Mito Study Roundup: Studies Available for Patients, Caregivers

Mito Study Roundup: Studies Available for Patients, Caregivers

Updated 2/8/24, 11:57 ET am

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!

Online Survey for TK2d Patients and their Caregivers — Closing February 15, 2024

  • Goal: To support an accurate understanding of TK2d and the impact to caregivers and people with TK2d.
  • Why participate? Research is needed to document evidence about the signs, symptoms and challenges that TK2d imposes on individuals and families.
  • Enrolling those 18 and older, who have a genetically confirmed diagnosis of TK2d and who have not received nucleoside therapy on a clinical trial, and their caregivers.
  • No travel or clinic visits – typically 60 minutes of your time.
  • €60 (or local currency equivalent) gift voucher compensation upon completion of survey.
  • Click HERE to learn more about the study!
  • This study is being conducted by Rare Disease Research Partners.

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 or call (617) 720-0001 if interested.
  • This study is being conducted by Tisento Therapeutics.



Caregiver Perspective Study- Are you a father to a MELAS patient?
Update: 2/8/24 — This study is now fully recruited. 

  • Goal: Conduct a brief online survey with fathers of MELAS patients to better understand their perspective as a caregiver of a MELAS patient
  • Why participate? Understanding caregiver burden is an important topic when developing therapeutics, and the father perspective is under-researched. Please encourage any caregivers in your life to consider joining mitoSHARE and participate in this study.
  • Participants will receive a $25 gift card for their time upon completion of the study.
  • Click here to conduct the survey!
  • This study is being conducted by the Wisconsin School of Medicine.

Patient Perspective Survey for Patients with an m.3243A>G Mutation or MELAS diagnosis
Update: 1/24/24 — This study is now fully recruited.

  • Goal: Conduct a brief online survey with patients who have a genetically-confirmed 3243 mutation or a MELAS diagnosis to validate key aspects of a clinical development protocol to support a successful and impactful product development
  • Why participate? The 3243 mutation and a diagnosis of MELAS are common forms of adult mitochondrial disease for which significant interest exists in developing therapeutics. Lend your voice in developing better clinical trials!
  • Open to patients between the ages of 18-65, both male and female
  • Confirmed diagnosis of m.3243A>G or MELAS
  • This study is being conducted by Trinity Life Sciences.

Patient Perspective Interview for Patients with a mitochondrial disease diagnosis.
Update:  Phase 1 now complete; watch for Phase 2 launch soon

    • Goal: The study aims to identify the symptoms that have the greatest impact on quality-of-life for those with mitochondrial disease.
    • Why participate? This will help inform future research involving individuals with mitochondrial disease.
    • Open to patients in the United States who are at least 18 years of age
    • Contact if interested.
    • This study is being conducted by the University of Rochester.

Patient/Caregiver Perspective Interview to share your experience with mitochondrial disease.
Update: 11/16/23 — This study is now fully recruited. We’ll adjust this link should it reopen. 

  • Goal: To understand the journey and experiences of patients and caregivers of patients living with mitochondrial disease.
  • Why participate? Your stories and opinions will help industry partners gain a better understanding of the experiences of living with mitochondrial disease.
  • Participants should have two or more of the following symptoms, muscle weakness, difficulty eating, chewing or swallowing, difficulty breathing, loss of functional independence or motor milestones, facial weakness, including ptosis.
  • Participants will receive compensation for their time upon completion of the study.