Mito Study Roundup: Studies Available for Patients, Caregivers

Updated 8/22/24

We all want more and better therapies for mitochondrial disease, and to achieve this goal we need patients who are willing to help by participating in clinical research even when no drug is being tested. Please consider engaging in one or more of the non-drug clinical research opportunities below. If you have questions about any of these studies or are unsure of your diagnosis, feel free to contact UMDF’s science team or speak with your healthcare provider. We are here to help!

Symptoms in Mitochondrial Disease Study: Phase 2

What: We are creating a patient-reported outcome measure for individuals with mitochondrial disease. This research study is being conducted by Chad Heatwole, MD, MS-CI from the University of Rochester Department of Neurology in conjunction with Glen Cook, MD, a neuromuscular mitochondrial specialist and his team at Walter Reed National Military Medical Center, and the Metis Foundation. This research is funded by the U.S. Department of Defense.
Goal: The study aims to identify the symptoms that have the greatest impact on the quality-of-life of individuals with mitochondrial disease. The ultimate goal of this study is to create an outcome measure to help guide future mitochondrial disease research. This online study involves completing demographic questions about yourself and your symptoms of mitochondrial disease which will take approximately 20 minutes to complete.
Who can participate: Individuals ages 18 years and older with mitochondrial disease, residing in the United States.
How to participate: Interested participants may take the online survey through the following link: https://redcap.link/MitoDsurvey
Note: If you do not have access to the internet or are unable to complete the survey online, we can mail you a paper version by emailing: [email protected]

Patient Perspective Interview for Adolescent Patients with a MELAS diagnosis

Goal: Conduct interviews with adolescent patients who are clinically and genetically diagnosed with MELAS to collect perspectives that will help shape how the effects of a drug in development will be assessed in an upcoming clinical trial
Open to English-speaking patients ages 12 – 17
Participants will receive $150 for completing two 45-minute interviews ($75 per interview) from the comfort of your home and at your convenience.
Contact [email protected] or call (617) 720-0001 if interested.
This study is being conducted by Tisento Therapeutics.

NIH Metabolism, Infection and Immunity (MINI) Study:

Goal: Conduct interviews with caregivers of children with mitochondrial disease to participate in a survey about the use of immune therapies in children with mitochondrial disease. The purpose of this study is to understand how widespread these therapies are in the community, why some people are receiving them and how they may or may not benefit their disease. We ask you to complete this survey regardless of whether or not your child with mitochondrial disease is receiving immunotherapy.

You are eligible to participate in this survey if:
- You are a caregiver of a child (0-17) with mitochondrial disease AND
- You are 18 years of age or older.
Responding to this survey is entirely voluntary and takes approximately 15 minutes.Responses are anonymous and no individual identifying information will be requested. Aggregate survey data will be shared within the NIH and published. No individual data will be shared. Only the study team will have access to individual answers, without any identifiers.
Please visit: https://www.surveymonkey.com/r/UMDF-eblast to participate in this important survey.
If you should have questions or concerns about the study, please contact the NIH study team at mini [email protected]or 301.451.9145.