Clinical and Basic Investigations Into Known and Suspected Congenital Disorders of Glycosylation
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|ClinicalTrials.gov Identifier: NCT02089789|
Recruitment Status : Recruiting
First Posted : March 18, 2014
Last Update Posted : May 26, 2023
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- 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.
- To learn more about CDGs.
- People age 1-80 with CDG or suspected to have a CDG.
- CDG participants will stay in the hospital 3-5 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.
|Condition or disease|
|Congenital Disorders of Glycosylation|
|Study Type :||Observational|
|Estimated Enrollment :||150 participants|
|Official Title:||Clinical and Basic Investigations Into Known and Suspected Congenital Disorders of Glycosylation|
|Actual Study Start Date :||March 7, 2014|
|Estimated Primary Completion Date :||December 1, 2023|
|Estimated Study Completion Date :||December 1, 2023|
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
- To perform molecular analysis to determine the molecular defects in the known CDG genes, search for new CDG-causing genes, and collect samples to create a library of biologic specimens from subjects with these disorders for related research. [ Time Frame: Ongoing ]To perform molecular analysis to determine the molecular defects in the known CDG genes, search for new CDG-causing genes, and collect samples to create a library of biologic specimens from subjects with these disorders for related research.
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|Ages Eligible for Study:||1 Year to 80 Years (Child, Adult, Older Adult)|
|Sexes Eligible for Study:||All|
|Accepts Healthy Volunteers:||No|
|Sampling Method:||Non-Probability Sample|
- INCLUSION/EXCLUSION CRITERIA:
Patients of any gender and ethnicity age 180 years 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. Patients will also be excluded if they cannot travel to the NIH due to their medical condition. Infants under age one year or under 10 kg of body weight are excluded because care is more readily provided to older infants at the Clinical Center.
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02089789
|Contact: Lynne A Wolfe, C.R.N.P.||(301) email@example.com|
|United States, Maryland|
|National Institutes of Health Clinical Center||Recruiting|
|Bethesda, Maryland, United States, 20892|
|Principal Investigator:||Lynne A Wolfe, C.R.N.P.||National Human Genome Research Institute (NHGRI)|
|Responsible Party:||National Human Genome Research Institute (NHGRI)|
|Other Study ID Numbers:||
|First Posted:||March 18, 2014 Key Record Dates|
|Last Update Posted:||May 26, 2023|
|Last Verified:||December 14, 2022|
|Individual Participant Data (IPD) Sharing Statement:|
|Plan to Share IPD:||Undecided|
|Studies a U.S. FDA-regulated Drug Product:||No|
|Studies a U.S. FDA-regulated Device Product:||No|
Congenital Disorders of Glycosylation
Carbohydrate Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn