Clinical and Basic Investigations Into Known and Suspected Congenital Disorders of Glycosylation
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
Age1-80
SponsorNational Human Genome Research Institute (NHGRI)
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, 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
This trial does not accept healthy volunteersQualifiers
None
Disqualifiers
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.
Trial population
Anyone with a congenital disorder of glycosylation
Trial design
Design model
Cohort
Time perspective
Prospective
Treatments tested in this trial
Not listed
Trial groups
200 Participants
are grouped into 1 trial groupGroup A: CDG
Trial outcomes
Primary outcomes
1
Expertise Establishment
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.
Time frame
OngoingSecondary outcomes
1
Secondary
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.
Time frame
OngoingSponsors and contacts
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Source ClinicalTrials.gov