Clinical Trial: Clinical and Basic Investigations Into Known and Suspected Congenital Disorders of Glycosylation

Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational



Official Title: Clinical and Basic Investigations Into Known and Suspected Congenital Disorders of Glycosylation

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 age 1-80 with CDG or suspected to have a CDG.

Design:

  • 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