Clinical and Basic Investigations Into Congenital Disorders of Glycosylation
Icahn School of Medicine at Mount Sinai
Summary
The purpose of this research is to study the natural history of congenital disorders of glycosylation and its causes and treatments.
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. Par…
Eligibility
- Age range
- Not specified
- Sex
- All
- Healthy volunteers
- No
Inclusion Criteria: * Individuals with a genetically, enzymatically, or molecularly confirmed diagnosis of CDG or NGLY1 deficiency Exclusion Criteria: * None
Locations (12)
- Rady Children's HospitalSan Diego, California
- Children's Hospital of ColoradoAurora, Colorado
- Mayo Clinic FloridaJacksonville, Florida
- Tulane University School of MedicineNew Orleans, Louisiana
- Boston Children's HospitalBoston, Massachusetts
- University of MinnesotaMinneapolis, Minnesota