The Metabolism Infection Immunity (MINI) Study is a clinical research study at the National Institutes of Health (NIH) exploring how Inborn Errors of Metabolism (IEM) affect the function of the immune system. Inborn Errors of Metabolism are a group of disorders that causes a block in a metabolic pathway leading to clinically significant consequences.
The main goal of our study is to learn about the metabolic and dietary complications in patients with IEM, mitochondrial and related disorders and understand the effect(s) that those complications may have on the function of the immune system. We will perform a detailed nutritional and immunologic assessment for all study participants and will then offer Hepatitis A, pneumococcal, and influenza vaccines that are recommended for all IEM patients. For those participants who choose to be immunized, we will measure whether or not the study participant's immune system was able to respond appropriately to that vaccine at a follow-up visit.
We are not testing any new medicine or procedure to treat or cure IEM. At the NIH, we are interested in research. Although we are happy to provide advice for people enrolled in our study, we are not able to take over the long-term care of a person with an IEM. To enroll in our study, you (your child) must have a confirmed diagnosis of an IEM. We are not able to provide a "first time" diagnosis or regular metabolic care.
For more information, view our Frequently Asked Questions about Inborn Errors of Metabolism.
One of our team members will first need to talk with you on the phone to see if you are (your child is) eligible to join the study. Joining the MINI study will involve at least one visit to the National Institutes of Health in Bethesda, Maryland. This first visit will typically last 2-3 days. Depending on the level of participation, additional visits, 2-3 days in length, may be required. Study participants may be seen as outpatient or admitted as an inpatient depending on the level of participation.
When you (your child) first arrive at the NIH we will have an informed consent discussion to review the risks and benefits of the study and confirm that you are (your child is) willing to join the study. You (your child) will meet with a geneticist who will ask about medical and family history and do a physical exam (like in any doctor's office). We will ask all study participants to allow us to collect urine, draw blood, and perform a detailed nutritional and immunologic assessment. We will suggest an additional set of evaluations for some participants that we feel is appropriate based on age and level of independence. We will explain the need for those studies to you (your child). They may include imaging studies such as a DEXA scan and a CT scan, body composition testing, energy expenditure testing, and possibly a skin biopsy (if one has not been done). We will offer the Hepatitis A, pneumococcal, and influenza vaccines that are recommended for all IEM patients. You will receive the results of your (your child's) clinical testing.
We take privacy and confidentiality very seriously. Your (your child's) medical information will be stored in a password-protected database and in a locked filing cabinet. Although we may share medical information with our colleagues, your (your child's) name will not be used. Instead a code will be used that is unrelated to your (your child's) name. The "key" to the code will be stored in a locked drawer in the office of the principal investigator or in a secure password-protected database.
Benefits and Risks
There are no direct benefits to the study. However, we hope the results from the study will eventually benefit other patients and families with IEM.
Possible collateral benefits include:
- A comprehensive nutritional and immunologic evaluation.
- Results of other clinical testing.
- Immunization for Hepatitis A, pneumonia and influenza, which are standard of care for patients with IEM.
Possible risks include:
- Pain or bruising as a result of the blood draw.
- Soreness, redness or swelling at the site of the vaccination; Hoarseness, sore or red eyes, cough, itchiness, fever, aches as a result of the vaccination.
- Radiation exposure during the DEXA scan.
The above risks tend to be very rare or minor. Life-threatening allergic reactions from vaccines are very rare.
Eligibility and Enrollment
The first step is to determine if you are (your child is) eligible to participate.
To be in our study a person must:
1. Be at least 2 years of age.
2. Have a biochemically confirmed diagnosis of IEM or a related disorder.
3. Be able to travel to the NIH Clinical Center in Bethesda, Maryland. Additional visits may be made depending on the level of participation.
There are some reasons why someone may not be able to join the study. We can not enroll anyone who:
1. Under 2 years of age.
2. Being treated for an intercurrent infection with antibiotics, has evidence of an acute infection, or has hyperammonemia (a high level of ammonia).
3. Has received another vaccine or immune modulating drug within the past 6 months.
4. Currently living in a hospital.
5. Does not have a local/regular physician who manages their IEM.
6. Currently pregnant.
There is no cost to you, your family, or your insurance company for this study. The visit and all testing are free. If you live locally (near the NIH) we will give you some money for meals and provide lodging if necessary. If you live further away, we will pay for your transportation to NIH (plane, car mileage, train, etc), lodging, and give you some money for meals. The NIH must arrange all travel.
You (your child) will not receive any compensation other than some food, travel and lodging expenses.
For general questions about the study or to find out if you (or your child) are eligible to enroll in the study, please contact Janet Shiffer, Nurse Practitioner and study coordinator:
By E-mail: firstname.lastname@example.org
By Phone: 301-451-9145
By Fax: 301-480-9454
- IEM Study
Building 10 CRC, Room 5-1485
Bethesda, MD 20892-1449
Alternatively, please contact the central NIH recruitment office (your inquiry will then be forwarded to us):
Please refer to the MINI study in Inborn Errors of Metabolism by its ClinicalTrials.gov identifier: NCT01780168
By Phone or E-mail:
- Patient Recruitment and Public Liaison Office
National Institues of Health Clinical Center
Phone (Toll Free): 800-411-1222
TTY: (Toll-Free) 1-866-411-1010 (Local) 301-594-9774
- Patient Recruitment and Public Liaison Office
10 Cloister Court
Bethesda, MD 20892-4754
To find this study on clinicaltrials.gov, type our unique study identifier in the search box: NCT01780168. To find all studies related to inborn errors of metabolism, type "inborn errors of metabolism" in the search box.
Last updated: June 8, 2017