Approved drugs for Mitochondrial disease

As of January, 2019

DrugType of diseaseCountryCompany

Raxone

LHON

EU (under exceptional circumstances)

Santhera Pharmaceuticals


Clinical research, clinical study, and clinical trial in Japan

As of January, 2019

Compound Type of disease Status Sponsor

Vatiquinone (EPI-743) (UMIN000010783)

MELAS Clinical study
Phase 1
Recruiting National Center Hospital, National Center of Neurology and Psychiatry

Vatiquinone (EPI-743)
(JapicCTI-132349)
(JapicCTI-142628)

Leigh Syndrome

Clinical trial
Phase 3

Active,
not recruiting

Dainippon Sumitomo Pharma Co., Ltd

Taurine
(UMIN000029376)

MELAS

Clinical study
Phase 3

Enrolling
by invitation

Kawasaki Medical School

Taurine
(UMIN000009358)

MERRF

Clinical study
Phase 2

Completed

Kawasaki Medical School

Bezafibrate
(UMIN000017984)

Mitochondrial Fatty Acid Beta-Oxidation Disorder

Clinical study
Phase 2/3

Recruiting

Shimane University Hospital

Sodium pyruvate (UMIN000025880)

Leigh Syndrome

Clinical study
Phase 3

Not yet
recruiting

Kurume University School of Medicine

Sodium pyruvate (UMIN000025874)

MELAS/MELA

Clinical study
Phase 3

Active,
not recruiting

Kurume University School of Medicine

Sodium pyruvate

Mitochondrial Disorder Clinical study Recruiting Osaka University

L-arginine (JMA-IIA00023)

L-arginine (JMA-IIA00025)

MELAS

Investigator-initiated clinical trial
Phase 3

Completed

Kurume University School of Medicine

SPP-004 (5-ALA/Fe)
(JMA-IIA00358)

Mitochondrial Disease, mainly to cranial nerve symptoms

Investigator-initiated clinical trial (DB)
Phase 3
Recruiting

Saitama Medical University Hospital

Idebenone
(UMIN000017939)

LHON

Clinical study
Phase 1/2
Active,
not recruiting

Hyogo College of Medicine

Skin electrical stimulation
(UMIN000031057)

LHON

Clinical study
Phase 1
Recruiting

Kobe University


Clinical research, clinical study, and clinical trial around the world

As of January, 2019

Compound Type of disease Status SponsorCountry

Vatiquinone (EPI-743) (NCT02352896)

Leigh Syndrome

Clinical trial (DB)
Phase 2

Active,
not recruiting

Edison Pharmaceuticals Inc

USA

Vatiquinone (EPI-743) (NCT02104336)

Pearson Syndrome

Clinical trial
Phase 2

Terminated

Edison Pharmaceuticals Inc

USA

Vatiquinone (EPI-743)
(NCT01370447)

Mitochondrial Disease

Clinical trial
Phase 2

Active,
not recruiting

Edison Pharmaceuticals Inc 

USA

Vatiquinone (EPI-743) (NCT01642056)

Mitochondrial Disorders, etc

Clinical study (DB)
Phase 2

Active,
not recruiting

National Human Genome Research Institute (NHGRI)

USA

Omaveloxolone (RTA408) (NCT02255422)

Mitochondrial Myopathy

Clinical trial (DB)
Phase 2

Completed

Reata Pharmaceuticals Inc

USA
Denmark

RP103
(NCT02473445)

Mitochondorial Disease

Clinical trial 
Phase 2

Terminated

Horizon Pharma lnc (Raptor Pharmaceuticals Inc)

USA

Elamipretide (MTP-131)
(NCT03323749)

Mitochondrial Myopathy Clinical trial (DB)
Phase 3
Recruiting

Stealth BioTherapeutics Inc

USA

Elamipretide (MTP-131)
(NCT02693119)

LHON Clinical trial (DB)
Phase 2
Active,
not recruiting

Stealth BioTherapeutics Inc

USA

Elamipretide (MTP-131)
(NCT02805790)

Mitochondrial Disease Clinical trial (DB)
Phase 2
Completed

Stealth BioTherapeutics Inc

USA

KH176
(NCT02909400)

MELAS, MIDD, etc.

Clinical trial (DB)
Phase 2

Completed

Khondrion BV

Netherland

Nab-rapamycin(ABI-009)
(NCT03747328)

Leigh Syndrome

Clinical trial
Phase 2

Not yet
recruiting

Aadi, LLC

USA

GS010 (rAAV2/2-ND4)
(NCT02064569)
(NCT02652767)
(NCT02652780)
(NCT03293524)
(NCT03406104)

LHON

Clinical trial (DB)
Phase 1/2/3

Recruiting
(NCT03293524)
(NCT03406104)

GenSight Biologics

France
USA
Germany
Italy
UK

GS010 (rAAV2/2-ND4)
(NCT03672968)

LHON

Expanded Access (Compassionate use)

Available

GenSight Biologics 

USA

Bezafibrate
(NCT02398201)

Mitochondrial Myopathy Clinical trial (DB)
Phase 2
Completed

Newcastle-upon-Tyne Hospitals NHS Trust

UK

Bezafibrate
(2012-002692-34)

Mitochondrial Myopathy Clinical study
Phase 2
Active

Universitätsklinik für Kinder- und Jugendheilkunde

Austria

scAAV2-P1ND4v2 (NCT02161380)

LHON

Clinical study
Phase 1
Recruiting University of Miami

USA

rAAV2-ND4
(NCT03428178)

LHON

Clinical study Recruiting

Huazhong University of Science and Technology

China

Metformin
(NCT02500628)

Mitochondorial Disease (Heart Rate Variability)

Clinical study
Phase 2
Completed

Woodinville Psychiatric Associates

USA

L-arginine, Citrulline (NCT02809170)

Mitochondrial Disease

Clinical study

Active,
not recruiting

Tawam Hospital UAE

Dapagliflozin
(NCT01439854)

Multiple Mitochondrial Dysfunctions Syndrome (Carbohydrate Metabolism)

Clinical study (DB) Completed

The University of Texas

USA

Triheptanoin
(NCT01379625)

Very Long-Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency, Carnitine Palmitoyltransferase 2 (CPT2) Deficiency, Mitochondrial Trifunctional Protein (TFP) Deficiency, Long-Chain 3 HydroxyacylCoA Dehydrogenase (LCHAD) Deficiency

Clinical study (DB)
Phase 2

Completed

Oregon Health and Science University

USA

Triheptanoin
(NCT01461304)

Very Long-chain acylCoA Dehydrogenase (VLCAD) Deficiency,
Carnitine Palmitoyltransferase Deficiencies (CPT1, CPT2),
Mitochondrial Trifunctional Protein Deficiency,
Long-chain Hydroxyacyl-CoA Dehydrogenase Deficiency,
Pyruvate Carboxylase Deficiency Disease,
ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 9, DEFICIENCY of Barth Syndrome,
etc

Expanded Access (Compassionate use)

Available

University of Pittsburgh

USA

Raxone (Idebenone)
(NCT02774005)

LHON

Clinical trial
Phase 4

Recruiting

Santhera Pharmaceuticals 

USA
EU

Idebenone
(NCT00887562)

MELAS

Clinical study (DB)
Phase 2

Completed

Columbia University

USA

KL1333
(NCT03056209)

MELAS
Mitochondrial Respiratory Chain Deficiencies

Clinical trial
Phase 1

Completed

Yungjin Pharm

Korea

Coenzyme Q10
(NCT00432744)

Mitochondrial Disease

Clinical study (DB)
Phase 3

Completed

University of Florida

USA
Canada

Nicotinamide Riboside
(NCT03432871)

Mitochondrial Disease,
etc.

Clinical study

Recruiting

Cambridge University

UK

Resveratrol
(NCT03728777)

Mitochondrial Myopathy, etc

Clinical study (DB)

Recruiting

Rigshospitalet

Denmark

BMSC
(NCT03011541)

LHON, etc.

Clinical trial

Recruiting

MD Stem Cells

USA
UAE

Allogeneic HSC
(NCT02427178)

MNGIE

Clinical study
Phase 1

Recruiting

Columbia University

USA

CD34+ Cells
(NCT03384420)

Non-inherited Mitochondrial Disease,
Pearson Syndrome

Clinical study
Phase 1

Not yet
recruiting

Sheba Medical Center

Israel

Icatibant (HOE-140)
(NCT03177798)

Hemodialysis-Induced Symptom Mitochondrial Diseases

Clinical study (DB)
Phase 2

Active,
not recruiting

Vanderbilt University

USA

Carbaglu
(NCT01599286)

Propionic Acidemia,
Carbamoyl-Phosphate Synthase I Deficiency Disease,
etc

Clinical study (DB)
Phase 2

Recruiting

Children's Research Institute

USA

Dichloroacetate
(NCT02616484)

Pyruvate Dehydrogenase Complex Deficiency

Clinical study (DB)
Phase 3

Recruiting

University of Florida

USA

Sodium Phenylbutyrate
(NCT03734263)

Pyruvate Dehydrogenase Complex Deficiency

Clinical trial
Phase 1/2

Recruiting

Fondazione Telethon

Italia

KOINOBORI Associate Inc.

Previous data (pdf)