Actively Recruiting
Clinical and Basic Investigations Into Known and Suspected Congenital Disorders of Glycosylation
Led by National Human Genome Research Institute (NHGRI) · Updated on 2026-04-07
200
Participants Needed
1
Research Sites
873 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
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: * CDG participants may be seen as inpatients, outpatients or by teleheath. Inpatient stays may last 2-5 days. * They will have:-Medical history and physical exam. They will answer questions about their CDG. * Blood taken several times. Their skin will be numbed, then a needle will take blood from an arm vein. * Samples taken of their skin, urine, and maybe stool and spinal fluid. * Photos taken of their whole body. They can wear underwear and cover their eyes. * Brain MRI. They will lie on a table that slides in and out of a metal cylinder. The scanner makes loud knocking noises so they can wear earplugs. * Abdomen ultrasound. Sound waves take images of the body from the outside. * Hand/wrist X-rays for young patients. They may have a full-body X-ray. * DEXA bone density scan. Participants will lie on a table under a scanner. * Echocardiogram and electrocardiogram for heart activity. Pads are stuck on the skin and the electrical activity of the heart is recorded. * Tests of hearing, thinking, motor skills, and speech. * Children participants may have tests done under sedation if it will benefit them directly. * CDG participants may have other procedures during their visit. They may have follow-up visits every year.
CONDITIONS
Official Title
Clinical and Basic Investigations Into Known and Suspected Congenital Disorders of Glycosylation
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Participants 1 month or older with a known or suspected congenital disorder of glycosylation (CDG) may participate.
- Participants over 2 years old must be medically stable and require admission for diagnosis if admitted as inpatients.
- One or more probands and carrier family members may be admitted to the NIH Clinical Center for investigation.
- Participants may be seen as inpatients, outpatients, or via telehealth.
- Some biological samples may be collected remotely and sent to the research lab.
You will not qualify if you...
- Participants under 1 month of age will not be seen at the NIH Clinical Center.
- Participants over 2 years of age who are medically unstable and do not require admission for diagnosis will not be admitted.
- Pregnant women and newborn infants are excluded from the study.
AI-Screening
AI-Powered Screening
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Trial Site Locations
Total: 1 location
1
National Institutes of Health Clinical Center
Bethesda, Maryland, United States, 20892
Actively Recruiting
Research Team
L
Lynne A Wolfe, C.R.N.P.
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
1
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