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

• Status: Terminated
• Trial end date: 2017-01-24
• Target enrollment: 0
• Participant gender: All

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.

• Phase: Phase 1
• Accepts Healthy Volunteers?: No

Details

• Lead Sponsor: National Institute of Allergy and Infectious Diseases (NIAID)

Criteria

• INCLUSION CRITERIA:

Subjects must have:

• Age greater than or equal to 2 years

• An inherited syndrome presenting with immunologic abnormalities and altered glycosylation detected using clinical tests evaluating N- and O-linked glycan by mass spectroscopy

• A local physician who is willing to follow the patient during the study period

• For females of childbearing potential, willingness to use a highly effective method of contraception (e.g., abstinence, intrauterine device [IUD]; oral contraceptives; diaphragms; or condom in combination with contraceptive foam, jelly, or cream; Norplant, contraceptive patch or cervical ring)

• Willingness to have samples stored for future research including genetic testing

EXCLUSION CRITERIA:

• Pregnant, breastfeeding, or intent to become pregnant

• Renal failure or chronic kidney disease requiring dialysis

• Uncontrolled asthma

• Abuse of drugs or alcohol as assessed during complete history and physical performed at the screening visit

• Current or recent participation in a clinical protocol which includes an intervention that, in the opinion of the investigator, may affect the results of the current study

• Use of medications that interact with N-acetylglucosamine including warfarin and medications for the treatment of cancer (antimitotic chemotherapy including etoposide, teniposide, and doxorubicin) and diabetes (including glimepiride, glyburide, insulin, pioglitazone, rosiglitazone, chlorpropamide, glipizide and tolbutamide).

• Planned major surgery during the study period requiring general anesthesia

• Any condition that in the opinion of the investigator places the patient at undue risk for being in the study

• Unwillingness or inability to comply with the need to have periodic blood tests to monitor possible side effects of supplementation, or other major requirements of this study.