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Clinical and Basic Investigations Into Known and Suspected Congenital Disorders of Glycosylation

Recruitingn/aAges 1 Month - 80 YearsAllNational Human Genome Research Institute (NHGRI)
NCT02089789 on ClinicalTrials.gov ↗
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In plain words

What the trial is, and whether it could suit you

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 las

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📋 Eligibility rules (as published)
* INCLUSION CRITERIA: 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: * Participants under 1 month of age will not be seen at the NIH Clinical center because care is more readily proffered to older individuals at the Clinical Center. * Participants over two years of age will not be admitted if they are medically unstable and do not require admission to the Clinical Center for diagnosis. * Pregnant women and newborns are excluded.
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What it tests

  • Not listed
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Where

1 site
National Institutes of Health Clinical Center
Bethesda, United States
🤝 Taking part is your choice, and you can leave at any time. Only the trial team can confirm you are eligible — always decide together with your own doctor.
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