Current Clinical Trials

Print Friendly, PDF & Email
ID Number
Study Focus
NCT02616484Evaluation of treatment with the investigational drug dichloroacetate (DCA) in children 6 months to 17 years with deficiency of the pyruvate dehydrogenase complex (PDC)Pyruvate Dehydrogenase Complex Deficiency (PDCDPDr. Peter Stacpoole, pws@ufl.eduRecruiting
NCT03048617An 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 BioTherapeuticsRecruiting
NCT02652767Efficacy Study of GS010 for the Treatment of Vision Loss up to 6 Months From Onset in LHON Due to the ND4 Mutation (RESCUE)LHONGenSight BiologicsNot recruiting
NCT02473445A 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 diseaseRaptor PharmaceuticalsOngoing but not recruiting
NCT02435940Inherited Retinal Degenerative Disease Registry


Kearns-Sayre Syndrome and other inherited retinal degenerative diseases


Foundation Fighting Blindness Clinical Research InstituteRecruiting
NCT02427178MNGIE 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 levelsColumbia UniversityRecruiting
NCT02398201A 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 TrustRecruiting
NCT02805790A 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 diseaseStealth BioTherapeuticsOngoing but not recruiting
NCT02053766Anesthesia in Patients With Mitochondrial DiseaseChildren up to 17 years oldThe University of Texas Health Science Center, HoustonRecruiting


Does clinical treatment of mitochondrial dysfunction impact Autism Spectrum Disorder?Children between 3-12 years of age with a diagnosed Autism Spectrum DisorderDrexel UniversityRecruiting
NCT02311257Survey 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 FloridaCompleted
NCT02284334Glycemic 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 – MOTORAdult patients 18-75 with mitochondrial myopathy and genetically-identified diseaseReata Pharmaceuticals


NCT02367014Bendavia (MTP-131) in people ages 16-65 years with Mitochondrial Myopathy


Adult patients 16-65 years with mitochondrial myopathy and genetically-identified diseaseStealth BioTherapeuticsCompleted
NCT02161848MRI 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, DenmarkCompleted
NCT02161380Safety Study of Adeno-associated virus vector for LHON gene therapyLHON due to G11778A mutation (LHON GTT) and 15-60 years of ageUniversity of MiamiRecruiting
NCT02154711MRI muscle phenotyping in mitochondrial diseaseGenetically diagnosed mitochondrial disease and healthy controlsUniversity of PennsylvaniaRecruiting
NCT02104336Phase 2 Study of EPI-743 in Children With Pearson SyndromePatients with Pearson Syndrome up to 18 years of age with a genetically confirmed diagnosisEdison PharmaTerminated
NCT02064569Safety evaluation of gene therapy GS010 in LHON patientsLHON due to G11778A mutation – 18+ years of ageGenSight Biologics – Paris, FranceOngoing but not recruiting
NCT02053766Anesthesia in Patients with Mitochondrial DiseasePediatric patient diagnosed with mitochondrial dysfunction based on modified Walker criteria and is undergoing procedure

>1 hour

University of Texas Health Science Center, HoustonRecruiting
NCT02023866Open-Label, Dose-Escalating Study to Assess Safety, Tolerability, Efficacy, PK and PD of RP103 in Children With Inherited Mitochondrial DiseaseGenetically diagnosed mitochondrial diseaseRaptor PharmaCompleted
NCT02003170Etiology and early diagnosis of neurodevelop-mental disordersChildren with neurodevelop-mental delays who present to Arkansas Children’s Outpatient ClinicsUniversity of ArkansasRecruiting
NCT02000284Mitochondrial Dysfunction in Autism Spectrum DisordersMitochondrial Disease, Autism Spectrum Disorder, Developmental Delay or Typically Developing ChildrenArkansas Children’s HospitalRecruiting
NCT01886378Phase 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
NCT01803906Tissue Sample Study for Mitochondrial Disorders


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


Columbia UniversityEnrolling by invitation only
NCT01780168NIH MINI Study (Metabolism, Infection and Immunity in Inborn Errors of MetabolismUrea Cycle Disorders, Fatty Acid Oxidation, Organic Acidemias, Mitochondrial Disease


National Human Genome Research InstituteRecruiting
NCT01694953Natural History Study of MNGIE5+ years old with Thymidine Phosphorylase defectColumbia UniversityRecruiting
NCT01694940Patient contact registry and tissue biorepositoryPossible or known mitochondrial disordersNAMDC/



NCT01642056EPI-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)Recruiting
NCT01532791Natural History Study – Mitochondrial Disease6 years and older with documented mtDNA point mutationsColumbia UniversityRecruiting
NCT01461304Triheptanoin (C7) for Fatty Acid Oxidation Disorders and Glycogen Storage DiseasesVLCAD, CPT1, CPT2, TFP, LCHAD, Glycogen Storage Diseases, Pyruvate CarboxylaseUniversity of Pittsburgh


Expanded access is currently available for this treatment.
NCT01148550Longitudinal Study of Mitochondrial Hepatopathies (MITOHEP)Hepatic respiratory chain or fatty acid oxidation disordersNational Institute of Diabetes and Digestive and Kidney DiseasesRecruiting
NCT02154711Magnetic 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 PennsylvaniaRecruiting
NCT01694940North 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 DNAColumbia University | National Institute of Neurological Disorders and Stroke (NINDS)Recruiting
NCT02809170The Effect of Arginine and Citrulline Supplementation on Endothelial Dysfunction in Mitochondrial DiseasesMitochondrial DiseaseTawam HospitalRecruiting
NCT02053766Anesthesia in Patients With Mitochondrial DiseaseMitochondrial DiseaseThe University of Texas Health Science Center, HoustonRecruiting
NCT02745938GDF-15 as a Biomarker for Mitochondrial DiseaseMitochondrial Disease | Metabolic Myopathy | Muscular DystrophyRigshospitalet, DenmarkRecruiting
NCT02920671Muscle OXPHOS and Nutrient HomeostasisMitochondrial Diseases | ObesityUniversity of PennsylvaniaRecruiting
NCT02000284Mitochondrial Dysfunction in Autism Spectrum DisorderAutism Spectrum Disorder | Autism | Mitochondrial Disease | Developmental DelayUniversity of Arkansas | Jane Botsford Johnson Foundation | Arkansas Biosciences Institute (ABI) | UT Health Science Center at San Antonio | St. Christopher’s Hospital for ChildrenRecruiting
NCT02398201A Study of Bezafibrate in Mitochondrial MyopathyMitochondrial DiseaseNewcastle-upon-Tyne Hospitals NHS Trust | Newcastle UniversityRecruiting
NCT01642056EPI-743 for Metabolism or Mitochondrial DisordersUndiagnosed Diseases | Metabolic Disease | Neurology | Myoptahy | Oxidation/Reduction | Mitochondrial DisordersNational Human Genome Research Institute (NHGRI) | National Institutes of Health Clinical Center (CC)Recruiting
NCT02909400The KHENERGY StudyMitochondrial Diseases | Mitochondrial Myopathies | Mitochondrial Encephalomyopathies | MELAS | MIDDKhondrion BV | Radboud Center for Mitochondrial Medicine (RCMM) | Radboud UniversityRecruiting
NCT03056794Natural History and Advanced Genetic Study of Pyruvate Dehydrogenase Complex DeficienciesPyruvate 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 HospitalNot Recruiting
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 DeficiencyRigshospitalet, DenmarkRecruiting
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 PharmaceuticalsNot Recruiting
NCT02497534Biomarkers in Friedreich’s AtaxiaFriedreich’s AtaxiaUniversity 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 | AgingMaastricht 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
NCT04378075A Study to Evaluate Efficacy and Safety of Vatiquinone for Treating Mitochondrial Disease in Participants With Refractory EpilepsyMitochondrial Diseases | Drug Resistant EpilepsyPTC TherapeuticsNot Yet Recruiting