Current Clinical Trials & Studies


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For Frequently Asked Questions about this study, click here.


Recently, at the 2017 UMDF Mitochondrial Medicine Symposium, Stealth BioTherapeutics shared very encouraging results from its second clinical trial for primary mitochondrial myopathy, the MMPOWER-2 study. Stealth is a Boston-based biopharmaceutical company developing therapeutics to treat mitochondrial dysfunction; its lead drug under investigation is elamipretide (previously known as Bendavia). Primary mitochondrial myopathy (PMM) is a genetically-acquired mitochondrial disease characterized by signs and symptoms of myopathy (debilitating muscle weakness, easy fatigability, exercise intolerance and pain). The Phase 2 MMPOWER-2 trial was conducted to evaluate safety, tolerability and efficacy of treatment using elamipretide in 30 adult (ages 16-65) patients with PMM. An overall assessment of the top-line MMPOWER-2 results showed benefit across multiple endpoints and is supportive of continuation toward a Phase 3 study in this patient population.

Patients enrolled in MMPOWER-2 previously participated in Stealth’s MMPOWER trial, designed to assess dosing, which demonstrated a dose-dependent improvement in distance walked in the 6-Minute walk test (6MWT) after 5 days of once daily intravenous administration of elamipretide or placebo. In MMPOWER-2, patients were randomized to once daily subcutaneous administration of elamipretide or placebo for a longer period of time (four weeks), and then, after a washout period, received the opposite treatment during a second four-week dosing period.  Patients, their doctors and investigators at Stealth were unaware of which group patients belonged to during the trial and the subsequent assessments.

This type of study design, known as a randomized, double-blind, placebo-controlled crossover study, is considered a “gold standard” in clinical trials evaluating investigational drugs. Randomized controlled trials can be challenging in rare and orphan diseases because there simply are not as many patients available to participate, and there tend to be as many differences as there are similarities between patients who may have the same diagnosis (also known as heterogeneity).
Multiple endpoints, or outcomes, were considered and evaluated during the MMPOWER-2 trial in addition to the 6MWT, including the Neuro-QoL (Quality of Life in Neurological Disorders) measurement system, and a new patient-reported outcome tool, the Primary Mitochondrial Myopathy Symptom Assessment (PMMSA), developed by Stealth specifically for this patient population. Other tools and measures for safety, tolerability and functional assessment were also applied.

Chuck Mohan, Executive Director of the United Mitochondrial Disease Foundation, comments “Clinical trials for rare diseases are challenging and we are very supportive of Stealth for their efforts to evaluate potential therapeutics in a meaningful, rigorous and scientific manner. The progress of the MMPOWER-2 trial provides hope to our global mitochondrial disease community. ”
The primary objective of the study was to evaluate the effect of a single daily subcutaneous dose of elamipretide for four weeks on a PMM patient’s walking distance, as measured by the 6MWT. Patients receiving elamipretide walked an average of 20 meters more than those receiving placebo at the end of the 4-week dosing period. In addition, those patients who were the most impaired at baseline demonstrated the greatest improvement.

Data gathered and analyzed for several other secondary endpoints is also informative and promising. Treatment with elamipretide resulted in statistically significant and clinically meaningful improvements in the Neuro-QOL Fatigue Short Form score and in the PMMSA Total Fatigue score. In other words, patients showed overall improvement in fatigue and in symptoms which impacted their daily quality of life and functional abilities.  Patients also reported a statistically significant improvement in the PMMSA identified symptom most bothersome to them individually, such as tiredness, muscle weakness, muscle pain, abdominal discomfort, vision problems, or balance problems. Data also continued to demonstrate safety and tolerability of elamipretide, with the most common side effect being redness or itching at the injection site.

Kira Mann, CEO of MitoAction, is enthusiastic about these findings. “These results are very promising for patients struggling with fatigue, pain, and weakness due to mitochondrial myopathy. On behalf of patients and families with mitochondrial disease, we are excited about this data and continue to be supportive of future elamipretide studies.”

Stealth continues to be committed to developing mitochondrial therapeutics and engaging with the mitochondrial disease clinician and patient/family community. In March of 2017, Stealth initiated RePOWER, a prospective, observational study of patients with mitochondrial myopathy. RePOWER will assess approximately 300 PMM patients, ages 16-65, and will gather information about current symptoms, quality of life, functional abilities and medical history. Findings from MMPOWER, MMPOWER-2 and RePOWER will together help establish and inform a Phase 3 trial to continue to evaluate the potential efficacy, safety and tolerability of elamipretide. Stealth plans to launch its Phase 3 trial around the end of this year.

The executive director of the Foundation for Mitochondrial Medicine, Laura Stanley, has a child with mitochondrial disease. She states, “Results such as these demonstrate why it is so important for every patient and family with primary mitochondrial disease to be involved in these very important and groundbreaking studies. Together we are pioneering this field.”

Pearson Study at Cleveland Clinic
The Cleveland Clinic is excited to announce that Dr. Sumit Parikh is able to enter subjects remotely into the Pearson Natural History study even if they are not able to visit Cleveland. You do not have to be a patient of Dr. Parikh or Cleveland Clinic to be a part of the study. The Pearson Natural History study is an observational study to obtain information on the natural course of Pearson syndrome through collection of data from your child’s medical records every 6 months.  If enrolling remotely, Dr. Parikh will be unable to provide medical advice.  For any questions about the Pearson Natural History study, please contact research coordinator, Irys Caristo, at 216-444-0173 or 800-223-2273, extension 40173.

AWaRDS Study: Adults with Rare Disorders Support

Oregon State University, in partnership with the National Organization for Rare Disorders, this will be the first large-scale study about the information and psychosocial support needs of people living with rare disorders. The purpose of this research study is to assess these needs, from the perspectives of people with a variety of rare disorders, to find similarities and differences across disorders. To ensure that results reflect the diversity of the rare disease community, it is crucial that as many people living with a rare disease as possible take part.  For details on participation, click here for the flier.

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 $275.00.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


There is an active clinical trial recruiting patients with mitochondrial myopathy. The trial is a double blind, placebo-controlled, multi-center  Phase 2 study of the safety and efficacy of omaveloxolone (RTA 408) in mitochondrial myopathies. To participate, you must be between the ages of 18 and 75, exercise intolerant, have a genetically confirmed mitochondrial disease (testing may be provided) and are willing to discontinue some medications. You must not be pregnant, planning a pregnancy, or breastfeeding. In this trial, a group of external clinical experts (physicians, researchers, and patient advocates) referred to as a DSMB (data safety monitoring board) reviews all unblinded data on a monthly basis to check on the progress of the study and make recommendations to the Sponsor to protect patient safety. Learn more about this clinical trial here. Or, download this important informational brochure here.

POSTED 12/15/16
Stealth BioTherapeutics
On December 6, 2016, Reenie McCarthy participated in an online presentation to the mitochondrial disease community to provide an update on Stealth BioTherapeutics’ clinical development program for primary mitochondrial myopathy. Following is a summary of the information presented during this event. finalmitoaction-webinar-summary12-15-16

Posted 9/4/15
Mitochondrial Disease Research m.3243A>G Mutation Carriers and Maternal Relatives

Mitochondrial Disease

·   Mitochondria are small cellular organelles that are responsible for making energy.

·   Mitochondria contain DNA that instructs our cells to make some of the “machinery” needed for energy production.

·   Genetic mutations in the mitochondrial DNA (mtDNA) can result in serious health problems.

·   A common genetic mutation is the m.3243A>G which can result in a serious disorder calledMitochondrial Encephalopathy Lactic Acidosis and Stroke-like Episodes (MELAS).

·   Many of the m.3243A>G carriers do not have MELAS but may have clinical symptoms caused by the mutation such as hearing loss, gastrointestional issues and diabetes.

Purpose of the study: To improve our understanding of the implications of the m.3243A>G mutation through MRI/MRS, cognitive studies, blood and urine biomarkers, heteroplasmy levels and motor skills testing. This information could be used to identify future treatment options.

Where does this study take place?  You will travel to New York City, NY to attend a 1 day outpatient research visit.   Patients unwilling to travel may participate by providing blood and urine samples only at their local Quest Laboratory.

Who Qualifies?  Known carriers of the m.3243A>G mutation and their maternal relatives (carrier status is not required) and controls (non-carriers). 

BenefitsThis study may not benefit you directly, but may advance knowledge about mitochondrial disease caused by the m.3243A>G mutation.  The results of this study may help develop treatment options.

Privacy: Your study related samples and data will be given a unique identifying code that does not include any personally identifying information about you.

 Cost : Travel and hotel costs are covered by the study. Research procedures are free.

To participate, contact Kris Engelstad MS, CGC.  1-212-305-6834 or email

Posted 4/22/15
Reata Pharmaceuticals, Inc.
Recruiting Patients With Mitochondrial Myopathy

RTA 408 is a potent activator of Nrf2 and inhibitor of NF κB (nuclear factor kappa-light-chain-enhancer of activated B cells), and thus induces an antioxidant and anti-inflammatory phenotype. Several lines of evidence suggest that Nrf2 activation can increase mitochondrial respiration and biogenesis. Collectively, available data suggest that the ability of RTA 408 to activate Nrf2 and induce its target genes could potentially improve muscle function, oxidative phosphorylation, antioxidant capacity, and mitochondrial biogenesis in patients with mitochondrial myopathy.

Posted 3/25/15
Recruiting children and adults with PDC
Physicians at University Hospitals Case Medical Center in Cleveland, Ohio are currently recruiting children and adults with pyruvate dehydrogenase complex (PDC) deficiency and other disorders of pyruvate metabolism for a research study seeking to better understand the genetic causes, symptoms, usefulness of current treatments, and outcomes for these disorders. The research project involves completing a questionnaire about the individual or family’s medical history and experiences with PDC deficiency or other disorder of pyruvate metabolism, review of medical records by the researchers, and in some cases, genetic testing. No experimental treatments will be given as part of the study, and travel is not necessary. If you are interested in learning more about this research study, please contact Audrey Lynn, study coordinator, at 216-844-3936 option 2.

POSTED 2/13/15
Stealth BioTherapeutics Clinical Trial for patients with Mitochondrial Myopathy

POSTED 2/6/15
Participate in this important survey for parents of children with complex medical needs.

POSTED 01/05/15


Mitochondrial Disease Study at the Children’s Hospital of Philadelphia and the University of Pennsylvania.

POSTED 01/05/15

LHON Research Project Mood Study

POSTED 11/14


Center for Embryonic Cell and Gene Therapy

POSTED 11/03/14

This two part study will evaluate the efficacy, safety, and pharmacodynamics of RTA 408 in the treatment of patients with mitochondrial myopathy.
For information about this study and eligibility, click here.

POSTED ON 6/14/14
Mitochondrial myopathy patients needed for a new study evaluating the efficacy of a new, non-invasive screening and diagnostic tool.

Dr. Fran Kendall and VMP Genetics in Atlanta and the University of Georgia are looking to recruit patient subjects for a research study to investigate a new diagnostic and monitoring tool for mitochondrial diseases. The study design will include non-invasive investigative tools. (In other words, nothing will require sedation or considerable discomfort.) Due to our study hypothesis, we are looking to specifically recruit patients with clear mitochondrial myopathies to include those with CPEO/ptosis with mtDNA deletions, patients with documented molecular or OXPHOS biochemical abnormalities with ragged red fibers, or chronically increased CPK levels and/or episodes of rhabdomyolysis. The study design allows the testing to be completed in Dr. Kendall’s office or at the testing lab at UGA. There is a small travel stipend that could assist with your travel expenses. Although University and IRB research policy dictates that no additional information can be provided at this juncture to prevent bias in ascertaining subjects for the study, please contact Dr. Kendall through VMP Genetics at  if you are interested in participating and additional information and details will be provided to you by the study coordinator, Hannah Bossie, at UGA.

POSTED ON 2/12/14

Cleveland Clinic and NAMDC
Natural History Study for Pearson Syndrome

Cleveland Clinic and the North American Mitochondrial Disease Consortium are recruiting patients with current or prior Pearson syndrome for a Natural History Study. The purpose of the study is to see how the condition progresses as the patient gets older.  We hope to better understand the natural evolution of the disease, why it is more severe in some patients and find potential areas to intervene with treatment. Patients will require annual or biannual visits to Cleveland Clinic for a medical evaluation along with a single blood draw. The study plans to follow patients for at least 3 years.

Dr. Sumit Parikh is the principal investigator in collaboration with Dr. Michio Hirano at Columbia and Dr. Suneet Agarwal at Boston Children’s. If interested in participating, please contact Dr. Parikh at 216-444-1994.

Baylor College of Medicine and Texas Children’s Hospital

Baylor College of Medicine and Texas Children’s Hospital are recruiting patients withMELAS (mitochondrial myopathy, encephalomyopathy, lactic acidosis, and stroke-like episodes) syndrome for a clinical study. The purpose of this study study is to see how the body handles sugar by measuring the amount of sugar that the body produces and breaks down (glucose metabolism). The results from people who have MELAS syndrome will be compared to those from people who do not have MELAS syndrome. By doing this comparison we may find that people with MELAS syndrome handle sugar differently, which would explain why many develop diabetes.  Adults affected with MELAS syndrome and carrying the 3243 A>G mutation can participate. Subject with MELAS will be admitted once to the General Clinical Research Center (GCRC) at Texas Children’s Hospital for 2 days (1 overnight). Glucose metabolism will be measured by a safe stable isotope infusion technique that involves placing small tubes in veins (IV catheter), blood sampling, and injecting a harmless stable isotope. The principal investigator is Dr. William Craigen. Subjects interested in participation or getting more information can contact Dr. Lisa Emrick at email:, phone: 832-822-4289

Oregon Health & Science University

Oregon Health & Science University is recruiting women to donate eggs to a research study. The study is evaluating new techniques for correcting mitochondrial gene mutations in eggs. To qualify, you must be: