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.
Who is eligible to participate?
Patients diagnosed with congenital disorders of glycosylation based on genetic confirmatory testing.
Who is not eligible to participate?
Patients without congenital disorders of glycosylation.
How to participate
Please contact a clinical site investigator if you are interested in participating in this study.
This data was sourced from ClinicalTrials.gov on 14 October 2022. Modifications include:
- Heading "Detailed Description:" changed to "Summary"
- Heading "Inclusion Criteria:" changed to "Who is eligible to participate?"
- Heading "Exclusion Criteria:" changed to "Who is Not eligible to participate?"
- Excludes Study Design and Outcome Measures sections
Total Enrollment: 186
Baylor College of Medicine
Boston Children's Hospital
Children's Hospital Colorado
Children's Hospital of Philadelphia
3401 Civic Center Boulevard
Philadelphia, Pennsylvania, United States, 19104
Principal Investigator: Andy Edmondson, MD
Principal Investigator: Miao He, PhD
Research Coodinator: Elizabeth McCormick, MS, LCGC
+1 267 426 4961
Children's Hospital of Pittsburgh
4401 Penn Avenue
Pittsburgh, Pennsylvania, United States, 15224
Principal Investigator: Gerard Vockley, MD, PhD
+1 412 692 7746
Sub-Investigator: Evgenia Sklirou, MD, FACMG
+1 412 692 5070
Clinical Research Coordinator: Angela Leshinski, MBA, RD, LDN
+1 412 692 5232
Clinical Research Coordinator: Hina Patel
Mayo Clinic Rochester - Administrative Core
200 Highway Street SW
Rochester, Minnesota, United States, 55901
Principal Investigator: Eva Morava-Kozicz, MD, PhD
+1 507 266 2967
Clinical Research Coordinator: David Kveene
Project Manager: Alyssa (Ali) Eastman
Seattle Children's Hospital
4800 Sand Point Way NE
Seattle, Washington, United States, 98105
Principal Investigator: Christina Lam, MD
+1 206 987 3012
Research Coordinator II: Hayden Vreugdenhil
+1 206 884 1264
Research Coordinator: Seishu Horiskosi
+1 206 987 7701
University of Alabama at Birmingham
1600 7th Avenue South
Birmingham, Alabama, United States, 35233
University of Minnesota Masonic Children's Hospital
2450 Riverside Avenue, East Building, Room MB671
Minneapolis, Minnesota, United States, 55454
Principal Investigator: Kyriakie Sarafoglou, MD
Clinical Research Coodinator: Natalie Pogorelc
+1 612 626 1804