- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT04199000
Clinical and Basic Investigations Into Congenital Disorders of Glycosylation
Study Overview
Status
Conditions
Detailed Description
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.
Study Type
Enrollment (Anticipated)
Contacts and Locations
Study Contact
- Name: Eva Morava-Kozicz, PhD, MD
- Phone Number: 507-266-2967
- Email: morava-kozicz.eva@mayo.edu
Study Contact Backup
- Name: Alexandra Miller
- Phone Number: 507-284-5467
- Email: miller.alexandra@mayo.edu
Study Locations
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Colorado
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Aurora, Colorado, United States, 80045
- Not yet recruiting
- Children's Hospital of Colorado
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Contact:
- Austin Larson, MD
- Phone Number: 303-724-3632
- Email: Austin.Larson@childrenscolorado.org
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Contact:
- Bridget Flanders, BA
- Phone Number: 720-777-4309
- Email: Bridget.Flanders@childrenscolorado.org
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Principal Investigator:
- Austin Larson, MD
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Louisiana
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New Orleans, Louisiana, United States, 70112
- Recruiting
- Tulane University Medical School
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Contact:
- Hans Anderrson, MD
- Phone Number: 504-988-5101
- Email: handers@tulane.edu
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Principal Investigator:
- Hans Anderrson, MD
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Massachusetts
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Boston, Massachusetts, United States, 02115
- Recruiting
- Boston Children's Hospital
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Principal Investigator:
- Gerard Berry, MD
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Contact:
- Gerard Berry, MD
- Phone Number: 617-355-6394
- Email: Gerard.Berry@childrens.harvard.edu
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Contact:
- Danielle Terek
- Phone Number: 617-355-7346
- Email: Danielle.Terek@childrens.harvard.edu
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Minnesota
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Minneapolis, Minnesota, United States, 55454
- Recruiting
- University of Minnesota
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Contact:
- Kyriakie Sarafoglou, MD
- Phone Number: 612-624-5409
- Email: saraf010@umn.edu
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Contact:
- Paige Hill
- Phone Number: 612-624-8672
- Email: hillx615@umn.edu
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Principal Investigator:
- Kyriakie Sarfoglou, MD
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Rochester, Minnesota, United States, 55905
- Recruiting
- Mayo Clinic in Rochester
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Principal Investigator:
- Eva Morava-Kozicz, MD, PhD
-
Contact:
- Alexandra Miller, B.S.
- Phone Number: 507-293-1139
- Email: miller.alexandra@mayo.edu
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Contact:
- Eva Morava-Kozicz, MD, PhD
- Phone Number: 507-266-2967
- Email: Morava-Kozicz.Eva@mayo.edu
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Pennsylvania
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Philadelphia, Pennsylvania, United States, 19146
- Recruiting
- Children's Hospital of Philadelphia
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Contact:
- Andrew Edmondson, MD
- Phone Number: 215-590-3376
- Email: EdmondsonA@email.chop.edu
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Contact:
- Elizabeth McCormick, MS, LCGC
- Phone Number: 267-426-4961
- Email: McCormickE@email.chop.edu
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Principal Investigator:
- Andrew Edmondson, MD
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Principal Investigator:
- Miao He, PhD
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Pittsburgh, Pennsylvania, United States, 15224
- Recruiting
- University of Pittsburgh
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Principal Investigator:
- Gerard Vockley, MD, PhD
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Contact:
- Evgenia Sklirou, MD, FACMG
- Phone Number: 412-692-5070
- Email: SklirouE@chp.edu
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Sub-Investigator:
- Evgenia Sklirou, MD, FACMG
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Contact:
- Angela Leshinski, MBA, RD, LDN
- Phone Number: 412-692-5232
- Email: angela.leshinski@chp.edu
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Texas
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Houston, Texas, United States, 77030
- Recruiting
- Baylor College of Medicine
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Contact:
- Fernando Scaglia, MD, FACMG
- Phone Number: 832-822-4280
- Email: fscaglia@bcm.edu
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Contact:
- May Ali
- Phone Number: 832-822-1630
- Email: maali@bcm.edu
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Principal Investigator:
- Fernando Scaglia, MD, FACMG
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Washington
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Seattle, Washington, United States, 98105
- Recruiting
- Seattle Children's Hospital
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Principal Investigator:
- Christina Lam, MD
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Contact:
- Christina Lam, MD
- Phone Number: 206-987-3012
- Email: Christina.Lam@seattlechildrens.org
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Contact:
- Hayden Vruegdenhil
- Phone Number: 206-884-1264
- Email: Hayden.Vruegndenhil@seattlechildrens.org
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Participation Criteria
Eligibility Criteria
Ages Eligible for Study
- Child
- Adult
- Older Adult
Accepts Healthy Volunteers
Sampling Method
Study Population
Description
Inclusion Criteria:
- Patients diagnosed with congenital disorders of glycosylation based on genetic confirmatory testing
Exclusion Criteria:
- Patients without congenital disorders of glycosylation
Study Plan
How is the study designed?
Design Details
- Observational Models: Case-Only
- Time Perspectives: Other
What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
Indicators of Disease Severity and Progression - organ system involvement
Time Frame: Length of study, up to 5 years
|
Establish the prevalence and severity of specific morbid indicators of disease severity through use of the Nijmegen Progression CDG rating scale.
|
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
|
Establish the prevalence and severity of specific morbid indicators of disease severity through use of the Nijmegen Progression CDG rating scale.
|
Length of study, up to 5 years
|
Indicators of Disease Severity and Progression - case-fatality
Time Frame: Length of study, up to 5 years
|
Establish the prevalence and severity of specific morbid indicators of disease severity through use of the Nijmegen Progression CDG rating scale.
|
Length of study, up to 5 years
|
Collaborators and Investigators
Sponsor
Collaborators
Investigators
- Principal Investigator: Eva Morava-Kozicz, MD, PhD, Mayo Clinic
Publications and helpful links
Study record dates
Study Major Dates
Study Start (Actual)
Primary Completion (Anticipated)
Study Completion (Anticipated)
Study Registration Dates
First Submitted
First Submitted That Met QC Criteria
First Posted (Actual)
Study Record Updates
Last Update Posted (Actual)
Last Update Submitted That Met QC Criteria
Last Verified
More Information
Terms related to this study
Keywords
Additional Relevant MeSH Terms
Other Study ID Numbers
- 19-005187
- U54NS115198-01 (U.S. NIH Grant/Contract)
Plan for Individual participant data (IPD)
Plan to Share Individual Participant Data (IPD)?
IPD Plan Description
IPD Sharing Time Frame
IPD Sharing Supporting Information Type
- STUDY_PROTOCOL
- ICF
Drug and device information, study documents
Studies a U.S. FDA-regulated drug product
Studies a U.S. FDA-regulated device product
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.
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