Current Clinical Trials

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ClinicalTrials.gov
ID Number
Intervention/
Study Focus
Mitochondrial
Disorder
Principal
Investigator
Status
NCT02616484 Evaluation 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 (PDCDP Dr. Peter Stacpoole, pws@ufl.edu Recruiting
NCT03048617 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 disease Stealth BioTherapeutics Recruiting
NCT02652767 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 Not recruiting
NCT02473445 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
NCT02435940 Inherited Retinal Degenerative Disease Registry

 

Kearns-Sayre Syndrome and other inherited retinal degenerative diseases

 

Foundation Fighting Blindness Clinical Research Institute Recruiting
NCT02427178 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 Recruiting
NCT02398201 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 Recruiting
NCT02805790 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
NCT02053766 Anesthesia in Patients With Mitochondrial Disease Children up to 17 years old The University of Texas Health Science Center, Houston Recruiting
NCT02348125

 

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 Recruiting
NCT02311257 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 Completed
NCT02284334 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

Completed
NCT02255422

 

RTA 408 Capsules in Patients With Mitochondrial Myopathy – MOTOR Adult patients 18-75 with mitochondrial myopathy and genetically-identified disease Reata Pharmaceuticals

AbbVie

Recruiting
NCT02367014 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 Completed
NCT02161848 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 Completed
NCT02161380 Safety Study of Adeno-associated virus vector for LHON gene therapy LHON due to G11778A mutation (LHON GTT) and 15-60 years of age University of Miami Recruiting
NCT02154711 MRI muscle phenotyping in mitochondrial disease Genetically diagnosed mitochondrial disease and healthy controls University of Pennsylvania Recruiting
NCT02104336 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 Terminated
NCT02064569 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
NCT02053766 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 Recruiting
NCT02023866 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 Completed
NCT02003170 Etiology and early diagnosis of neurodevelop-mental disorders Children with neurodevelop-mental delays who present to Arkansas Children’s Outpatient Clinics University of Arkansas Recruiting
NCT02000284 Mitochondrial Dysfunction in Autism Spectrum Disorders Mitochondrial Disease, Autism Spectrum Disorder, Developmental Delay or Typically Developing Children Arkansas Children’s Hospital Recruiting
NCT01886378 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
Ultragenyx Completed
NCT01803906 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
NCT01780168 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 Recruiting
NCT01694953 Natural History Study of MNGIE 5+ years old with Thymidine Phosphorylase defect Columbia University Recruiting
NCT01694940 Patient contact registry and tissue biorepository Possible or known mitochondrial disorders NAMDC/

Columbia

University

Recruiting
NCT01642056 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) Recruiting
NCT01532791 Natural History Study – Mitochondrial Disease 6 years and older with documented mtDNA point mutations Columbia University Recruiting
NCT01461304 Triheptanoin (C7) for Fatty Acid Oxidation Disorders and Glycogen Storage Diseases VLCAD, CPT1, CPT2, TFP, LCHAD, Glycogen Storage Diseases, Pyruvate Carboxylase University of Pittsburgh

Ultragenyx

Expanded access is currently available for this treatment.
NCT01148550 Longitudinal Study of Mitochondrial Hepatopathies (MITOHEP) Hepatic respiratory chain or fatty acid oxidation disorders National Institute of Diabetes and Digestive and Kidney Diseases Recruiting
NCT02154711 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 Recruiting
NCT01694940 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) Recruiting
NCT02809170 The Effect of Arginine and Citrulline Supplementation on Endothelial Dysfunction in Mitochondrial Diseases Mitochondrial Disease Tawam Hospital Recruiting
NCT02053766 Anesthesia in Patients With Mitochondrial Disease Mitochondrial Disease The University of Texas Health Science Center, Houston Recruiting
NCT02745938 GDF-15 as a Biomarker for Mitochondrial Disease Mitochondrial Disease | Metabolic Myopathy | Muscular Dystrophy Rigshospitalet, Denmark Recruiting
NCT02920671 Muscle OXPHOS and Nutrient Homeostasis Mitochondrial Diseases | Obesity University of Pennsylvania Recruiting
NCT02000284 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 Recruiting
NCT02398201 A Study of Bezafibrate in Mitochondrial Myopathy Mitochondrial Disease Newcastle-upon-Tyne Hospitals NHS Trust | Newcastle University Recruiting
NCT01642056 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) Recruiting
NCT02909400 The KHENERGY Study Mitochondrial Diseases | Mitochondrial Myopathies | Mitochondrial Encephalomyopathies | MELAS | MIDD Khondrion BV | Radboud Center for Mitochondrial Medicine (RCMM) | Radboud University Recruiting
NCT03056794 Natural History and Advanced Genetic Study of Pyruvate Dehydrogenase Complex Deficiencies Pyruvate Dehydrogenase Complex Deficiency Disease University Hospitals Cleveland Medical Center | Rare Diseases Clinical Research Network | National Institute of Neurological Disorders and Stroke (NINDS) Recruiting
NCT02985710 Assessment of Small Fiber Neuropathy in Rare Diseases Using Sudoscan Small Fiber Neuropathy | Fabry Disease | Ehlers Danlos Syndrome | Mitochondrial Disease Massachusetts General Hospital Recruiting
NCT01498263 Inherited Diseases, Caregiving, and Social Networks Alzheimer’s Disease | Inborn Errors of Metabolism | Mitochondrial Disorders | Undiagnosed Diseases National Human Genome Research Institute (NHGRI) | National Institutes of Health Clinical Center (CC) Recruiting
NCT01439854 Study of Dapagliflozin on Mitochondrial Dysfunction and Impaired Insulin Signaling/Action Insulin Sensitivity | Multiple Mitochondrial Dysfunctions Syndrome The University of Texas Health Science Center at San Antonio | National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) Recruiting
NCT01793168 Rare Disease Patient Registry & Natural History Study – Coordination of Rare Diseases at Sanford Please 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 Incorporated Recruiting
NCT02838979 Trial of Oral Glutamine on Mitochondrial Function in CKD Cardiovascular Disease | Sarcopenia | Endothelial Dysfunction | Muscle Mitochondrial Function | Kidney Disease University of Washington | New York Medical College | Emory University | Vanderbilt University | National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) Recruiting
NCT02895789 Oxidative Capacity and Exercise Tolerance in Ambulatory SMA Spinal Muscular Atrophy Type 3 | Mitochondrial Myopathy Columbia University | Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) Recruiting
NCT02596698 Mitochondrial Dysfunction, Inflammation, and White Matter Integrity in Youth With Mood Disorders Depression | Bipolar Disorder | Bipolar Disorder Not Otherwise Specified | Unspecified Mood Disorder University of Minnesota – Clinical and Translational Science Institute | Ontario Mental Health Foundation Recruting
NCT02457702 Mitochondrial Function in Patients With Severe Liver Disease Hepatic Insufficiency | Hypoalbuminemia University of Texas Southwestern Medical Center | National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) | National Institutes of Health (NIH) Recruiting
NCT02549703 Mitochondrial Dysfunction and Disease Progression Clinically Isolated Syndrome | Relapsing-Remitting Multiple Sclerosis | Secondary Progressive Multiple Sclerosis | Primary Progressive Multiple Sclerosis Icahn School of Medicine at Mount Sinai | Columbia University | The New York Stem Cell Foundation Recruiting
NCT02517307 Fatty Acid Oxidation Defects and Insulin Sensitivity Very Long-chain Acyl-CoA Dehydrogenase Deficiency | Trifunctional Protein Deficiency | Long-chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency | Medium-chain Acyl-CoA Dehydrogenase Deficiency | Normal Volunteers Oregon Health and Science University Recruiting
NCT02255435 RTA 408 Capsules in Patients With Friedreich’s Ataxia – MOXIe Friedreich Ataxia Reata Pharmaceuticals, Inc. | AbbVie | Friedreich’s Ataxia Research Alliance Recruiting
NCT03137355 The Leigh Syndrome Registry Leigh Syndrome | Leigh Disease | Leigh’s Necrotizing Encephalopathy | Subacute Necrotizing Encephalomyopathy | Subacute Necrotizing Encephalomyelopathy The University of Texas Health Science Center, Houston Recruiting
NCT03059420 Genetic Studies of Strabismus, Congenital Cranial Dysinnervation Disorders (CCDDs), and Their Associated Anomalies Congenital 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 Sequence Boston Children’s Hospital | Howard Hughes Medical Institute | National Eye Institute (NEI) Recruiting
NCT03153293 Safety and Efficacy Study of Gene Therapy for The Treatment of Leber’s Hereditary Optic Neuropathy Leber Hereditary Optic Neuropathy Huazhong University of Science and Technology | Shiyan Taihe Hospital Not Recruiting
NCT01694953 The Natural History Study of Mitochondrial NeuroGastroIntestinal Encephalopathy (MNGIE) Mitochondrial NeuroGastroIntestinal Encephalopathy (MNGIE) Columbia University | National Institute of Neurological Disorders and Stroke (NINDS) Recruiting
NCT03011541 FA Clinical Outcome Measures Friedreich Ataxia | Neuro-Degenerative Disease Children’s Hospital of Philadelphia | Friedreich’s Ataxia Research Alliance | University of Rochester Recruiting
NCT02771379 Post Authorisation Safety Study With Raxone in LHON Patients Leber’s Hereditary Optic Neuropathy (LHON) Santhera Pharmaceuticals Recruiting
NCT03011541 Stem Cell Ophthalmology Treatment Study II Retinal Disease | Age-Related Macular Degeneration | Retinitis Pigmentosa | Stargardt Disease | Optic Neuropathy | Nonarteritic Ischemic Optic Neuropathy | Optic Atrophy | Optic Nerve Disease | Glaucoma | Leber Hereditary Optic Neuropathy MD Stem Cells Recruiting
NCT02635269 Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy Metabolism, 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 Recruiting
NCT02840669 A Study to Characterize the Cardiac Phenotype of Individuals With Friedreich’s Ataxia (CARFA Study) Friedreich’s Ataxia Adverum Biotechnologies, Inc. | Annapurna Therapeutics SAS, a wholly owned subsidiary of Adverum Biotechnologies | Weill Medical College of Cornell University Recruiting
NCT02316314 Characterization of the Cardiac Phenotype of Friedreich’s Ataxia (FRDA) Friedreich’s Ataxia Weill Medical College of Cornell University Recruiting
NCT01599286 Short-term Outcome of N-Carbamylglutamate in the Treatment of Acute Hyperammonemia Propionic Acidemia, Type I and/or Type II | Methylmalonic Acidemia | Carbamoyl-Phosphate Synthase I Deficiency Disease | Ornithine Carbamoyltransferase Deficiency Mendel 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 Colorado Recruiting
NCT03120013 Rehabilitative Trial With Cerebello-Spinal tDCS in Neurodegenerative Ataxia Ataxia, 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 Atrophy Azienda Ospedaliera Spedali Civili di Brescia Recruiting
NCT02660112 (+) Epicatechin to Treat Friedreich’s Ataxia Friedreich’s Ataxia Ralitza Gavrilova | Cardero Therapeutics, Inc. | Mayo Clinic Recruiting
NCT02796274 Historical Case Record Survey of Visual Acuity Data From Patients With Leber’s Hereditary Optic Neuropathy (LHON) Leber’s Hereditary Optic Neuropathy (LHON) Santhera Pharmaceuticals Recruiting
NCT02774005 Study to Assess the Efficacy and Safety of Raxone in LHON Patients Leber’s Hereditary Optic Neuropathy (LHON) Santhera Pharmaceuticals Not Recruiting
NCT02497534 Biomarkers in Friedreich’s Ataxia Friedreich’s Ataxia University of Florida | Children’s Miracle Network | National Institutes of Health (NIH) Recruiting
NCT02705547 Rosuvastatin (Crestor) in Friedreich Ataxia Friedreich’s Ataxia Children’s Hospital of Philadelphia | Friedreich’s Ataxia Research Alliance Recruiting
NCT02424435 Methylprednisolone Treatment of Friedreich Ataxia Friedreich’s Ataxia Children’s Hospital of Philadelphia | Friedreich’s Ataxia Research Alliance Recruiting
NCT01921868 An Open-label Study of the Effects of Acetyl-L-Carnitine on Cardiovascular Outcomes in Friedreich’s Ataxia Friedreich’s Ataxia University of South Florida Recruiting
NCT03011203 Acute Nutritional Ketosis in GSD IIIa Glycogen Storage Disease IIIA University Medical Center Groningen | University of the Faroe Islands | University of Oxford | Stichting Stofwisselkracht | Stichting Metakids Recruiting
NCT02923063 Exercise Study Testing Enhanced Energetics of Muscle Mitochondria in CKD Moderate-severe Chronic Kidney Disease Not Treated With Dialysis | Non-insulin Dependent Diabetic Kidney Disease University of Washington Recruiting
NCT00004568 Study of Inherited Neurological Disorders Ataxia | Motor Neuron Disease | Muscular Disease | Muscular Dystrophy | Peripheral Nervous System Disease National Institute of Neurological Disorders and Stroke (NINDS) | National Institutes of Health Clinical Center (CC) Recruiting
NCT02427178 MNGIE Allogeneic Hematopoietic Stem Cell Transplant Safety Study Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE) Michio Hirano | Cornell University | National Institute of Neurological Disorders and Stroke (NINDS) | Columbia University Recruiting
NCT03111719 Human Brown Adipose Tissue and Mitochondrial Respiration Mitochondrial Metabolism Disorders | Adipose Tissue, Brown | Aging | Obesity Maastricht University Medical Center | Ministry of Education, Culture and Science Recruiting
NCT02696044 Treatment of Mitochondrial Dysfunction in Rett Syndrome With Triheptanoin Rett Syndrome Emory University | Ultragenyx Pharmaceutical Inc Recruiting
NCT01625663 Heart and Muscle Metabolism in Barth Syndrome Barth Syndrome Washington University School of Medicine | University of Florida Recruiting
NCT02697201 Dynamics of Muscle Mitochondria in Type 2 Diabetes (DYNAMMO T2D) Insulin Resistance The Cleveland Clinic Recruiting
NCT02700698 Mitochondrial Function in Circulating Cells and Muscle Tissue Healthy | Obesity | Insulin Sensitivity | Women University of Arkansas | Arkansas Children’s Hospital Research Institute Recruiting
NCT00727974 Genetic Analysis of Children With Cyclic Vomiting Syndrome (CVS) and Migraines Vomiting | Migraines Medical College of Wisconsin | Children’s Hospital and Health System Foundation, Wisconsin Recruiting
NCT01629459 Resistance Exercise in Barth Syndrome Barth Syndrome Washington University School of Medicine Recruiting