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NCT02089789 · ClinicalTrials.gov registry record
Clinical and Basic Investigations Into Known and Suspected Congenital Disorders of Glycosylation
A clinical trial of Congenital Disorders of Glycosylation, sponsored by National Human Genome Research Institute (NHGRI).
- Recruiting
- Registry status
- 200
- Enrollment target
- 1
- Study location
NCT02089789: Recruiting study of Congenital Disorders of Glycosylation, sponsored by National Human Genome Research Institute (NHGRI).
NCT02089789 is a study of Congenital Disorders of Glycosylation that is actively recruiting participants, run by National Human Genome Research Institute (NHGRI). The registered enrollment target is 200 participants. The trial reports 1 study location across 1 state. According to ClinicalTrials.gov, the official US trial registry.
The verdict
NCT02089789, a study of Congenital Disorders of Glycosylation, is actively recruiting participants, sponsored by National Human Genome Research Institute (NHGRI).
- RECRUITING
- Registry status
- 200 participants
- Enrollment target
- 1
- Study location
Study 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 m
Primary Outcome
DescriptionTo employ consultations, physical examinations, and medical and genetic histories to establish expertise in these disorders appropriate to advise patients and physicians concerning diagnosis, prognosis, and therapy of CDGs.
Conditions Studied
Study Locations (1)
Maryland
- National Institutes of Health Clinical Center - Bethesda
Trial Details
| Field | Value |
|---|---|
| Enrollment Target | 200 participants |
| Start Date | 2014-03-07 |
| Est. Completion | 2030-12-01 |
What NCT02089789 shows while recruiting
NCT02089789 is an observational study that tracks outcomes without assigning an intervention. The registered 200 participants enrollment target is mid-sized for trials with a published cap.
The record links to 1 condition, with Congenital Disorders of Glycosylation appearing as the primary indexed condition, and to 0 interventions.
NCT02089789 reports a single indexed study location in Maryland.
Frequently Asked Questions
What is clinical trial NCT02089789 about?
NCT02089789 is a clinical study titled "Clinical and Basic Investigations Into Known and Suspected Congenital Disorders of Glycosylation". 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...
What is the current status of trial NCT02089789?
This trial is currently recruiting. The enrollment target is 200 participants. The study started on 2014-03-07. Estimated completion is 2030-12-01.
What conditions does trial NCT02089789 study?
This clinical trial studies the following conditions: Congenital Disorders of Glycosylation.
Who is sponsoring clinical trial NCT02089789?
This trial is sponsored by National Human Genome Research Institute (NHGRI), which has 185 total clinical trials registered on ClinicalTrials.gov.
Where is trial NCT02089789 being conducted?
This trial has 1 study location across Maryland. Contact the study sites directly through ClinicalTrials.gov for enrollment availability.
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