An observational study in Congenital Disorders of Glycosylation, sponsored by National Human Genome Research Institute (NHGRI). Recruiting at 1 site in United States. Open to participants aged 1 Month to 80 Years. Per ClinicalTrials.gov, last updated 2026-11-09.
Sponsored by National Human Genome Research Institute (NHGRI) · Observational
Background:
- Proteins, fats, and other molecules are the body s building blocks. Many of these molecules must have sugars, or chains of sugars, attached to work properly. People with congenital disorders of glycosylation (CDGs) cannot attach these sugars or sugar chains properly. A child or adult with a CDG can have symptoms in different parts of the body, including brain, nerves, muscles, liver, and immune system. Researchers want to learn more about these diseases to understand better what is causing the problems.
Objective:
- To learn more about CDGs.
Eligibility:
- People 1 month to 2 years old may be seen as outpatients or by telehealth. Patients 2-80 years with CDG or suspected to have a CDG may be seen under this protocol as inpatients, outpatients or by teleheath.
Design:
Study Description:
In this protocol, we propose to characterize the etiology and natural history of known, suspected or secondary CDGs to expand our knowledge about these disorders and provide access to patients of interest for research, teaching, and clinical experience.
Objectives:
The overall aim of this protocol is to advance our knowledge of primary, new, and secondary congenital disorders of glycosylation.
955 studies on the registry are indexed under Thrombosis; 171 are open to participants now.
This study's planned enrollment of 200 is above the median of 173 across 384 observational studies indexed under Thrombosis.
Browse Thrombosis studies →National Human Genome Research Institute (NHGRI) is the lead sponsor of 203 studies on the registry; 33 are open to participants now.
Counted across the registry records on this site, refreshed daily.
The criteria were revised on the registry on Oct 1, 2026. See what changed
Anyone with a congenital disorder of glycosylation
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
Participants 1 month or older will have been or will be referred to this protocol with a known or suspected CDG. Participants over two years of age will be admitted only if they are medically stable and require admission to the Clinical Center for diagnosis. One or more probands may be admitted to the NIH Clinical Center for investigation as well as carrier family members.
Some participants will be relatives of patients with known CDG's, and their specimens will be obtained for the purpose of heterozygote testing and to serve as controls to help diagnose the proband. Participants may be seen as inpatients, outpatients or via Telehealth. In some cases, biologic samples may be obtained remotely and sent to the Gahl lab.
EXCLUSION CRITERIA:
Patients with a suspected CDG based on biochemical tests or a confirmed CDG based on enzymatic or molecular tests will be eligible to enroll in this protocol
Expertise Establishment
DescriptionTo employ consultations, physical examinations, and medical and genetic histories to establish expertise in these disorders appropriate to advise patients and physicians concerning diagnosis, prognosis, and therapy of CDGs.
Time frame: Ongoing
Secondary
To use this protocol to recruit patients for potential future therapeutic studies.-To inspire the initiation of new, treatment-specific protocols.-To allow for collection of data on carrier family members enrolled in this protocol.-To perform standard genetic and non-genetic testing as indicated to identify new CDG s that may yield information about new variant(s) or cell biology.-To provide teaching and research cases for the NHGRI intramural community.
Time frame: Ongoing
Plan to share: Undecided — pending
From the registry record's own update history. This site started tracking changes on Sep 25, 2026; for anything earlier, see the record history on ClinicalTrials.gov ↗
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