Clinical and Basic Investigations Into Known and Suspected Congenital Disorders of Glycosylation
|The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.|
|ClinicalTrials.gov Identifier: NCT02089789|
Recruitment Status : Recruiting
First Posted : March 18, 2014
Last Update Posted : April 8, 2021
- 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.
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, 9000 Rockville Pike||Recruiting|
|Bethesda, Maryland, United States, 20892|
|Contact: For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR) 800-411-1222 ext TTY8664111010 firstname.lastname@example.org|
|Principal Investigator:||Lynne A Wolfe, C.R.N.P.||National Human Genome Research Institute (NHGRI)|