The NIH UNI Study: Urea Cycle Disorders, Nutrition and Immunity

NCT01421888 | Terminated

• 2 other identifiers: 11021711-HG-0217
• Study Type: observational
• Target: 4
• Locations: 1 country
• Sites: 1

Brief Summary

Objectives:

• To study nutrition and immune system problems in people with urea cycle disorders.
• To study how people with urea cycle disorders and healthy volunteers respond to standard flu and/or hepatitis A vaccines.
• To compare differences in nutrition and immune systems of people with urea cycle disorders with that of healthy volunteers. Eligibility:
• Healthy males and females at least 2 years of age who are able to travel to the National Institutes of Health hospital in Bethesda, MD
• Males and females at least 2 years of age who have a urea cycle disorder and are able to travel to the National Institutes of Health hospital in Bethesda, MD. Design: For Patients with urea cycle disorder:
• Participants will spend 2 to 3 days in the National Institutes of Health hospital for the following tests:
• A physical exam and review of medical history
• Food log for 3 days before the start of the study
• Blood tests
• 24-hour urine collection
• Resting metabolism test
• DEXA scan imaging study of bones and body fat
• Participants who are old enough to do certain tasks by themselves (like dressing and eating) can choose to have the following extra tests:
• 24-hour metabolic room measurements
• BodPod(Registered Trademark) study to measure bones and body fat
• Participants may choose to have a flu shot and/ or Hepatitis A shot at the end of the study and will be monitored to check for possible side effects.
• Participants will return within 1 to 3 months for follow-up tests/immunizations. For Healthy Volunteers:
• Participants will be seen at the outpatient clinics at the National Institutes of Health hospital for up to 2 visits for the following:
• Review food log completed 3 days before the start of the study
• Blood tests
• Participants may choose to have a flu shot and/ or Hepatitis A shot at the end of the study and will be monitored to check for possible side effects.
• Participants will return within 1 to 3 months for follow-up tests/immunizations.
• Review of second food log completed 3 days before second outpatient visit

Conditions

Argininosuccinic Aciduria; Carbamoyl-Phosphate Synthase I Deficiency; Citrullinemia; Ornithine Carbamoyltransferase Deficiency; Hyperargininemia; N-Acetylglutamate Synthase Deficiency

Keywords

Immunity; Urea Cycle Disorder; Nutrition; Vaccination; Influenza

Eligibility Criteria

• Age: 2 Years - 99 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• Patients:
• Any gender and ethnicity age 2 years and older with a diagnosis of a urea cycle disorder are eligible to enroll in this protocol.
• Patients need to be medically and nutritionally managed by a local metabolic provider. If necessary, we will obtain written consent from the patient to review medical records from their home physician to confirm eligibility.
• Healthy Volunteers:
• Any gender and ethnicity age 2 years and older are eligible to enroll in this protocol.
• Have access to own personal medical provider \<TAB\>

You may not qualify if:

• Less than 2 years of age
• Inability to travel to NIH because of their medical condition
• Recent (6 month) history of vaccination or immune modulating drug
• Severe reactions to eggs and or latex
• History of severe reactions to previous immunizations (e.g. hives, rash, difficulty breathing)
• Persons without a personal medical provider
• Persons with current infections or under care of medical provider for an ongoing medical issue

Sponsors & Collaborators

• National Human Genome Research Institute (NHGRI): lead

Study Sites (1)

National Institutes of Health Clinical Center, 9000 Rockville Pike

Bethesda, Maryland, 20892, United States

Location

Related Publications (3)

• Barshop BA, Summar ML. Attitudes regarding vaccination among practitioners of clinical biochemical genetics. Mol Genet Metab. 2008 Sep-Oct;95(1-2):1-2. doi: 10.1016/j.ymgme.2008.08.001. No abstract available.

  PMID: 18816884 BACKGROUND

• Batshaw ML, Brusilow S, Waber L, Blom W, Brubakk AM, Burton BK, Cann HM, Kerr D, Mamunes P, Matalon R, Myerberg D, Schafer IA. Treatment of inborn errors of urea synthesis: activation of alternative pathways of waste nitrogen synthesis and excretion. N Engl J Med. 1982 Jun 10;306(23):1387-92. doi: 10.1056/NEJM198206103062303.

  PMID: 7078580 BACKGROUND

• Summar M, Tuchman M. Proceedings of a consensus conference for the management of patients with urea cycle disorders. J Pediatr. 2001 Jan;138(1 Suppl):S6-10. doi: 10.1067/mpd.2001.111831.

  PMID: 11148544 BACKGROUND

MeSH Terms

Conditions

Argininosuccinic Aciduria; Citrullinemia; Ornithine Carbamoyltransferase Deficiency Disease; Hyperargininemia; N-acetyl glutamate synthetase deficiency; Urea Cycle Disorders, Inborn; Influenza, Human

Condition Hierarchy (Ancestors)

Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Amino Acid Metabolism, Inborn Errors; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolic Diseases; Nutritional and Metabolic Diseases; Genetic Diseases, X-Linked; Respiratory Tract Infections; Infections; Orthomyxoviridae Infections; RNA Virus Infections; Virus Diseases; Respiratory Tract Diseases

Study Officials

• Peter J McGuire, M.D.

  National Human Genome Research Institute (NHGRI)

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Time Perspective: PROSPECTIVE
• Sponsor Type: NIH

Study Record Dates

• First Submitted: August 20, 2011
• First Posted: August 23, 2011
• Study Start: August 8, 2011
• Study Completion: April 17, 2013
• Last Updated: December 9, 2019

Record last verified: 2013-04-17

Locations

US (1)