The NIH MINI Study: Metabolism, Infection and Immunity in Inborn Errors of Metabolism
Frequently Asked Questions about the MINI Study
What is this study about?
The main goal of our study is to learn about the metabolic and dietary complications in patients with IEM 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 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.
What are we NOT trying to do with this study?
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.
Who can participate in this study?
To be in our study a person must:
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:
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.
What is involved in the study?
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 and influenza vaccines that are recommended for all IEM patients. You will receive the results of your (your child's) clinical testing.
What are the benefits of participating in the study?
There are no direct benefits to the study.
Possible collateral benefits include:
- A comprehensive nutritional and immunologic evaluation.
- Results of other clinical testing.
- Immunization for Hepatitis A and influenza, which are standard of care for patients with IEM.
Further, we hope the results from the study will eventually benefit other patients and families with IEM.
What are the risks of participating in the study?
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.
How will information about participants be kept private?
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.
Is there any cost involved in participation?
The visit and all testing are free and there is no cost to you, your family, or your insurance company for this study. 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.
Is there any payment provided for participation?
No, you (your child) will not receive any compensation other than some food, travel and lodging expenses.
How does someone enroll in this study?
The first step is to determine if you are (your child is) eligible to participate. Please see the FAQ "Who can participate in the study" above for details. If you have questions about whether you are (your child is) eligible, or if you would like to enroll, please contact us. (Study Contact Information)
Where else can I find information about this study on the Web?
These Web pages provide the most information about this specific study on the Web. This study is also listed on ClinicalTrials.gov along with all other NIH studies and many non-NIH studies. 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: February 22, 2013