The NIH MINI Study: Metabolism, Infection, and Immunity in Inborn Errors of Metabolism
| Status: | Recruiting |
|---|---|
| Conditions: | Other Indications, Gastrointestinal |
| Therapuetic Areas: | Gastroenterology, Other |
| Healthy: | No |
| Age Range: | 2 - Any |
| Updated: | 4/6/2019 |
| Start Date: | December 31, 2012 |
| End Date: | December 31, 2022 |
| Contact: | Peter J McGuire, M.D. |
| Email: | mcguirepj@mail.nih.gov |
| Phone: | (301) 451-7716 |
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.
- 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 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.
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.
- 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.
We found this trial at
1
site
9000 Rockville Pike
Bethesda, Maryland 20892
Bethesda, Maryland 20892
Phone: 800-411-1222
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