role collaborator

Children's Hospital of Philadelphia

OTHER

Sponsor Role collaborator

University of Pittsburgh

OTHER

Sponsor Role collaborator

Boston Children's Hospital

OTHER

Sponsor Role collaborator

Tulane University School of Medicine

OTHER

Sponsor Role collaborator

Baylor College of Medicine

OTHER

Sponsor Role collaborator

University of Minnesota

OTHER

Sponsor Role collaborator

Children's Hospital Colorado

OTHER

Sponsor Role collaborator

Sanford-Burnham Medical Research Institute

OTHER

Sponsor Role collaborator

University of Utah

OTHER

Sponsor Role collaborator

University of Alabama at Birmingham

OTHER

Sponsor Role collaborator

Mayo Clinic

OTHER

Sponsor Role collaborator

Icahn School of Medicine at Mount Sinai

OTHER

Sponsor Role lead

Responsible Party

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Eva Morava-Kozicz

Principal Investigator

Responsibility Role PRINCIPAL_INVESTIGATOR

Principal Investigators

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Eva Morava-Kozicz, MD, PhD

Role: PRINCIPAL_INVESTIGATOR

Icahn School of Medicine at Mount Sinai

Locations

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Rady Children's Hospital

San Diego, California, United States

Site Status RECRUITING

Children's Hospital of Colorado

Aurora, Colorado, United States

Site Status RECRUITING

Mayo Clinic Florida

Jacksonville, Florida, United States

Site Status RECRUITING

Tulane University School of Medicine

New Orleans, Louisiana, United States

Site Status NOT_YET_RECRUITING

Boston Children's Hospital

Boston, Massachusetts, United States

Site Status RECRUITING

University of Minnesota

Minneapolis, Minnesota, United States

Site Status RECRUITING

Mayo Clinic in Rochester

Rochester, Minnesota, United States

Site Status RECRUITING

Icahn School of Medicine at Mount Sinai

New York, New York, United States

Site Status RECRUITING

Children's Hospital of Philadelphia

Philadelphia, Pennsylvania, United States

Site Status RECRUITING

Children's Hospital of Pittsburgh

Pittsburgh, Pennsylvania, United States

Site Status RECRUITING

Baylor College of Medicine

Houston, Texas, United States

Site Status RECRUITING

Seattle Children's Hospital

Seattle, Washington, United States

Site Status RECRUITING

Countries

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United States

Central Contacts

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Eva Morava-Kozicz, PhD, MD

Role: CONTACT

(504) 444-9386

Mary Freeman, MS, CGC

Role: CONTACT

212-659-1434

Facility Contacts

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Jennifer Friedman, MD

Role: primary

Corrine Blucher

Role: backup

Austin Larson, MD

Role: primary

303-724-3632

Christien Hernandez

Role: backup

720-777-0440

Karthik Muthusamy, MD

Role: primary

Hans Anderrson, MD

Role: primary

504-988-5101

Gerard Berry, MD

Role: primary

617-355-6394

Debbie Fu

Role: backup

Kyriakie Sarafoglou, MD

Role: primary

612-624-5409

Natalie Pogorelc

Role: backup

Bryce Kuschel, MS

Role: primary

507-266-9140

Mary Freeman, MS, CGC

Role: primary

212-659-1434

Andrew Edmondson, MD

Role: primary

215-590-3376

Mehdi Youbi

Role: backup

267-425-1787

Evgenia Sklirou, MD, FACMG

Role: primary

412-692-5070

Angela Leshinski, MBA, RD, LDN

Role: backup

412-692-5232

Fernando Scaglia, MD, FACMG

Role: primary

832-822-4280

May Ali

Role: backup

832-822-1630

Christina Lam, MD

Role: primary

206-987-3012

Hayden Vruegdenhil

Role: backup

206-884-1264

Related Links

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https://www.rarediseasesnetwork.org/fcdgc

Frontiers in Congenital Disorders of Glycosylation (FCDGC)

Other Identifiers

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U54NS115198-01

Identifier Type: NIH

Identifier Source: secondary_id

View Link

Mayo 19-005187

Identifier Type: -

Identifier Source: org_study_id

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