Immunologic Effects of Supplemental Monosaccharide and Nucleoside Derivatives in Patients With Inherited Disorders of Glycosylation

Summary

Background: \- A congenital disorder of glycosylation (CDG) affects the cells that make up the organs and tissues. In these cells, sugar molecules do not properly attach to other molecules, which are the basic building blocks of cells. Changes in sugars seen in people with CDGs may lead to allergies and can change people s ability to fight infections. Researchers want to see if a sugar supplement called N-acetylglucosamine can help people with CDGs who have detectable changes in their immune systems. Objective: \- To see if N-acetylglucosamine can help cells to function in a healthy way in people with CDGs. Eligibility: \- People at least 2 years of age who have a CDG and immune system changes. Design: * Participants will be screened with a physical exam, medical history, and blood tests. * One month later, participants will repeat the blood tests from the screening visit. Blood will be drawn on 2 different days in the same week. * Participants will get N-acetylglucosamine supplements and instructions for how to take them. N-acetylglucosamine is a powder that can be added to food or drink. * Participants will have a physical exam and blood tests every month during the study. * After taking N-acetylglucosamine for about 4 months, participants will have more blood tests. They will get more N-acetylglucosamine supplements and a nucleoside supplement. The second supplement may be a powder or tablets that may be crushed and added to food. Participants will take both supplements for 5 months. * After about 10 months in the study, participants will have 2 more visits in the same week for the same blood tests.

Timeline

Start

2015-06-30

Primary completion

2017-01-24

Completion

2017-01-24

Publications

• Background Davis SD, Schaller J, Wedgwood RJ. Job's Syndrome. Recurrent, "cold", staphylococcal abscesses. Lancet. 1966 May 7;1(7445):1013-5. doi: 10.1016/s0140-6736(66)90119-x. No abstract available.
• Background Buckley RH, Wray BB, Belmaker EZ. Extreme hyperimmunoglobulinemia E and undue susceptibility to infection. Pediatrics. 1972 Jan;49(1):59-70. No abstract available.
• Background Holland SM, DeLeo FR, Elloumi HZ, Hsu AP, Uzel G, Brodsky N, Freeman AF, Demidowich A, Davis J, Turner ML, Anderson VL, Darnell DN, Welch PA, Kuhns DB, Frucht DM, Malech HL, Gallin JI, Kobayashi SD, Whitney AR, Voyich JM, Musser JM, Woellner C, Schaffer AA, Puck JM, Grimbacher B. STAT3 mutations in the hyper-IgE syndrome. N Engl J Med. 2007 Oct 18;357(16):1608-19. doi: 10.1056/NEJMoa073687. Epub 2007 Sep 19.

Drugs

Indications

No indication recorded.