Research on Congenital Disorders of… (NCT02089789)

At a Glance

Age: 1 Month – 80
Sex: Any
Study type: Observational
Participants needed: 200 (estimated)
Sponsor: National Human Genome Research Institute (NHGRI) · NIH

Who this trial is looking for

This trial is looking for people aged 1 month to 80 years with known or suspected congenital disorders of glycosylation (CDG). Participation involves medical exams, blood tests, and imaging tests to learn more about these conditions.

Are You a Good Fit for This Trial?

You may be able to join if

I am at least 1 month old
I have been diagnosed with a congenital disorder of glycosylation
I am a carrier relative of a patient with CDG
I am medically stable if I am over 2 years old

You may not be able to join if

I am under 1 month old
I am over 2 years old and medically unstable
I am pregnant
I am a newborn

Summarized in plain language from this trial's official eligibility criteria. The full criteria are further down this page — only the research team can confirm whether you qualify.

About This Trial

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, live…

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.

Trial Locations

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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 proban…

Contacts

Lynne A Wolfe, C.R.N.P.

(301) 443-8577

lynne.wolfe@nih.gov

CONTACT

Research on Congenital Disorders of Glycosylation

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