Research Studies

 How do I learn more about current open studies?
Below you will find a list of current studies. Clicking on the link will take you to the study summary, which will provide you with all the important details for each study.


 How do I participate in a study?
Each study summary provides a list of hospitals or clinics where the study is being run. Using the contact information provided, you may contact any of these facilities in order to request participation in a study.


Please Note: The Rare Diseases Clinical Research Network will make every effort to enroll all the patients we can, but we cannot make any guarantees that we will be able to enroll everyone in a particular study who wants to participate.


Other Mitochondrial Disease Studies

Mitochondrial Disease Participants Needed for New Research Study at CHOP and HUP
Individuals with mitochondrial disease are needed for an observational research study at CHOP and HUP. The study involves non-invasive MRI methods and blood glucose tests to focus on the relationship between mitochondrial disease, obesity, and risk of diabetes. To be potentially eligible for the research study, we require the following:

  • Medical history consistent with the clinical diagnosis of mitochondrial disease and a molecular genetic diagnosis
  • Be between the ages of 18 to 65 years, inclusive
  • Able to fast for 10 hours overnight
  • Able to complete a 90-minute MRI scan and blood glucose testing

Participants will meet with the principal investigator, Dr. Shana McCormack, MD, and complete a 2-day study visit at HUP and CHOP, including an overnight stay. We conduct only minimally-invasive procedures with full safety monitoring and there are no study medications or sedation.

We may be able to provide reimbursement for travel, lodging, and food. In addition, participants have the potential to obtain clinically-relevant laboratory results and compensation of up to $300.00.

Additional information about the study is also located at

To learn more about the research study and determine your eligibility, contact Sara Nguyen at or (267) 426-7165.


Please Note: The research listed in under "Other Mitochondrial Disease Studies" is not being conducted by the North American Mitochondrial Disease Consortium.