Access cutting-edge congenital disorders of glycosylation treatment through this clinical trial at a research site in Bethesda. Study-provided care at no cost to qualified participants.
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Access congenital disorders of glycosylation specialists at no cost
This study follows strict safety protocols and ethical guidelines
All study-related congenital disorders of glycosylation treatment provided free
Check if you qualify for this congenital disorders of glycosylation clinical trial in Bethesda, MD
No-Cost Study Care
Local to Bethesda
Convenient for MD residents
Cutting-Edge Treatment
Access to innovative therapies
Expert Medical Care
Close monitoring by specialists
Possible Compensation*
For time and travel
*Compensation varies by study. Confirm details with coordinator.
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.
Sponsor: National Human Genome Research Institute (NHGRI)
Yes, this clinical trial (NCT02089789) has an active research site in Bethesda, MD that is currently enrolling participants.
Clinical trials follow strict safety guidelines and ethical standards. This study has been reviewed and approved, and participants are closely monitored by medical professionals. You can withdraw at any time.
Many clinical trials offer compensation for your time and travel expenses. Specific compensation details will be discussed during the screening process. All study-related medical care is provided at no cost.
Absolutely. Participation is completely voluntary. You have the right to withdraw from the study at any time, for any reason, without penalty.
If you're searching for congenital disorders of glycosylation treatment options in Bethesda, MD, this clinical trial (NCT02089789) may be an excellent opportunity. Clinical trials provide access to cutting-edge treatments that aren't yet available to the general public, often at no cost to participants.
Our Bethesda research site is actively enrolling participants for this clinical trial. You'll receive care from experienced congenital disorders of glycosylation specialists who are at the forefront of medical research. All study-related care, including examinations, treatments, and monitoring, is provided at no cost to qualified participants.