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, BA+1 720 777 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
Mayo Clinic Rochester - Administrative Core
200 Highway Street SW
Rochester, Minnesota, United States, 55901
https://www.mayoclinic.org/
Contact:
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
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