The NIH MINI Study: Metabolism, Infection, and Immunity in Inborn Errors of Metabolism

This study is currently recruiting participants. (see Contacts and Locations)
Verified July 2016 by National Institutes of Health Clinical Center (CC)
Sponsor:
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Human Genome Research Institute (NHGRI) )
ClinicalTrials.gov Identifier:
NCT01780168
First received: January 29, 2013
Last updated: August 16, 2016
Last verified: July 2016

January 29, 2013
August 16, 2016
December 2012
December 2016   (final data collection date for primary outcome measure)
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 ]
Same as current
Complete list of historical versions of study NCT01780168 on ClinicalTrials.gov Archive Site
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The NIH MINI Study: Metabolism, Infection, and Immunity in Inborn Errors of Metabolism
The NIH Mini Study: Metabolism, Infection and Immunity in Inborn Errors of Metabolism

Background:

- 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.

Objectives:

- To study the how having an IEM may affect immune system functioning.

Eligibility:

  • Individuals at least 2 years of age who have an IEM.
  • Healthy volunteers at least 2 years of age.

Design:

  • 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.

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.

Observational
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  • UCD
  • MMA
  • Acidemias
  • Fatty Acid Oxidation Defects
  • Mitochondrial Disease
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*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruiting
250
December 2016
December 2016   (final data collection date for primary outcome measure)
  • INCLUSION and EXCLUSION CRITERIA

Patients of any gender and ethnicity age 2 years and older are eligible to enroll in this protocol. Patients will be diagnosed based on a determination of several parameters that may include: plasma ammonia, acylcarnitine profile, amino acid and/or organic acid patterns. Some will have their DNA mutation or enzyme analysis known or pending. Participants need to be medically and/or nutritionally managed by a local metabolic provider. We will obtain written consent from the patient to review medical records from their home physician to confirm eligibility.

Healthy volunteers of any gender and ethnicity 2 years and older will also be eligible to enroll in the vaccination arm of the protocol. These individuals will be vaccinated and have blood collected in an outpatient setting on visits 1 and 2. Influenza vaccination is normally offered seasonally to the public. Hepatitis A vaccination is currently part of the pediatric vaccination schedule. Volunteers will be compensated for their participation in the study. Healthy volunteers may be from the local community, or family members of patients with IEM.

Patient and healthy volunteer exclusion criteria include: less than 2 years of age, inability to travel to NIH because of their medical condition, recent vaccination, severe reactions to eggs, latex, severe reactions to previous immunizations. The Principal Investigator may decline to enroll a patient for other reasons based on clinical judgment. Other criteria that may lead to exclusion include, for example, residing in a hospital, any patient who is being treated for an intercurrent infection with antibiotics or has evidence of an acute infection. Furthermore for IEM patients, any patient who does not have a regular/local metabolic, genetic or endocrine physician and/or a family physician, pediatrician, or internist will also be excluded. For IEM patients, Dr. McGuire will contact each potential patient s local metabolic physician to discuss the patient s past medical history, details of their last visit, and their current metabolic status to determine whether the patient is an appropriate candidate for this protocol. Closer to a scheduled visit, Dr. McGuire will confirm the details of the patient s formula recipe and medications. Lastly, each family will be contacted by Dr. McGuire or a member of the study staff one week prior to a pending inpatient admission to confirm that the patient is metabolically stable and ready to visit

the NIH in a state of relative health, with an adequate supply of special formulas, medications and supplements.

Both
2 Years and older   (Child, Adult, Senior)
Yes
Contact: Janet L Shiffer, C.R.N.P. (301) 451-9145 janet.shiffer@nih.gov
Contact: Peter J McGuire, M.D. (301) 451-7716 mcguirepj@mail.nih.gov
United States
 
NCT01780168
130053, 13-HG-0053
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National Human Genome Research Institute (NHGRI)
National Human Genome Research Institute (NHGRI)
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Principal Investigator: Peter J McGuire, M.D. National Human Genome Research Institute (NHGRI)
National Institutes of Health Clinical Center (CC)
July 2016

ICMJE     Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP