Clinical and Basic Investigations Into Congenital Disorders of Glycosylation
Trial Snapshot
- Phase
- Not Applicable
- Status
- Recruiting
- Enrollment
- 500
- Locations
- 23
- Primary Endpoint
- Indicators of Disease Severity and Progression - degree of cognitive disability
Study Overview
Brief Summary
The purpose of this research is to study the natural history of congenital disorders of glycosylation and its causes and treatments.
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 Design
- Study Type
- Observational
- Observational Model
- Case Only
- Time Perspective
- Other
Eligibility Criteria
- Sex
- All
- Accepts Healthy Volunteers
- No
Inclusion Criteria
- •Individuals with a genetically, enzymatically, or molecularly confirmed diagnosis of CDG or NGLY1 deficiency
Exclusion Criteria
- Not provided
Outcomes
Primary Outcomes
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.
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.
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.
Secondary Outcomes
No secondary outcomes reported
Investigators
Eva Morava-Kozicz
Principal Investigator
Icahn School of Medicine at Mount Sinai