Clinical and Basic Investigations Into Congenital Disorders of Glycosylation
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- This is an observational study: the protocol does not assign a study treatment.
- Who it may be relevant to
- Registry conditions: Congenital Disorders of Glycosylation. Basic parameters: No limits · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- United States
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
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Overview
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.
Primary outcome measures
- Indicators of Disease Severity and Progression - organ system involvement [Time frame: Length of study, up to 5 years]
- Indicators of Disease Severity and Progression - degree of cognitive disability [Time frame: Length of study, up to 5 years]
- Indicators of Disease Severity and Progression - case-fatality [Time frame: Length of study, up to 5 years]
Eligibility criteria
Inclusion criteria
- Individuals with a genetically, enzymatically, or molecularly confirmed diagnosis of CDG or NGLY1 deficiency
Exclusion criteria
- None
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Case-only
Study locations
United States · 12 centers
- Rady Children's Hospital — San Diego
- Children's Hospital of Colorado — Aurora
- Mayo Clinic Florida — Jacksonville
- Tulane University School of Medicine — New Orleans
- Boston Children's Hospital — Boston
- University of Minnesota — Minneapolis
- Mayo Clinic in Rochester — Rochester
- Icahn School of Medicine at Mount Sinai — New York
- … and 4 more centers
Identifiers
NCT: NCT04199000 · Mayo 19-005187 · U54NS115198-01