Ignite Creation Date:
2024-05-06 @ 2:36 AM
Last Modification Date:
2024-10-26 @ 11:21 AM
Study NCT ID:
NCT02089789
Status:
RECRUITING
Last Update Posted:
2024-07-03
First Post:
2014-03-14
Brief Title:
Clinical and Basic Investigations Into Known and Suspected Congenital Disorders of Glycosylation
Sponsor:
National Human Genome Research Institute NHGRI
Organization:
National Institutes of Health Clinical Center CC
Study Overview
Official Title:
Clinical and Basic Investigations Into Known and Suspected Congenital Disorders of Glycosylation
Status:
RECRUITING
Status Verified Date:
2024-04-16
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
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
Handwrist 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
- 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
Handwrist 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:
Congenital disorders of glycosylation CDGs are a group of diseases characterized by an abnormal glycosylation of proteins but that can also result from an abnormal synthesis of glycosaminoglycans glycophospholipids or glycosylphosphatidylinositol or the abnormal synthesis or utilization of dolichols CDGs were first described in 1980 but the initial description of mutations in a gene underlying CDGs did not occur until 1997 Since then there has been a rapid discovery phase of new CDGs with more than 80 different types reflecting defined mutations in 80 different genes in glycobiologic pathways affecting about 1000 patients worldwide The clinical manifestations of CDGs are quite variable both within and among different types and physicians from every specialty will likely encounter patients affected by glycosylation defects The diagnosis of CDGs should be suspected in cases with neurological signs and symptoms of unknown etiology or in any patient with multisystemic disease even in the absence of neurological features Other potential clinical presentations include tissuespecific disorders such as anemia or ichthyosis when common disorders have been ruled out Diagnostic screening for many of the disorders is performed by analyzing the glycosylation on serum transferrin initially by isoelectric focusing now by mass spectrometry in specialized clinical diagnostic laboratories both in the United States and abroad The pattern of transferring glycoforms allows the differentiation between defects of Nglycosylation assembly in the ER type I and defects of Nglycan trimming and elongation occurring mainly in the Golgi apparatus type II Most recently wholeexome sequencing has led to the elucidation of the underlying mutation in patients with unknown CDGs Treatment is available for only three CDG subtypes In this protocol we propose to clinically evaluate up to 100 patients of all ethnicities with known or suspected CDGs obtain cells plasma and urine for future studies perform mutation analysis for known CDGcausing genes and search for other genes responsible for CDGs Routine admissions of 3-5 days will occur annually or as required by changes in clinical symptomatology
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None
Secondary IDs
| Secondary ID | Type | Domain | Link |
|---|---|---|---|
| 14-HG-0071 | None | None | None |