Clinical and Basic Investigations Into Congenital Disorders of Glycosylation
2 other identifiers
observational
500
1 country
12
Brief Summary
The purpose of this research is to study the natural history of congenital disorders of glycosylation and its causes and treatments.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P75+ for all trials
Started Oct 2019
Longer than P75 for all trials
12 active sites
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
Click on a node to explore related trials.
Study Timeline
Key milestones and dates
Study Start
First participant enrolled
October 8, 2019
CompletedFirst Submitted
Initial submission to the registry
December 8, 2019
CompletedFirst Posted
Study publicly available on registry
December 13, 2019
CompletedPrimary Completion
Last participant's last visit for primary outcome
July 31, 2030
ExpectedStudy Completion
Last participant's last visit for all outcomes
July 31, 2030
August 26, 2025
August 1, 2025
10.8 years
December 8, 2019
August 24, 2025
Conditions
Keywords
Outcome Measures
Primary Outcomes (3)
Indicators of Disease Severity and Progression - organ system involvement
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
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
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
Eligibility Criteria
Individuals with a genetically, enzymatically, or molecularly confirmed diagnosis of a congenital disorder of glycosylation (CDG) or NGLY1 deficiency, or individuals whose laboratory values are highly suggestive of CDG
You may qualify if:
- Individuals with a genetically, enzymatically, or molecularly confirmed diagnosis of CDG or NGLY1 deficiency
You may not qualify if:
- None
Contact the study team to confirm eligibility.
Sponsors & Collaborators
- Icahn School of Medicine at Mount Sinailead
- National Institute of Neurological Disorders and Stroke (NINDS)collaborator
- Seattle Children's Hospitalcollaborator
- Children's Hospital of Philadelphiacollaborator
- University of Pittsburghcollaborator
- Boston Children's Hospitalcollaborator
- Tulane University School of Medicinecollaborator
- Baylor College of Medicinecollaborator
- University of Minnesotacollaborator
- Children's Hospital Coloradocollaborator
- Sanford-Burnham Medical Research Institutecollaborator
- University of Utahcollaborator
- University of Alabama at Birminghamcollaborator
- Mayo Cliniccollaborator
Study Sites (12)
Rady Children's Hospital
San Diego, California, 92123, United States
Children's Hospital of Colorado
Aurora, Colorado, 80045, United States
Mayo Clinic Florida
Jacksonville, Florida, 32224, United States
Tulane University School of Medicine
New Orleans, Louisiana, 70112, United States
Boston Children's Hospital
Boston, Massachusetts, 02115, United States
University of Minnesota
Minneapolis, Minnesota, 55454, United States
Mayo Clinic in Rochester
Rochester, Minnesota, 55905, United States
Icahn School of Medicine at Mount Sinai
New York, New York, 10029, United States
Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, 19146, United States
Children's Hospital of Pittsburgh
Pittsburgh, Pennsylvania, 15224, United States
Baylor College of Medicine
Houston, Texas, 77030, United States
Seattle Children's Hospital
Seattle, Washington, 98105, United States
Related Links
Biospecimen
Stool, urine, and blood can be retained for biomarker testing. DNA may be a part of this testing in the future.
MeSH Terms
Conditions
Condition Hierarchy (Ancestors)
Study Officials
- PRINCIPAL INVESTIGATOR
Eva Morava-Kozicz, MD, PhD
Icahn School of Medicine at Mount Sinai
Central Study Contacts
Study Design
- Study Type
- observational
- Observational Model
- CASE ONLY
- Time Perspective
- OTHER
- Sponsor Type
- OTHER
- Responsible Party
- PRINCIPAL INVESTIGATOR
- PI Title
- Principal Investigator
Study Record Dates
First Submitted
December 8, 2019
First Posted
December 13, 2019
Study Start
October 8, 2019
Primary Completion (Estimated)
July 31, 2030
Study Completion (Estimated)
July 31, 2030
Last Updated
August 26, 2025
Record last verified: 2025-08
Data Sharing
- IPD Sharing
- Will share
- Shared Documents
- STUDY PROTOCOL, ICF
- Time Frame
- Length of study and beyond
De-identified data and samples may be shared with other investigators at the discretion of the PI. Only participants who have consented to sharing data/samples will be included in this portion.