Clinical and Basic Investigations Into Known and Suspected Congenital Disorders of Glycosylation
- Conditions
- Congenital Disorders of Glycosylation
- Registration Number
- NCT02089789
- Lead Sponsor
- National Human Genome Research Institute (NHGRI)
- 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.
- Detailed Description
Study Description:
In this protocol, we propose to characterize the etiology and natural history of known, suspected or secondary CDGs to expand our knowledge about these disorders and provide access to patients of interest for research, teaching, and clinical experience.
Objectives:
The overall aim of this protocol is to advance our knowledge of primary, new, and secondary congenital disorders of glycosylation.
Study Population:
Participants 1 month or older will have been or will be referred to this protocol with a known or suspected CDG though only participants older than 2 years old will be evaluated as inpatients.
Recruitment & Eligibility
- Status
- RECRUITING
- Sex
- All
- Target Recruitment
- 200
Not provided
Not provided
Study & Design
- Study Type
- OBSERVATIONAL
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method Expertise Establishment Ongoing 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.
- Secondary Outcome Measures
Name Time Method Secondary Ongoing To use this protocol to recruit patients for potential future therapeutic studies.-To inspire the initiation of new, treatment-specific protocols.-To allow for collection of data on carrier family members enrolled in this protocol.-To perform standard genetic and non-genetic testing as indicated to identify new CDG s that may yield information about new variant(s) or cell biology.-To provide teaching and research cases for the NHGRI intramural community.
Trial Locations
- Locations (1)
National Institutes of Health Clinical Center
🇺🇸Bethesda, Maryland, United States