Current Clinical Trials & Studies

Trial of Dichloroacetate in Pyruvate Dehydrogenase Complex Deficiency: (DCA/PDCD)

University of Florida  is conducting a research study  for a pivotal phase 3 trial of treatment with the investigational drug dichloroacetate (DCA) in young children with deficiency of the pyruvate dehydrogenase complex (PDC).  Learn more here.

Mayo Clinic Seeks Volunteers for Research Study

Mayo Clinic is seeking volunteers with mitochondrial disorders (mitochondrial myopathy, chronic progressive external ophthalmoplegia (CPEO), or Kearns-Sayre), ages 15-80, to participate in a research study.  Learn more here.

Reneo Pharmaceuticals has initiated a clinical study in the U.S. for patients with fatty acid oxidation disorders.
For more information, click here.

 Primary Mitochondrial Myopathy Clinical Trial Update, the Importance of the Voice of the Patient and a Review of the Healthcare Costs Associated with the Management of Mitochondrial Disease.

Additional information and details can be found here.

Mito-Epigen Program

The Mito-EpiGen Program focuses on an array of inherited mitochondrial diseases, such as Mitochondrial Encephalopathy Lactic Acidosis and Stroke-like episodes (MELAS), Maternally Inherited Leigh Syndrome (MILS), Leber’s Hereditary Optic Neuropathy (LHON), and PolG-related mitochondrial diseases. Patients are being recruited to participate in our pre-clinical studies.

The Mito-EpiGen Program entails an active collaboration between basic researchers and clinicians to design novel therapeutic approaches to mitigate the chronic energy deficit in patients. Dr. Gropman performs skin biopsies on patients who have been genetically diagnosed mitochondrial disorder. The Chiaramello laboratory then derives fibroblasts from the skin biopsy to test an array of small molecules with therapeutic potential aimed at reducing the load of diseased mitochondria and alleviating the clinical symptoms in patients.

For information regarding current clinical trials for LHON patients, please click here to be taken to a page that has that information.

Trial of Erythrocyte Encapsulated Thymidine Phosphorylase In Mitochondrial Neurogastrointestinal Encephalomyopathy (TEETPIM)

The purpose of this study is to determine the safety, tolerability, action and effectiveness of repeated doses of Erythrocyte Encapsulated Thymidine Phosphorylase (EE-TP) for the treatment of patients with Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE).

MNGIE is a rare inherited disease that mainly affects the digestive and nervous system and is caused by a defect in the function of an enzyme called thymidine phosphorylase. This loss of function causes certain molecules (thymidine and deoxyuridine) to accumulate in cells which leads to toxic damage to these cells. The disease can be confirmed by detecting variations (mutations) in the thymidine phosphorylase gene (TYMP). Currently there are no specific treatments for patients with MNGIE, whose effectiveness has been shown through clinical trials. The potential treatment for MNGIE offered in this trial is an enzyme replacement therapy, i.e. replacing functional thymidine phosphorylase. This treatment uses the patients own red blood cells in which thymidine phosphorylase is encapsulated to produce EE-TP (the study drug). EE-TP is created using a machine named a Red Cell Loader (RCL) and is then administered back to the patient

See details here.

[11C]PK11195 PET as a Biomarker to Diagnose and Monitor Natural History in Mitochondrial Disease
United Kingdom
This is a small study to see if researchers can use the molecule [11C]PK11195 to diagnose and study the progression of mitochondrial disease.
See more information and details about this study here.  This study seeks patients 18-70 years old, male or female with the following: 

  • Mitochondrial disease caused by mutations in mtDNA , e.g., MELAS or LHON
  • Mitochondrial disease caused by mutations in SPG7 or POLG genes

The Role of Nicotinamide Riboside in Mitochondrial Biogenesis

United Kingdom

The aim of this study is to investigate if the same B vitamin, Nicotinamide Riboside, can increase energy production and reduce symptoms in humans with mitochondrial disease.   This study seeks patients 18-70 years old, male or female with mitochondrial disease caused by a single mitochondrial DNA deletion, as well as a diagnosis of Progressive External Ophthalmoplegia (PEO) and exercise intolerance.   See details of this study here.


Pediatric Mitochondrial Disorders Clinical Trial 
BioElectron Technology Corporation, formerly Edison Pharmaceuticals (BioE-743, formerly EPI-743)
BioE-743 is administered orally, passes into the brain, and works by regulating key enzymes involved in the synthesis and regulation of energy metabolism. A pediatric-focused Phase 2b trial of BioE-743 was completed at the end of 2014 and BioElectron continues to analyze trial data, meet with regulatory authorities worldwide and prepare for a next set of clinical trials across a number of mitochondrial disorders.
Not actively recruiting — Check here for information.

Adult Mitochondrial Disorders Clinical Trials

Reata Pharmaceuticals (RTA 408, omavaloxolone)– In preclinical studies RTA 408 was shown to target inflammatory, metabolic, and mitochondrial pathways by inducing Nrf2 and suppressing NF-kB. Unlike other drugs in development for the treatment of mitochondrial disease, RTA 408 directly affects mitochondrial function and energy production in muscle cells. In 2015, Reata launched a Phase 2 clinical trial (the MOTOR study) to evaluate the efficacy, safety, and pharmacodynamics of RTA 408 in the treatment of adult patients with mitochondrial myopathy. Exercise capacity is utilized in MOTOR as the primary efficacy endpoint through measuring change in peak work during maximal exercise testing. Currently patients are being enrolled across 9 sites in the dose-ranging portion of this 2-part study. Initial results on the dose-ranging portion (part 1) are expected in early 2018.
Actively Recruiting – check here for information

Stealth BioTheapeutics
(MTP-131, elamipretide)- MTP-131 is a small molecule peptide designed to penetrate the cellular and outer mitochondrial membrane and target cardiolipin, which is found exclusively in the inner mitochondrial membrane. MTP-131 has been shown to positively impact dysfunctional mitochondria in nonclinical studies, with no effect in healthy mitochondria. In June 2016 Stealth reported positive preliminary findings on topline data from a Phase 1/2 study to evaluate safety, tolerability and efficacy of MTP-131 to treat mitochondrial myopathy in adult patients with genetically-confirmed mitochondrial disease (MMPOWER study). A follow-on Phase 2 trial (MMPOWER2) focused on subcutaneous efficacy launched returned positive data in 2017. In anticipation of a Phase 3 trial in 2018, Stealth has launched a 1-year observational study (RePOWER) from which Phase 3 participants will be recruited.
Actively Recruiting  – check here for information

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

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 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 2/6/15
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.