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 ]
|Study Start Date:||December 2012|
|Estimated Study Completion Date:||December 2017|
|Estimated Primary Completion Date:||December 2017 (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 to provide protective immunity in IEM is critical. Immune deficiencies have not been well characterized in IEM.
Viral infections play a significant role in precipitating life-threatening acute metabolic decompensations in various IEM. Seasonal variation of respiratory and gastrointestinal viruses and the recent reduction in herd immunity for vaccine preventable diseases places this vulnerable population at significant risk. The standard of care for these patients is routine childhood vaccination. However, underlying IEM enzymopathies may affect the efficacy of vaccination and immune responses in general.
In this protocol, we will clinically evaluate the immunologic status of patients with IEM. Routine inpatient and outpatient admissions will last 2-3 days and may involve blood drawing, radiological procedures, nutrition assessment and biometrics. Immune challenge may be performed using vaccinations for seasonal influenza, Hepatitis A, and pneumococcus (PPV23). Follow-up appointments will be scheduled at the end of the study period.
The overall study objectives is to describe the immune status 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.
Please refer to this study by its ClinicalTrials.gov identifier: NCT01780168
|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)|