The NIH MINI Study: Metabolism, Infection, and Immunity in Inborn Errors of Metabolism
- Inborn errors of metabolism (IEM) can affect how the body's immune system functions. People with IEM also have special dietary restrictions that may affect the function of their immune system. Researchers want to better understand how having an IEM may affect immune system function.
- To study the how having an IEM may affect immune system functioning.
- Individuals at least 2 years of age who have an IEM.
- Healthy volunteers at least 2 years of age.
- Participants will come to the NIH Clinical Center for at least 1 evaluation. Depending on the level of participation, participants may return for additional visits. All participants (or their parents) must keep a detailed food diary for 3 days before the initial visit.
- At the study visit, participants will provide blood samples. Females of childbearing age will provide a urine sample.
- Participants will be offered the hepatitis A vaccination if not already given. If the visit occurs during flu season (roughly September through March), they will be offered a seasonal/H1N1 influenza vaccine.
- Children between 2 and 8 years of age may require booster shots depending on their history of vaccination.
- At a follow-up visit(s), participants will provide additional blood samples.
- Participants may return yearly for their flu vaccine.
Fatty Acid Oxidation Defects
|Official Title:||The NIH Mini Study: Metabolism, Infection and Immunity in Inborn Errors of Metabolism|
- Specific and generalized nutritional deficiencies in cohorts of IEM patients descriptive and functional immunologic data in cohorts of IEM patients by the collection of biologic specimens as above and the utilization of humanized mouse models. [ Time Frame: 30-70 days after vaccination ] [ Designated as safety issue: No ]
|Study Start Date:||December 2012|
|Estimated Study Completion Date:||December 2016|
|Estimated Primary Completion Date:||December 2016 (Final data collection date for primary outcome measure)|
The biochemical perturbations in children with inborn errors of metabolism (IEM) may affect their immune response. As a result, this will not only increase risk for infection but also hamper their ability to develop protective immunity after vaccination. Characterizing perturbations in immunity and the ability of vaccines to provide protective immunity in IEM is critical. Immune deficiencies and the immunogenicity of vaccines have not been well characterized in IEM.
Viral infections play a significant role in precipitating life-threatening acute decompensations in various IEM. Seasonal variation of respiratory and gastrointestinal viruses places this vulnerable population at significant risk. The standard of care for these patients is routine childhood vaccination as well as vaccination for seasonal influenza viruses. However, nutritional deficiencies and their underlying IEM enzymopathies may affect the efficacy of vaccination.
Dietary management of IEM includes dietary modifications with restriction of macronutrients. Protein energy malnutrition, essential fatty acid deficiencies and micronutrient deficiencies due to restrictive dietary management have been reported in various inborn errors of metabolism. In general, dietary deficiencies and their effect on immune function are well documented.
In this protocol, we will clinically evaluate the nutritional/metabolic and immunologic states of patients with IEM. Routine inpatient admissions will last 2-3 days and involve urine collection, stool collection, blood drawing, radiological procedures, nutrition assessment and biometrics. Immune challenge will be performed using vaccinations for seasonal influenza and Hepatitis A. Follow-up appointments will be scheduled at the end of the study period.
The study objectives will be to describe the nutritional and immune deficiencies seen, query for nutrition/enzymatic/immunologic correlations in this patient population, and describe vaccine seroconversion in this patient population. The population will consist of patients previously evaluated at NIH, physician referrals, and families directed to the study from clinicaltrials.gov as well as the patient advocacy groups. All patients will be evaluated at the NIH Clinical Center.
|Contact: Janet L Shiffer, C.R.N.P.||(301) firstname.lastname@example.org|
|Contact: Peter J McGuire, M.D.||(301) email@example.com|
|United States, Maryland|
|National Institutes of Health Clinical Center, 9000 Rockville Pike||Recruiting|
|Bethesda, Maryland, United States, 20892|
|Contact: For more information at the NIH Clinical Center contact Patient Recruitment and Public Liaison Office (PRPL) 800-411-1222 ext TTY8664111010 firstname.lastname@example.org|
|Principal Investigator:||Peter J McGuire, M.D.||National Human Genome Research Institute (NHGRI)|