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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 email@example.com or mail to MaryBeth Hollinger RN MSN, PO Box 51474, Boston, MA 02205.
Upcoming or Currently Recruiting Clinical Trials for Mitochondrial Disease
Last updated Feb. 21, 2017
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
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
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
Ongoing but not recruiting
Does clinical treatment of mitochondrial dysfunction impact Autism Spectrum Disorder?
Children between 3-12 years of age with a diagnosed Autism Spectrum Disorder
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
Bendavia (MTP-131) in people ages 16-65 years with Mitochondrial Myopathy
Adult patients 16-65 years with mitochondrial myopathy and genetically-identified disease
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.
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
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
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
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).
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
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
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, includingmitochondrial function, in people with mitochondrial disease and in healthy individuals. (Mitochondria are tiny organelles that generate energy for the body.)
|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 www.FAODsurvey.com.
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 (http://www.genome.gov/mini/) is an exciting new study at the NIH Clinical Center (clinicalcenter.nih.gov). 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
The NIH MINI Study, Study Coordinator: Janet Shiffer, NP
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 firstname.lastname@example.org 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.
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 email@example.com or (617)643-6451.
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.
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.