Summary
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
Participating Sites
Baylor College of Medicine
1 Baylor Plaza
Houston, Texas, United States, 77030
https://www.bcm.edu/
Contact:
Principal Investigator:
Fernando
Scaglia,
MD, FACMG
1-832-822-4280
Research Coordinator: May Ali, Research Coordinator
1-832-822-1630
Boston Children's Hospital
300 Longwood Avenue
Boston, Massachusetts, United States, 02115
https://www.childrenshospital.org/
Contact:
Principal Investigator:
Gerard
Berry,
MD
1-617-355-4316
gerard.berry@childrens.harvard.edu
Clinical Research Associate: Danielle Terek
1-617-355-7346
Children's Hospital Colorado
860 North Potomac Circle
Aurora, Colorado, United States, 80011
https://www.childrenscolorado.org/
Contact:
Principal Investigator:
Austin
Larson,
MD
1-720-777-1234
austin.larson@childrenscolorado.org
Bridget Flanders, BA1-720-777-4309
Children's Hospital of Philadelphia
3401 Civic Center Boulevard
Philadelphia, Pennsylvania, United States, 19104
https://www.chop.edu/centers-programs/congenital-disorders-glycosylation-cdg-clinic
Contact:
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
https://www.chp.edu/
Contact:
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
Icahn School of Medicine at Mount Sinai - Administrative Core
1 Gustave L. Levy Place
New York, New York, United States, 10029
https://icahn.mssm.edu/
Mayo Clinic Rochester
200 Highway Street SW
Rochester, Minnesota, United States, 55901
https://www.mayoclinic.org/
Contact:
Clinical Research Coordinator:
David
Kveene
Project Manager: Alyssa (Ali) Eastman
Seattle Children's Hospital
4800 Sand Point Way NE
Seattle, Washington, United States, 98105
https://www.seattlechildrens.org/
Contact:
Principal Investigator:
Christina
Lam,
MD
1-206-987-3012
christina.lam@seattlechildrens.org
Research Coordinator II: Hayden Vreugdenhil
1-206-884-1264
hayden.vreugdenhil@seattlechildrens.org
Research Coordinator: Seishu Horiskosi
1-206-987-7701
Tulane University
6823 Street Charles Avenue
New Orleans, Louisiana, United States, 70118
https://tulane.edu/
Contact:
Principal Investigator:
Hans
Anderson,
MD
1-504-988-5101
Clinical Research Coordinator III: Wesal Abualkhair
1-504-988-6200
University of Alabama at Birmingham
1600 7th Avenue South
Birmingham, Alabama, United States, 35233
https://www.uab.edu/home/
University of Minnesota Masonic Children's Hospital
2450 Riverside Avenue, East Building, Room MB671
Minneapolis, Minnesota, United States, 55454
https://www.mhealthfairview.org/locations/M-Health-Fairview-University-of-Minnesota-Medical-Center---West-Bank-east
Contact:
Principal Investigator:
Kyriakie
Sarafoglou,
MD
Clinical Research Coodinator: Natalie Pogorelc
1-612-626-1804