The NIH MINI Study: Metabolism, Infection, and Immunity in Inborn Errors of Metabolism
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|ClinicalTrials.gov Identifier: NCT01780168|
Recruitment Status : Recruiting
First Posted : January 30, 2013
Last Update Posted : March 25, 2019
- 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.
|Condition or disease|
|UCD MMA Acidemias Fatty Acid Oxidation Defects Mitochondrial Disease|
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.
In this protocol, we will clinically evaluate the immunologic states 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 and pneumococcus (PPV23). Follow-up appointments will be scheduled at the end of the study period.
The study objectives will be to describe the immune deficiencies seen, in this patient population, describe vaccine seroconversion in this patient population, and search for new genes in rare families that have evidence for an unknown class of IEM. 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.
|Study Type :||Observational|
|Estimated Enrollment :||250 participants|
|Official Title:||The NIH Mini Study: Metabolism, INfection and Immunity in Inborn Errors of Metabolism|
|Actual Study Start Date :||December 31, 2012|
|Estimated Primary Completion Date :||December 31, 2022|
|Estimated Study Completion Date :||December 31, 2022|
Inborn errors of metabolism/mitochondrial disease
Patients with inborn errors of metabolism including those with mitochondrial disease
- Provide insight into the mechanisms involved in immunonutrition and viral immunity leading to new paradigms in the interplay between the immune system and intermediary metabolism [ Time Frame: Initial visit and various timepoints thereafter dependent on protocol ]Provide insight into the mechanisms involved in immunonutrition and viral immunity leading to new paradigms in the interplay between the immune system and intermediary metabolism.
- To document the development of adaptive immunity in cohorts of IEM patients immunized according to the standard of care for this vulnerable population. [ Time Frame: initial visit and various timepoints thereafter dependent on protocol ]Provide insight into the mechanisms involved in immunometabolism and viral immunity. By developing an understanding of immune dysfunction in IEM, targets for rational therapies may be developed
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01780168
|Contact: Peter J McGuire, M.D.||(301) firstname.lastname@example.org|
|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 Office of Patient Recruitment (OPR) 800-411-1222 ext TTY8664111010 email@example.com|
|Principal Investigator:||Peter J McGuire, M.D.||National Human Genome Research Institute (NHGRI)|