Clinical and Basic Investigations Into Congenital Disorders of Glycosylation
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
AgeNot listed
SponsorIcahn School of Medicine at Mount Sinai
About this trial
The purpose of this research is to study the natural history of congenital disorders of glycosylation and its causes and treatments.
Eligibility criteria
This trial does not accept healthy volunteersQualifiers
Individuals with a genetically, enzymatically, or molecularly confirmed diagnosis of CDG or NGLY1 deficiency
Disqualifiers
None
Trial population
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
Trial design
Design model
Case-only
Time perspective
Other
Treatments tested in this trial
Not listed
Trial groups
No trial groups listed
Trial outcomes
Primary outcomes
1
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.
Time frame
Length of study, up to 5 years2
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.
Time frame
Length of study, up to 5 years3
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.
Time frame
Length of study, up to 5 yearsSponsors and contacts
Click on the lead sponsor to view all of their trials.
Icahn School of Medicine at Mount Sinai
Lead sponsor
National Institute of Neurological Disorders and Stroke (NINDS)
Collaborator
Seattle Children's Hospital
Collaborator
Children's Hospital of Philadelphia
Collaborator
University of Pittsburgh
Collaborator
Boston Children's Hospital
Collaborator
Tulane University School of Medicine
Collaborator
Baylor College of Medicine
Collaborator
University of Minnesota
Collaborator
Children's Hospital Colorado
Collaborator
Sanford-Burnham Medical Research Institute
Collaborator
University of Utah
Collaborator
University of Alabama at Birmingham
Collaborator
Mayo Clinic
Collaborator
Source ClinicalTrials.gov