Clinical and Basic Investigations Into Congenital Disorders of Glycosylation
- Conditions
- Congenital Disorders of Glycosylation
- Registration Number
- NCT04199000
- Lead Sponsor
- Icahn School of Medicine at Mount Sinai
- 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.
Recruitment & Eligibility
- Status
- RECRUITING
- Sex
- All
- Target Recruitment
- 500
- Individuals with a genetically, enzymatically, or molecularly confirmed diagnosis of CDG or NGLY1 deficiency
- None
Study & Design
- Study Type
- OBSERVATIONAL
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method Indicators of Disease Severity and Progression - degree of cognitive disability 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 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 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 Outcome Measures
Name Time Method
Trial Locations
- Locations (12)
Seattle Children's Hospital
🇺🇸Seattle, Washington, United States
Rady Children's Hospital
🇺🇸San Diego, California, United States
Boston Children's Hospital
🇺🇸Boston, Massachusetts, United States
Icahn School of Medicine at Mount Sinai
🇺🇸New York, New York, United States
Children's Hospital of Colorado
🇺🇸Aurora, Colorado, United States
Baylor College of Medicine
🇺🇸Houston, Texas, United States
Mayo Clinic in Rochester
🇺🇸Rochester, Minnesota, United States
Tulane University School of Medicine
🇺🇸New Orleans, Louisiana, United States
Children's Hospital of Pittsburgh
🇺🇸Pittsburgh, Pennsylvania, United States
University of Minnesota
🇺🇸Minneapolis, Minnesota, United States
Mayo Clinic Florida
🇺🇸Jacksonville, Florida, United States
Children's Hospital of Philadelphia
🇺🇸Philadelphia, Pennsylvania, United States