Metabolism, Infection and Immunity (MINI) Study

The main goal of our study is to understand the relationship between infection and clinical decline in patients with mitochondrial disease. Mitochondrial diseases can affect many different parts of the body, including the immune system and its ability to respond to infection. Therefore, we perform a comprehensive evaluation of participants including a detailed immunologic assessment.  

We are not testing any new medicine or procedure to treat or cure IEM or mitochondrial diseases. However, by understanding the relationship between infection and mitochondrial disease, we hope to develop treatments in the future. At the NIH, we are interested in research. Although we do provide advice and care for people enrolled in our study, we are not able to take over the long-term care of participants. To enroll in our study, you (your child) must already have a confirmed diagnosis of a mitochondrial disease. We are not able to provide a "first time" diagnosis or regular metabolic care.

Once you contact our team members, you will be asked to provide medical records to determine eligibility. Our team will review the records and notify you if you (your child is) eligible to join the study.

• Onsite participation: You (your child) will be invited to visit the National Institutes of Health in Bethesda, Maryland. This first visit will typically last 3-5 days. Depending on the level of participation, additional visits may be necessary. Our team members will work with you and your child to determine the supports needed during your stay at NIH.  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 physician 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, swab your (your child’s) nose, and perform a detailed 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 or MRI scan, energy expenditure or metabolic testing, and possibly a skin biopsy (if one has not been done). You will receive the results of your (your child's) clinical testing and notes from any clinical consultations.
   
• Remote participation: If you (your child) are unable to travel, you (your child) may be enrolled remotely for records and samples collection.   
  
  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.

There are no direct benefits to the study. However, we hope the results from the study will eventually benefit other patients and families with mitochondrial disease.

Possible collateral benefits include:

• A comprehensive nutritional and immunologic evaluation.
• Results of other clinical testing or consultations.

Possible risks include:

• Pain, bruising, or risk of infection as a result of the blood draw or skin biopsy.
• Radiation exposure during the DEXA scan, if performed.

The above risks tend to be very rare or minor. 

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 at study enrollment.
2. Have a confirmed diagnosis of mitochondrial disease.

There are some reasons why someone may not be able to join the study. We cannot enroll anyone who:

1. Under 2 years of age at study enrollment.
2. Does not have a local/regular physician who manages their mitochondrial disease.

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 Shannon Kruk, research nurse and study coordinator:

By E-mail: ministudy@mail.nih.gov
By Phone: 301-451-9145
By Fax: 301-480-4937
By Mail:

• MINI 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 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
  E-mail: rprpl@mail.cc.nih.gov
   

By Mail:

• Patient Recruitment and Public Liaison Office
  Building 61
  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.