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

This study is currently recruiting participants.
Verified August 4, 2017 by National Institutes of Health Clinical Center (CC) ( National Human Genome Research Institute (NHGRI) )
Sponsor:
ClinicalTrials.gov Identifier:
NCT01780168
First Posted: January 30, 2013
Last Update Posted: October 19, 2017
The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Human Genome Research Institute (NHGRI) )
  Purpose

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.

Condition
UCD MMA Acidemias Fatty Acid Oxidation Defects Mitochondrial Disease

Study Type: Observational
Official Title: The NIH Mini Study: Metabolism, Infection and Immunity in Inborn Errors of Metabolism

Resource links provided by NLM:


Further study details as provided by National Institutes of Health Clinical Center (CC) ( National Human Genome Research Institute (NHGRI) ):

Primary Outcome Measures:
  • 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 ]

Estimated Enrollment: 250
Study Start Date: January 29, 2013
Estimated Study Completion Date: December 1, 2022
Estimated Primary Completion Date: December 1, 2017 (Final data collection date for primary outcome measure)
Detailed Description:

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.

  Eligibility

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.


Ages Eligible for Study:   2 Years and older   (Child, Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Criteria
  • 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. 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, and recent vaccination. 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.

  Contacts and Locations
Information from the National Library of Medicine

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


Contacts
Contact: Peter J McGuire, M.D. (301) 451-7716 mcguirepj@mail.nih.gov

Locations
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    prpl@mail.cc.nih.gov   
Sponsors and Collaborators
National Human Genome Research Institute (NHGRI)
Investigators
Principal Investigator: Peter J McGuire, M.D. National Human Genome Research Institute (NHGRI)
  More Information

Additional Information:
Publications:
Responsible Party: National Human Genome Research Institute (NHGRI)
ClinicalTrials.gov Identifier: NCT01780168     History of Changes
Other Study ID Numbers: 130053
13-HG-0053
First Submitted: January 29, 2013
First Posted: January 30, 2013
Last Update Posted: October 19, 2017
Last Verified: August 4, 2017

Keywords provided by National Institutes of Health Clinical Center (CC) ( National Human Genome Research Institute (NHGRI) ):
Inborn Error of Metabolism
Metabolism
UCD
Immunity
Nutrition
Mitochondrial Disease

Additional relevant MeSH terms:
Mitochondrial Diseases
Metabolism, Inborn Errors
Metabolic Diseases
Genetic Diseases, Inborn