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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 MaryBeth Hollinger RN MSN, PO Box 51474, Boston, MA 02205.   


Upcoming or Currently Recruiting Clinical Trials for Mitochondrial Disease

Last updated May 19, 2017

ID Number


Study Focus







An Observational Study of Patients With Primary Mitochondrial Disease (SPIMM-300) (RePOWER)

NOTE: The site list will grow as Stealth activates each location on a rolling basis. Stay tuned for more information in late March.

People ages 16-65 with primary mitochondrial diseaseStealth BioTherapeutics Recruiting

Efficacy Study of GS010 for the Treatment of Vision Loss up to 6 Months From Onset in LHON Due to the ND4 Mutation (RESCUE)

 LHON GenSight Biologics Recruiting


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

Ongoing but not recruiting


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



A Study to Evaluate the Safety, Tolerability, and Efficacy of Subcutaneous Injections of Elamipretide (MTP-131) in Subjects With Genetically Confirmed Mitochondrial Disease Previously Treated in the Stealth BioTherapeutics SPIMM-201 Study (MMPOWER-2)


Patients with genetically confirmed mitochondrial disease

Stealth BioTherapeutics

Ongoing but not recruiting


Anesthesia in Patients With Mitochondrial Disease

Children up to 17 years oldThe University of Texas Health Science Center, Houston Recruiting



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



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




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



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



Safety evaluation of gene therapy GS010 in LHON patients

LHON due to G11778A mutation – 18+ years of age

GenSight Biologics – Paris, France

Ongoing but not recruiting


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




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

Enrolling by invitation only


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


Expanded access is currently available for this treatment.


Longitudinal Study of Mitochondrial Hepatopathies (MITOHEP)

Hepatic respiratory chain or fatty acid oxidation disorders

National Institute of Diabetes and Digestive and Kidney Diseases



Magnetic Resonance Imaging (MRI) Muscle Phenotyping in Mitochondrial Disease (Currently recruiting)

The purpose of the study is to use a new research imaging technique, a kind of magnetic resonance imaging (MRI), to measure important metabolic features of muscle, including mitochondrial function, in people with mitochondrial disease and in healthy individuals ages 18-65.

University of Pennsylvania



Information on Selected Clinical Trials, Studies, and Registries


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

AWaRDS Study: Adults with Rare Disorders Support

What is the study about?

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. Click here for the flyer.

What would I do as a study participant?

There are two ways to participate. 1) You can follow this link to take a 40-minute online survey about your experiences and information and support needs related to your rare disorder (paper forms are available by request). If it is physically difficult to respond, someone may enter your responses for you. 2) During the survey, you can opt to sign up for a second study, which involves an online focus group about the information and psychosocial support needs with others with rare disorders. You must participate in the survey in order to be eligible for the focus group, but the focus group study is not required to participate in the survey. You will be paid $20 for participating in the focus group.

 Who is eligible to participate?

You must be an adult or the age of majority in your state, be able to communicate in English, and have a rare disease or disorder or undiagnosed rare condition. Caregivers who do not have a rare disorder themselves are NOT eligible to participate at this time. A disease is generally considered rare if it affects fewer than 200,000 individuals in the United States or fewer than 1 in 2,000 in Europe. A list of rare diseases can be found here: Because rare disorders are discovered and prevalence estimates change frequently, you may participate even if your disorder does not appear on the list.

What will be done with study findings?

A summary of results wlll be sent to all participants. To help NORD, rare disorder organizations, and healthcare professions that meet the needs of people with rare disorders, results will be shared through reports, conference presentations, scientific publications.

Who are the researchers?

Kathleen Bogart, PhD, Principal Investigator, Assistant Professor of Psychology at Oregon State University, studies psychosocial needs of people with rare disorders and has a rare disorder herself. She also serves on the Board of Directors of a NORD member organization. Contact her or 541-737-1357.

Veronica Irvin, PhD, MPH, Co-Investigator, is Assistant Professor of Public Health at OSU. She has experience analyzing information offered by support organizations.

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.

Clinical Trials

Recruiting LHON Patients for Clinical Trial
GenSight Biologics is conducting a clinical trial to evaluate the efficacy of an investigational gene therapy named GS010, which aims to improve vision in patients who have lost vision in the past 6-months due to LHON. GenSight has extensive experience in gene therapy and drug development, particularly in the field of ophthalmology, and have served in leadership roles at several innovative ophthalmology companies. 
RESCUE, a phase III clinical trial, is actively seeking patients suffering from Leber’s Hereditary Optic Neuropathy (LHON) in the United States and Canada. The purpose of the RESCUE study is to evaluate an investigational gene therapy, GS010, as a potential treatment for the most common variant (ND4/G11778A gene mutation) of LHON. The treatment, is a gene therapy given via a standard intravitreal injection into one eye and a placebo therapy given into the other eye.
Three clinical sites have been selected to treat the patients:
    • Los Angeles
    • Philadelphia
    • Atlanta
Travel costs and other appropriate expenses for taking part in the trial, including those for one accompanying companion, will be supported, in accordance with GenSight Biologics.The treatment, is a gene therapy given via a standard intravitreal injection into one eye and a placebo therapy given into the other eye.
For further information about the RESCUE Study, including inclusion criteria, please visit: