NCT02089789 Clinical and Basic Investigations Into Known and Suspected Congenital Disorders of Glycosylation
| NCT ID | NCT02089789 |
| Status | Recruiting |
| Phase | — |
| Sponsor | National Human Genome Research Institute (NHGRI) |
| Condition | Congenital Disorders of Glycosylation |
| Study Type | OBSERVATIONAL |
| Enrollment | 200 participants |
| Start Date | 2014-03-07 |
| Primary Completion | 2030-12-01 |
Eligibility & Interventions
Eligibility Fast-Check
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What to Expect as a Participant
This is an observational study. You will not receive an experimental treatment; researchers will collect data based on your existing condition or standard treatment.
This trial targets 200 participants in total. It began in 2014-03-07 with a primary completion date of 2030-12-01.
⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.
Brief Summary
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.
Eligibility Criteria
* 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.
Contact & Investigator
Lynne A Wolfe, C.R.N.P.
PRINCIPAL INVESTIGATOR
National Human Genome Research Institute (NHGRI)
Frequently Asked Questions
Who can join the NCT02089789 clinical trial?
This trial is open to participants of all sexes, aged 1 Month or older, up to 80 Years, studying Congenital Disorders of Glycosylation. Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.
Is NCT02089789 currently recruiting?
Yes, NCT02089789 is actively recruiting participants. Contact the research team at lynne.wolfe@nih.gov for enrollment information.
Where is the NCT02089789 trial being conducted?
This trial is being conducted at Bethesda, United States.
Who is sponsoring the NCT02089789 clinical trial?
NCT02089789 is sponsored by National Human Genome Research Institute (NHGRI). The principal investigator is Lynne A Wolfe, C.R.N.P. at National Human Genome Research Institute (NHGRI). The trial plans to enroll 200 participants.