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Clinical Trials, Studies and Registries for Mitochondrial Disease


MitoAction would like to help patients with mitochondrial disorders participate in relevant research studies, clinical trials and registries.  Please check back often for updates.  To submit a study or trial, principal investigators can email an IRB-approved proposal to, or mail to Cristy Balcells RN MSN, PO Box 51474, Boston, MA 02205.   


Upcoming or Currently Recruiting Clinical Trials for Mitochondrial Disease

Last updated September 25, 2015

ID Number


Study Focus







A Long-Term Extension Study of RP103-MITO-001 to Assess RP103 in Children With Inherited Mitochondrial Disease


Children between 2-17 years of age with genetically diagnosed mitochondrial disease

Raptor Pharmaceuticals



Inherited Retinal Degenerative Disease Registry


Kearns-Sayre Syndrome and other inherited retinal degenerative diseases


Foundation Fighting Blindness Clinical Research Institute



MNGIE Allogeneic Hematopoietic Stem Cell Transplant Safety Study (MASS)


Patients 5 – 55 years of age who have been identified as having MNGIE by genetic testing and/or reduced thymidine phosphorylase levels

Columbia University



A Study of Bezafibrate in Mitochondrial Myopathy


Adult patients 18-64 years of age with confirmed mt.3243G>A mutation and evidence of myopathy


Newcastle-upon-Tyne Hospitals NHS Trust

Not yet recruiting


Bendavia (MTP-131) in people ages 16-65 years with Mitochondrial Myopathy

Adult patients 16-65 years with mitochondrial myopathy and genetically-identified disease

Stealth BioTherapeutics




Does clinical treatment of mitochondrial dysfunction impact Autism Spectrum Disorder?

Children between 3-12 years of age with a diagnosed Autism Spectrum Disorder

Drexel University

Not yet recruiting


Survey on Supplement Use in Mitochondrial Disease

(1) NAMDC Clinical Registry or RDCRN Contact Registry participant; and (2) Diagnosis of a mitochondrial disease confirmed by either electron transport chain abnormalities or molecular testing.


University of South Florida



Glycemic Index in Mitochondrial Disease


Patients 7-65 years of age with mitochondrial diseases, from existing observational cohort study and/or CHOP Genetics/Metabolism clinic


University of Pennsylvania/

Children’s Hospital of Philadelphia




RTA 408 Capsules in Patients With Mitochondrial Myopathy – MOTOR

Adult patients 18-75 with mitochondrial myopathy and genetically-identified disease

Reata Pharmaceuticals




Cyclosporine in acute phase of LHON

Confirmed LHON mutation plus recent loss of vision (<6 months)

University Hospital, Angers, France



MRI Study - Chronic Progressive External Ophthalmoplegia (CPEO)


Danish patients between 18-80 years of age with verified single large-scale mtDNA deletions and chronic progressive external ophthalmoplegia.


Rigshospitalet, Denmark



Safety Study of Adeno-associated virus vector for LHON gene therapy

LHON due to G11778A mutation (LHON GTT) and 18-60 years of age

University of Miami



MRI muscle phenotyping in mitochondrial disease

Genetically diagnosed mitochondrial disease and healthy controls

University of Pennsylvania



Phase 2 Study of EPI-743 in Children With Pearson Syndrome

Patients with Pearson Syndrome up to 18 years of age with a genetically confirmed diagnosis

Edison Pharma

Ongoing, Not Recruiting Participants


Safety evaluation of gene therapy GS010 in LHON patients

LHON due to G11778A mutation – 18+ years of age

GenSight Biologics – Paris, France



Anesthesia in Patients with Mitochondrial Disease

Pediatric patient diagnosed with mitochondrial dysfunction based on modified Walker criteria and is undergoing procedure

>1 hour

University of Texas Health Science Center, Houston



Open-Label, Dose-Escalating Study to Assess Safety, Tolerability, Efficacy, PK and PD of RP103 in Children With Inherited Mitochondrial Disease

Genetically diagnosed mitochondrial disease

Raptor Pharma



Etiology and early diagnosis of neurodevelop-mental disorders

Children with neurodevelop-mental delays who present to Arkansas Children’s Outpatient Clinics

University of Arkansas



Mitochondrial Dysfunction in Autism Spectrum Disorders

Mitochondrial Disease, Autism Spectrum Disorder, Developmental Delay or Typically Developing Children

Arkansas Children’s Hospital



Phase 2 open-label study evaluating safety and clinical effect of UX007 (Triheptanoin) in patients with long-chain fatty acid oxidation disorders (LC-FAOD)

Confirmed diagnosis of CPT II, VLCAD, LCHAD, or TFP deficiency and at least 6 months of age


Ongoing but not recruiting


Tissue Sample Study for Mitochondrial Disorders


Patients of all ages, race, gender with known or suspected mitochondrial disorders and their carrier relatives (if requested).


Columbia University



NIH MINI Study (Metabolism, Infection and Immunity in Inborn Errors of Metabolism

Urea Cycle Disorders, Fatty Acid Oxidation, Organic Acidemias, Mitochondrial Disease


National Human Genome Research Institute



Natural History Study of MNGIE

5+ years old with Thymidine Phosphorylase defect

Columbia University



Patient contact registry and tissue biorepository

Possible or known mitochondrial disorders






EPI-743 for Metabolism or Mitochondrial Disorders


Children between 2 and 11 years of age who have metabolic or mitochondrial problems.

National Human Genome Research Institute (NHGRI)



Natural History Study – Mitochondrial Disease

6 years and older with documented mtDNA point mutations

Columbia University



Triheptanoin (C7) for Fatty Acid Oxidation Disorders and Glycogen Storage Diseases

VLCAD, CPT1, CPT2, TFP, LCHAD, Glycogen Storage Diseases, Pyruvate Carboxylase

University of Pittsburgh


Compassionate Use


Longitudinal Study of Mitochondrial Hepatopathies (MITOHEP)

Hepatic respiratory chain or fatty acid oxidation disorders

National Institute of Diabetes and Digestive and Kidney Diseases



Information on Selected Clinical Trials, Studies and Registries

Clinical Trials

Stealth BioTherapeutics Bendavia Trial for Mitochondrial Myopathy

Now recruiting adults and teens ages 16-65 years with genetically-confirmed mitochondrial disease and mitochondrial myopathy for the MMPOWER study.

Recruiting at four centers in the U.S.: Akron, Ohio; Boston, Massachusetts; San Diego, California; Pittsburgh, Pennsylvania. The MMPOWER trial is a placebo-controlled, double-blind study to evaluate safety, tolerability, and efficacy of Bendavia to treat mitochondrial myopathy in patients with genetically-confirmed mitochondrial disease. The trial began in the first quarter of 2015 and is enrolling 36 patients across three dose cohorts for a treatment period of seven days. Bendavia is an investigational drug with the potential to modify disease through mitoprotection - the ability to preserve energetics and restore normal energy production in mitochondria, while decreasing oxidative stress. Secondary endpoints measured in this study include change in exercise and cardiopulmonary capacity.  Eligible subjects may be required to stay overnight in the clinical research center for the duration of their study participation lasting up to 7 consecutive days.

For more information, visit Stealth BT.

Edison Pharmaceuticals' EPI-743 and Pearson Syndrome

MOUNTAIN VIEW, Calif., March 17, 2014 /PRNewswire/ -- Edison Pharmaceuticals today announced the initiation of a phase 2 study entitled "A Phase 2 Safety and Efficacy Study of EPI-743 (Vincerinone™) in Children with Pearson Syndrome." The Investigative New Drug application (IND) was approved by the Food and Drug Administration, Office of Hematology and Oncology Products.

The trial is a subject-controlled study design lasting 12 months in which all subjects will receive EPI-743. The primary endpoint of the study is the incidence of episodes of sepsis, metabolic crisis, and hepatic failure. Secondary endpoints include transfusion avoidance and other disease-relevant endocrine and neurological outcome assessments.  Given the rarity of Pearson syndrome, the study is a single arm design, and is being conducted at multiple sites worldwide.

Historically, mitochondrial disease has been described as a group of neuromuscular diseases. This description connotes the energy derangements associated with brain and muscle function. However, today our knowledge of both the molecular and genetic basis of the diseases has significantly grown. It is now established that genetic defects in either nuclear or mitochondrial derived DNA are responsible for a myriad of clinical "mitochondrial" diseases that can affect virtually every organ system. Pearson syndrome is one such example.

Pearson syndrome has an estimated prevalence of less than 1:1,000,000. It is typically diagnosed in infancy, though it can be diagnosed in neonates. Its clinical hallmarks are transfusion-dependent anemia, neutropenia, and pancreatic dysfunction. Given the notable hematologic derangements associated with the syndrome, Edison has submitted the Pearson syndrome IND to the Office of Hematology and Oncology Products. This allows Edison to utilize the division's expertise in the development of drugs for diseases with significant hematological manifestations. 

"Pearson syndrome is a very rare mitochondrial disease with a devastating clinical outcome," stated Mathew Klein, MD, FACS, Chief Medical Officer, Edison Pharmaceuticals. "We are working with our clinical investigator team worldwide to accelerate enrollment in this trial and to systematically explore whether EPI-743 can offer benefit for this patient population."

The FDA has previously granted orphan status to EPI-743 for the treatment of inherited respiratory chain diseases, as well as for Friedreich's ataxia. Edison is currently conducting a number of phase 2A and 2B trials in various mitochondrial disease indications. A complete list of ongoing trials can be found on

Pearson syndrome

Pearson syndrome is an ultra-rare, fatal mitochondrial disease characterized by sideroblastic anemia, pancytopenia and pancreatic dysfunction.  Pearson syndrome results from a mitochondrial deletion, spanning a range of mitochondrial genes. Hematologic features are often present at birth and include severe, transfusion-dependent macrocytic anemia as well as neutropenia and thrombocytopenia.  There is no treatment for Pearson syndrome and most patients die in infancy or early childhood secondary to metabolic disorders or infections. A subset of patients survive past age three and develop a neurological syndrome– resembling Kearn-Sayre syndrome– characterized by ophthalmologic and neuromuscular impairments.


EPI-743 is an orally bioavailable small molecule being developed by Edison Pharmaceuticals for the treatment of children and adults with inherited mitochondrial diseases. EPI-743 is a member of the para-benzoquinone class of drugs. Through a redox-based mechanism, EPI-743 augments endogenous glutathione biosynthesis, which is essential for the control of oxidative stress. EPI-743 is in phase 2 clinical development for the treatment of inherited respiratory chain disorders. Double-blind placebo-controlled trials are ongoing for the following indications: Friedreich's ataxia, Leigh syndrome, Cobalamin C defect, and Undiagnosed Disorders of Oxidation-Reduction.

Edison Pharmaceuticals
Edison Pharmaceuticals is a specialty pharmaceutical company dedicated to developing treatments for children and adults with mitochondrial diseases.

Edison Pharmaceuticals's EPI-743 and Leigh Syndrome

MOUNTAIN VIEW, Calif., Sept. 13, 2012 /PRNewswire/ -- Edison Pharmaceuticals today announced positive results of a recently completed phase 2A study entitled, "Prospective Open Label Study of EPI-743 in Children with Leigh Syndrome (Subacute Necrotizing Encephalomyelopathy)." The study was conducted at the Ospedale Pediatrico Bambino Gesu– the Vatican's children's hospital, Rome, Italy. Ten children with seven differing subtypes of Leigh syndrome, ranging in age from 1-13 years, were treated with EPI-743. All ten children exhibited reversal of disease progression as measured by four different disease-relevant metrics. The clinical response was durable over 180 days. No significant safety events were observed.The results of the clinical trial were published on-line September 10, 2012 in the journal Molecular Genetics and Metabolism.Findings obtained in this prospective phase 2 controlled study confirm previous clinical results obtained in the United States and Europe.Leigh syndrome is an inherited lethal, progressive, predominately pediatric, neuromuscular disorder for which there are no approved treatments. Initially described in 1951, the hallmarks of the disease include bilateral necrosis (death) of central nervous system regions responsible for the control of breathing and other neurologic functions. Leigh syndrome belongs to a large family of disorders identified as "mitochondrial disease." The disorders share as a common biochemical feature defects in cellular energy metabolism. EPI-743 is an orally bioavailable small molecule being developed by Edison Pharmaceuticals for the treatment of Leigh syndrome and other inherited mitochondrial diseases. EPI-743 is a member of the para-benzoquinone class of drugs. It serves as a cofactor for the novel drug target – NADPH quinone oxidase 1 (NQO1). Through a redox-based mechanism, EPI-743 augments endogenous glutathione biosynthesis– essential for the control of oxidative stress.Results obtained in this trial represent the first published report of disease reversal in an otherwise progressive and fatal neurological disease. Edison Pharmaceuticals is a specialty pharmaceutical company dedicated to developing treatments for children with orphan mitochondrial diseases.  

Raptor Pharmaceuticals' RP-103 for Leigh Syndrome

Leigh syndrome is a severe neurological disorder caused by genetic defects in mitochondrial or nuclear DNA affecting respiratory chain function that typically results in death within the first decade of life. The condition causes increased production of reactive oxygen species which disrupts mitochondrial electron transport and affects cellular function in a variety of tissues. Typically observed during the first year of life, Leigh syndrome is characterized by a failure to thrive, lack of coordination, involuntary and sustained muscle contraction, muscle wasting, and multiple organ failure. The incidence of Leigh syndrome in the U.S. is estimated to be 1 in 40,000 newborns.

On December 10, 2013, Raptor submitted an IND to the U.S. FDA for the clinical development of RP103 as a potential treatment for Leigh syndrome and other mitochondrial disorders. The RP103-MITO-001 trial is designed to evaluate the safety, tolerability and efficacy of RP103 in patients with genetically confirmed Leigh syndrome and other mitochondrial disorders. The clinical plan includes an open label, 24 week, Phase 2b study in 32 patients (up to a maximum of 64 patients).

Patients with Leigh syndrome are expected to comprise two-thirds of the enrolled population in the study. Initiation of the clinical trial is planned for the first quarter of 2014 at four clinical sites in the U.S. Based on an adaptive design statistical plan, Raptor will conduct two interim analyses, after 12 patients and then 24 patients have completed the study to determine final sample size. The primary endpoint of the study will be the change from baseline in the Newcastle Pediatric Mitochondrial Disease Scale (NPMDS) at 24 weeks. Secondary endpoints will include observations of myopathy, dystonia, seizures, motor development, dyskinesia, quality of life, and activities of daily living. Interim results from the initial 12 patients are expected by the end of 2014.

 The European Union Clinical Trials Register allows you to search for protocol and results information on: 

  • interventional clinical trials that are conducted in the European Union (EU) and the European Economic Area (EEA);
  • clinical trials conducted outside the EU / EEA that are linked to European paediatric-medicine development.


Ultragenyx LC-FAOD survey

Ultragenyx is conducting a survey to understand how LC-FAOD impacts people’s lives. If you have LC-FAOD or care for someone with LC-FAOD, you are invited to take the survey at

The NIH MINI Study: Metabolism, Infection and Immunity in Inborn Errors of Metabolism 

A new National Institutes of Health-sponsored study to learn about the function of the immune system in patients with inborn errors of metabolism (IEM), especially Mitochondrial Disorders, has been announced. Infections can exacerbate underlying mitochondrial dysfunction. The enzymes deficient in Mitochondrial Disorders may also be deficient in immune organs or cells, and we wonder whether this can affect immune system function.

The NIH MINI Study( is an exciting new study at the NIH Clinical Center ( The main goal of this study is to learn about the function of the immune system in metabolic disorders, especially Mitochondrial Disorders. Participants will be invited to the NIH Clinical Center in Bethesda, MD for an evaluation. Travel and lodging will be provided for patients and their families. Additional visits may be suggested dependent upon study findings and the level of subject participation. The visits will typically be 2 days long. At the first visit, a physical exam will be performed and a detailed nutritional and immunologic assessment done for all study participants. As part of the assessment, we will measure whether or not you or your child’s immune system responded appropriately to childhood vaccinations and naturally acquired infections. Additional tests may include:

  • body composition testing
  • energy expenditure testing
  • nutritional assessment

To be eligible, participants must:

  • Be at least 2 years of age
  • Have a definitive diagnosis of a Mitochondrial Disorder
  • Be able to travel to the NIH Clinical Center in Bethesda, MD

Results of all clinical testing will be provided to the participant and if desired, their home medical teams. Research findings, when available, will also be communicated to participants. The NIH MINI team is available to discuss eligibility for this protocol with anyone that may be interested in participating and welcomes all inquiries.  In order to participate in the study, please contact Peter J. McGuire, MS, MD or the MINI study coordinator by phone or by email.  See contact information below.

Peter J. McGuire, MS, MD, Principal Investigator, Metabolism, Infection and Immunity in IEM, National Human Genome Research Institute, National Institutes of Health

Phone: 301-451-7716


The NIH MINI Study, Study Coordinator: Janet Shiffer, NP

Phone: 301-451-9145


Click here for a flyer on the study.

Click here for a letter from the NIH regarding the MINI study and mitochondrial disorders.

Click here for information from the NIH regarding flu season, mito and other inborn errors of metabolism.

Investigation of New Diagnostic and Monitoring Tool for Mitochondrial Diseases

Dr. 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.

Franciscan Helps Families Connect Parent Project

The Franciscan Helps Families Connect parent project is designed to help parents of children with complex medical conditions communicate the challenges and successes they encounter in obtaining their child’s medical services.

Jointly developed by dedicated parents and Franciscan Hospital for Children and Kennedy Day School staff, the goal of the project is to:

  • Identify the issues and barriers parents face in caring for their child with a complex medical condition.
  • Engage enrolled parents to share their wisdom, insights and coping strategies.
  • Combine parent responses to educate relevant healthcare providers about the challenges these parents face.
  • Direct future efforts to fix the parent-identified problems through research or advocacy.
As a parent of a child with medical complexity, you have a unique perspective on healthcare delivery and the systems of care available for your child. As your child’s most important care provider and advocate, your voice must be heard. Please enroll now and lend your voice to this very important project.  For more information, please review this downloadable letter or click here to be connected to the project website.  



 Massachusetts General Hospital Clinical Registry and BioRepository

Dr. Katherine Sims and Dr. Amel Karaa from Massachusetts General Hospital currently maintain a patient Clinical Registry and BioRepository for mitochondrial disorders from patients they see personally as well as those who choose to participate but are self-referred or referred by another medical professional.  Dr. Sims started this institutional IRB-approved Registry formally in 2003 in order to better characterize the clinical features of human mitochondrial disorders and to develop a Biobank resource.  Drs. Sims and Karaa have continued to actively recruit and enroll patients/family members for inclusion in the Clinical Registry and BioRepository and welcome requests for inclusion from patients seen at other medical centers as well.

Within the Clinical Registry and BioRepository, researchers at MGH collect and store, in a password-protected database, standardized patient clinical information (both cross-sectional and longitudinal when available), family history and laboratory data. These patients, their clinical histories and biomaterials (DNA, lymphoblasts, fibroblast culture, plasma, and/or autopsy tissues as available and donated), serve as a resource for research collaborators at MGH, across the US and internationally when shared through appropriate institutional IRB-approved protocols.  Patient participation includes review of the IRB-approved informed consent document, collection of clinical information, transfer of medical records, and possible storage of patient samples in the BioRepository.

Patients with mitochondrial disorders interested in participating in MGH's Clinical Registry and BioRepository should contact research coordinator Nancy Slate at or (617)643-6451.  

Mitochondrial Disease Community Registry - United Mitochondrial Disease Foundation

The Mitochondrial Disease Community Registry (MDCR) was launched in August 2014 as a patient-populated repository of opinions, health and genetic information. The registry aims to globally identify and characterize patients, caregivers and family members of those affected by mitochondrial disease, thereby creating a natural history of the disease from the patient perspective. MDCR is designed to be complementary to clinician-populated registries such as the NAMDC Patient Data Registry and Biorepository as well as others. A central feature of MDCR is that registrants have full control of privacy settings for their profile, determining who can see and analyze their de-identified data. Registrants also control who may anonymously contact them regarding studies and trials of potential interest. These privacy settings may be changed at any time.  For more information, please visit UMDF.

Mayo Clinic BioBank seeks assistance 

A new research resource at Mayo Clinic in Rochester, MN -- the Mitochondrial Disease Biobank -- is the first biobank in the country specifically developed to study mitochondrial diseases. Mayo Clinic is collaborating with MitoAction in hopes of identifying individuals who may be interested in participating in the Biobank.

In general, individuals who have or are suspected to have a mitochondrial disease are eligible to donate to the Mitochondrial Disease Biobank. Their family members may also be appropriate participants. Click here for more information.

North American Mitochondrial Disease Consortium

The North American Mitochondrial Disease Consortium (NAMDC) was established to create a network of all clinicians and clinical investigators in North America (US and Canada, with the hope of including Mexico in the future) who follow sizeable numbers of patients with mitochondrial diseases and are involved or interested in mitochondrial research. The NAMDC has created a clinical registry for patients, in the hopes of standardizing diagnostic criteria, collecting important standardized information on patients, and facilitating the participation of patients in research on mitochondrial diseases.

For the study of any rare disease, the collection of specimens is a major challenge. The NAMDC is establishing a repository for specimens and DNA from patients with mitochondrial diseases, in order to make materials easily available to consortium researchers.

Finally, the NAMDC will conduct clinical trials and other kinds of research. The consortium makes biostatisticians, data management experts, and specialists in clinical research available to participating physicians, so that experiments conducted through the NAMDC can make the most efficient and innovative use of the generous participation of patients.

To learn more about the NAMDC registry, please click here.