Stay Up to Date! Like us on Facebook  and Twitter  for the latest news and announcements    

Clinical Trials and Studies 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 MitoAction, PO Box 51474, Boston, MA 02205.   


Upcoming or Currently Recruiting Clinical Trials for Mitochondrial Disease

ID Number


Study Focus







MMPOWER-3: This is a multicenter phase 3 randomized, double-blind, parallel-group, placebo-controlled trial to evaluate the safety and efficacy of daily subcutaneous injections of elamipretide in subjects with primary mitochondrial myopathy. This will be followed by an open-label treatment extension.

Mitochondrial Disorder
People aged 16 years to 80 years with Primary Mitochondrial Myopathy
 Stealth BioTherapeutics This study is not yet open for participant recruitment. 

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



North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC)

Mitochondrial Disorders | Mitochondrial Genetic Disorders | Mitochondrial Diseases | Disorder of Mitochondrial Respiratory Chain Complexes | Deletion and Duplication of Mitochondrial DNA

Columbia University | National Institute of Neurological Disorders and Stroke (NINDS)



The Effect of Arginine and Citrulline Supplementation on Endothelial Dysfunction in Mitochondrial Diseases

Mitochondrial Disease

Tawam Hospital



Anesthesia in Patients With Mitochondrial Disease

Mitochondrial Disease

The University of Texas Health Science Center, Houston



GDF-15 as a Biomarker for Mitochondrial Disease

Mitochondrial Disease | Metabolic Myopathy | Muscular Dystrophy

Rigshospitalet, Denmark



Muscle OXPHOS and Nutrient Homeostasis

Mitochondrial Diseases | Obesity

University of Pennsylvania



Mitochondrial Dysfunction in Autism Spectrum Disorder

Autism Spectrum Disorder | Autism | Mitochondrial Disease | Developmental Delay

University of Arkansas | Jane Botsford Johnson Foundation | Arkansas Biosciences Institute (ABI) | UT Health Science Center at San Antonio | St. Christopher's Hospital for Children



A Study of Bezafibrate in Mitochondrial Myopathy

Mitochondrial Disease

Newcastle-upon-Tyne Hospitals NHS Trust | Newcastle University



EPI-743 for Metabolism or Mitochondrial Disorders

Undiagnosed Diseases | Metabolic Disease | Neurology | Myoptahy | Oxidation/Reduction | Mitochondrial Disorders

National Human Genome Research Institute (NHGRI) | National Institutes of Health Clinical Center (CC)




Mitochondrial Diseases | Mitochondrial Myopathies | Mitochondrial Encephalomyopathies | MELAS | MIDD

Khondrion BV | Radboud Center for Mitochondrial Medicine (RCMM) | Radboud University


 NCT03056794 Natural History and Advanced Genetic Study of Pyruvate Dehydrogenase Complex Deficiencies Pyruvate Dehydrogenase Complex Deficiency DiseaseUniversity Hospitals Cleveland Medical Center | Rare Diseases Clinical Research Network | National Institute of Neurological Disorders and Stroke (NINDS) Recruiting
NCT02985710Assessment of Small Fiber Neuropathy in Rare Diseases Using SudoscanSmall Fiber Neuropathy | Fabry Disease | Ehlers Danlos Syndrome | Mitochondrial DiseaseMassachusetts General HospitalRecruiting
NCT01498263Inherited Diseases, Caregiving, and Social NetworksAlzheimer's Disease | Inborn Errors of Metabolism | Mitochondrial Disorders | Undiagnosed DiseasesNational Human Genome Research Institute (NHGRI) | National Institutes of Health Clinical Center (CC)Recruiting
NCT01439854Study of Dapagliflozin on Mitochondrial Dysfunction and Impaired Insulin Signaling/ActionInsulin Sensitivity | Multiple Mitochondrial Dysfunctions SyndromeThe University of Texas Health Science Center at San Antonio | National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)Recruiting
NCT01793168Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at SanfordPlease see page for the list of disorders. Sanford Health | National Ataxia Foundation | International WAGR Syndrome Association | 4p- Support Group | ML4 Foundation | Cornelia de Lange Syndrome Foundation | Stickler Involved People | Kawasaki Disease Foundation | Klippel-Feil Syndrome Alliance | Klippel-Feil Syndrome Freedom | Hyperacusis Research Limited | Hypersomnia Foundation | Kabuki Syndrome Network | Kleine-Levin Syndrome Foundation | Leiomyosarcoma Direct Research Foundation | Marinesco-Sjogren Syndrome Support Group | Mucolipidosis Type IV Foundation | People with Narcolepsy 4 People with Narcolepsy (PWN4PWN) | Soft Bones IncorporatedRecruiting
NCT02838979Trial of Oral Glutamine on Mitochondrial Function in CKDCardiovascular Disease | Sarcopenia | Endothelial Dysfunction | Muscle Mitochondrial Function | Kidney DiseaseUniversity of Washington | New York Medical College | Emory University | Vanderbilt University | National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)Recruiting
NCT02895789Oxidative Capacity and Exercise Tolerance in Ambulatory SMASpinal Muscular Atrophy Type 3 | Mitochondrial MyopathyColumbia University | Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)Recruiting
NCT02596698Mitochondrial Dysfunction, Inflammation, and White Matter Integrity in Youth With Mood DisordersDepression | Bipolar Disorder | Bipolar Disorder Not Otherwise Specified | Unspecified Mood DisorderUniversity of Minnesota - Clinical and Translational Science Institute | Ontario Mental Health FoundationRecruting
NCT02457702Mitochondrial Function in Patients With Severe Liver DiseaseHepatic Insufficiency | HypoalbuminemiaUniversity of Texas Southwestern Medical Center | National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) | National Institutes of Health (NIH)Recruiting
NCT02549703Mitochondrial Dysfunction and Disease ProgressionClinically Isolated Syndrome | Relapsing-Remitting Multiple Sclerosis | Secondary Progressive Multiple Sclerosis | Primary Progressive Multiple SclerosisIcahn School of Medicine at Mount Sinai | Columbia University | The New York Stem Cell FoundationRecruiting
NCT02517307Fatty Acid Oxidation Defects and Insulin SensitivityVery Long-chain Acyl-CoA Dehydrogenase Deficiency | Trifunctional Protein Deficiency | Long-chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency | Medium-chain Acyl-CoA Dehydrogenase Deficiency | Normal VolunteersOregon Health and Science UniversityRecruiting
NCT02255435RTA 408 Capsules in Patients With Friedreich's Ataxia - MOXIeFriedreich AtaxiaReata Pharmaceuticals, Inc. | AbbVie | Friedreich's Ataxia Research AllianceRecruiting
NCT03137355The Leigh Syndrome RegistryLeigh Syndrome | Leigh Disease | Leigh's Necrotizing Encephalopathy | Subacute Necrotizing Encephalomyopathy | Subacute Necrotizing EncephalomyelopathyThe University of Texas Health Science Center, HoustonRecruiting
NCT03059420Genetic Studies of Strabismus, Congenital Cranial Dysinnervation Disorders (CCDDs), and Their Associated AnomaliesCongenital Fibrosis of Extraocular Muscles | Duane Retraction Syndrome | Duane Radial Ray Syndrome | Mobius Syndrome | Brown Syndrome | Marcus Gunn Syndrome | Strabismus Congenital | Horizontal Gaze Palsy | Horizontal Gaze Palsy With Progressive Scoliosis | Facial Palsy | Facial Paresis, Hereditary, Congenital | Third Nerve Palsy | Fourth Nerve Palsy | Sixth Nerve Palsy | Synkinesis | Ocular Motility Disorders | Levator-Medial Rectus Synkinesis | Athabaskan Brainstem Dysgenesis | Tongue Paralysis | Ninth Nerve Disorder | Fifth Nerve Palsy | Seventh Nerve Palsy | Eleventh Nerve Disorder | Twelfth Nerve Disorder | Vagus Nerve Paralysis | Moebius SequenceBoston Children’s Hospital | Howard Hughes Medical Institute | National Eye Institute (NEI)Recruiting
NCT03153293Safety and Efficacy Study of Gene Therapy for The Treatment of Leber's Hereditary Optic NeuropathyLeber Hereditary Optic NeuropathyHuazhong University of Science and Technology | Shiyan Taihe HospitalRecruiting
NCT01694953The Natural History Study of Mitochondrial NeuroGastroIntestinal Encephalopathy (MNGIE)Mitochondrial NeuroGastroIntestinal Encephalopathy (MNGIE)Columbia University | National Institute of Neurological Disorders and Stroke (NINDS)Recruiting
NCT03011541FA Clinical Outcome MeasuresFriedreich Ataxia | Neuro-Degenerative DiseaseChildren's Hospital of Philadelphia | Friedreich's Ataxia Research Alliance | University of RochesterRecruiting
NCT02771379Post Authorisation Safety Study With Raxone in LHON PatientsLeber's Hereditary Optic Neuropathy (LHON)Santhera PharmaceuticalsRecruiting
NCT03011541Stem Cell Ophthalmology Treatment Study IIRetinal Disease | Age-Related Macular Degeneration | Retinitis Pigmentosa | Stargardt Disease | Optic Neuropathy | Nonarteritic Ischemic Optic Neuropathy | Optic Atrophy | Optic Nerve Disease | Glaucoma | Leber Hereditary Optic NeuropathyMD Stem CellsRecruiting
NCT02635269Fat and Sugar Metabolism During Exercise in Patients With Metabolic MyopathyMetabolism, Inborn Errors | Lipid Metabolism, Inborn Errors | Carbohydrate Metabolism, Inborn Errors | Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency | Glycogenin-1 Deficiency (Glycogen Storage Disease Type XV) | Carnitine Palmitoyl Transferase 2 Deficiency | VLCAD Deficiency | Medium-chain Acyl-CoA Dehydrogenase Deficiency | Multiple Acyl-CoA Dehydrogenase Deficiency | Carnitine Transporter Deficiency | Neutral Lipid Storage Disease | Glycogen Storage Disease Type II | Glycogen Storage Disease Type III | Glycogen Storage Disease Type IV | Glycogen Storage Disease Type V | Muscle Phosphofructokinase Deficiency | Phosphoglucomutase 1 Deficiency | Phosphoglycerate Mutase Deficiency | Phosphoglycerate Kinase Deficiency | Phosphorylase Kinase Deficiency | Beta Enolase Deficiency | Lactate Dehydrogenase Deficiency | Glycogen Synthase Deficiency

Rigshospitalet, Denmark

NCT02840669A Study to Characterize the Cardiac Phenotype of Individuals With Friedreich's Ataxia (CARFA Study)Friedreich's AtaxiaAdverum Biotechnologies, Inc. | Annapurna Therapeutics SAS, a wholly owned subsidiary of Adverum Biotechnologies | Weill Medical College of Cornell UniversityRecruiting
NCT02316314Characterization of the Cardiac Phenotype of Friedreich's Ataxia (FRDA)Friedreich's AtaxiaWeill Medical College of Cornell UniversityRecruiting
NCT01599286Short-term Outcome of N-Carbamylglutamate in the Treatment of Acute HyperammonemiaPropionic Acidemia, Type I and/or Type II | Methylmalonic Acidemia | Carbamoyl-Phosphate Synthase I Deficiency Disease | Ornithine Carbamoyltransferase DeficiencyMendel Tuchman | Children's Research Institute | Boston Children’s Hospital | University Hospitals Cleveland Medical Center | University of California, Los Angeles | Children's Hospital of Philadelphia | Stanford University | Icahn School of Medicine at Mount Sinai | University of Pittsburgh | Children's Hospital ColoradoRecruiting
NCT03120013Rehabilitative Trial With Cerebello-Spinal tDCS in Neurodegenerative AtaxiaAtaxia, Cerebellar | Cerebellar Ataxia | Spinocerebellar Ataxias | Ataxia, Spinocerebellar | Spinocerebellar Ataxia Type 1 | Spinocerebellar Ataxia Type 2 | Spinocerebellar Ataxia 3 | Spinocerebellar Degenerations | Friedreich Ataxia | Ataxia With Oculomotor Apraxia | Multiple System AtrophyAzienda Ospedaliera Spedali Civili di BresciaRecruiting
NCT02660112(+) Epicatechin to Treat Friedreich's AtaxiaFriedreich's AtaxiaRalitza Gavrilova | Cardero Therapeutics, Inc. | Mayo ClinicRecruiting
NCT02796274Historical Case Record Survey of Visual Acuity Data From Patients With Leber's Hereditary Optic Neuropathy (LHON)Leber's Hereditary Optic Neuropathy (LHON)Santhera PharmaceuticalsRecruiting
NCT02774005Study to Assess the Efficacy and Safety of Raxone in LHON PatientsLeber's Hereditary Optic Neuropathy (LHON)Santhera PharmaceuticalsRecuiting
NCT02497534Biomarkers in Friedreich's Ataxia

Friedreich's Ataxia

University of Florida | Children's Miracle Network | National Institutes of Health (NIH)Recruiting
NCT02705547Rosuvastatin (Crestor) in Friedreich AtaxiaFriedreich's AtaxiaChildren's Hospital of Philadelphia | Friedreich's Ataxia Research AllianceRecruiting
NCT02424435Methylprednisolone Treatment of Friedreich AtaxiaFriedreich's AtaxiaChildren's Hospital of Philadelphia | Friedreich's Ataxia Research AllianceRecruiting
NCT01921868An Open-label Study of the Effects of Acetyl-L-Carnitine on Cardiovascular Outcomes in Friedreich's AtaxiaFriedreich's AtaxiaUniversity of South FloridaRecruiting
NCT03011203Acute Nutritional Ketosis in GSD IIIaGlycogen Storage Disease IIIAUniversity Medical Center Groningen | University of the Faroe Islands | University of Oxford | Stichting Stofwisselkracht | Stichting MetakidsRecruiting
NCT02923063Exercise Study Testing Enhanced Energetics of Muscle Mitochondria in CKDModerate-severe Chronic Kidney Disease Not Treated With Dialysis | Non-insulin Dependent Diabetic Kidney DiseaseUniversity of WashingtonRecruiting
NCT00004568Study of Inherited Neurological DisordersAtaxia | Motor Neuron Disease | Muscular Disease | Muscular Dystrophy | Peripheral Nervous System DiseaseNational Institute of Neurological Disorders and Stroke (NINDS) | National Institutes of Health Clinical Center (CC)Recruiting
NCT02427178MNGIE Allogeneic Hematopoietic Stem Cell Transplant Safety StudyMitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE)Michio Hirano | Cornell University | National Institute of Neurological Disorders and Stroke (NINDS) | Columbia UniversityRecruiting
NCT03111719Human Brown Adipose Tissue and Mitochondrial RespirationMitochondrial Metabolism Disorders | Adipose Tissue, Brown | Aging | ObesityMaastricht University Medical Center | Ministry of Education, Culture and ScienceRecruiting
NCT02696044Treatment of Mitochondrial Dysfunction in Rett Syndrome With TriheptanoinRett SyndromeEmory University | Ultragenyx Pharmaceutical IncRecruiting
NCT01625663Heart and Muscle Metabolism in Barth SyndromeBarth SyndromeWashington University School of Medicine | University of FloridaRecruiting
NCT02697201Dynamics of Muscle Mitochondria in Type 2 Diabetes (DYNAMMO T2D)Insulin ResistanceThe Cleveland ClinicRecruiting
NCT02700698Mitochondrial Function in Circulating Cells and Muscle TissueHealthy | Obesity | Insulin Sensitivity | WomenUniversity of Arkansas | Arkansas Children's Hospital Research InstituteRecruiting
NCT00727974Genetic Analysis of Children With Cyclic Vomiting Syndrome (CVS) and MigrainesVomiting | MigrainesMedical College of Wisconsin | Children's Hospital and Health System Foundation, WisconsinRecruiting
NCT01629459Resistance Exercise in Barth SyndromeBarth SyndromeWashington University School of MedicineRecruiting


Information on Selected Clinical Trials, Studies, and Registries


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.  

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: