Cure Mito Foundation
Cycle 3
Leigh syndrome is a most common pediatric mitochondrial disease. It is a neurodegenerative disease causing the loss of abilities to walk, talk, swallow. Leigh syndrome can be caused by 110+ nuclear and mitochondrial DNA mutations. Approximately 1 in 40,000 are affected.
Last updated 04/30/2025
Clinical
Disease Class
Inherited metabolic disorder
Body Systems
Cardiovascular / Circulatory
Digestive
Metabolic
Muscular / Skeletal
Nervous / Sensory
Renal / Urinary / Excretory
Respiratory
Organs
Bones
Brain
Connective tissue / joints
Esophagus
Eyes
Hair
Heart
Intestines
Kidneys
Liver
Lungs
Muscles
Nerves
Nose
Stomach
Trachea, cervical
Known Genetic Link
Yes, one or more genes directly cause the condition
causative_genes
AARS2
ACAD9
ACO2
AFG3L2
AIFM1
APOPT1
ATP5A1
ATP5E
ATPAF2
AUH
BCS1L
BOLA3
C12orf65
COQ2
COQ4
COQ6
COQ7
COQ8A
COQ9
COX10
COX14
COX15
COX20
COX6B1
COX8A
CYC1
DARS2
DGUOK
DLAT
DLD
DNM1L
EARS2
ECHS1
ETFDH
ETHE1
FARS2
FASTKD2
FBXL4
FH
FOXRED1
GCDH
GFER
GFM1
GFM2
GTPBP3
GYG2
HMGCL
HTRA2
IARS2
IBA57
ISCA2
LARS2
LIAS
LIPT1
LRPPRC
LYRM7
MARS2
MFF
MFN2
MPC1
MPV17
MRPL44
MRPS22
MT-ATP6
MT-CO3
MT-ND1
MT-ND2
MT-ND3
MT-ND4
MT-ND5
MT-ND6
MT-TI
MT-TK
MT-TL1
MT-TL2
MT-TV
MT-TW
MTFMT
MTPAP
NARS2
NDUFA1
NDUFA10
NDUFA11
NDUFA12
NDUFA2
NDUFA4
NDUFA9
NDUFAF1
NDUFAF2
NDUFAF3
NDUFAF4
NDUFAF5
NDUFAF6
NDUFAF7
NDUFB11
NDUFB3
NDUFS1
NDUFS2
NDUFS6
NDUFS7
NDUFS8
NDUFV1
NDUFV2
NFU1
NUBPL
PC
PCCA
PCCB
PDHA1
PDHB
PDHX
PDP1
PDSS1
PDSS2
PET100
PNPT1
POLG
RARS2
RMND1
RRM2B
SCO1
SCO2
SDHA
SDHAF1
SERAC1
SLC19A3
SLC22A5
SLC25A46
SUCLA2
SUCLG1
SURF1
TACO1
TARS2
TK2
TMEM70
TPK1
TRMU
TSFM
TTC19
TUFM
TWNK
TYMP
UQCC2
UQCC3
UQCRQ
VARS2
contributory_genes
AARS2
ACAD9
ACO2
AFG3L2
AIFM1
APOPT1
ATP5A1
ATP5E
ATPAF2
AUH
BCS1L
BOLA3
C12orf65
COQ2
COQ4
COQ6
COQ7
COQ8A
COQ9
COX10
COX14
COX15
COX20
COX6B1
COX8A
CYC1
DARS2
DGUOK
DLAT
DLD
DNM1L
EARS2
ECHS1
ETFDH
ETHE1
FARS2
FASTKD2
FBXL4
FH
FOXRED1
GCDH
GFER
GFM1
GFM2
GTPBP3
GYG2
HMGCL
HTRA2
IARS2
IBA57
ISCA2
LARS2
LIAS
LIPT1
LRPPRC
LYRM7
MARS2
MFF
MFN2
MPC1
MPV17
MRPL44
MRPS22
MT-ATP6
MT-CO3
MT-ND1
MT-ND2
MT-ND3
MT-ND4
MT-ND5
MT-ND6
MT-TI
MT-TK
MT-TL1
MT-TL2
MT-TV
MT-TW
MTFMT
MTPAP
NARS2
NDUFA1
NDUFA10
NDUFA11
NDUFA12
NDUFA2
NDUFA4
NDUFA9
NDUFAF1
NDUFAF2
NDUFAF3
NDUFAF4
NDUFAF5
NDUFAF6
NDUFAF7
NDUFB11
NDUFB3
NDUFS1
NDUFS2
NDUFS6
NDUFS7
NDUFS8
NDUFV1
NDUFV2
NFU1
NUBPL
PC
PCCA
PCCB
PDHA1
PDHB
PDHX
PDP1
PDSS1
PDSS2
PET100
PNPT1
POLG
RARS2
RMND1
RRM2B
SCO1
SCO2
SDHA
SDHAF1
SERAC1
SLC19A3
SLC22A5
SLC25A46
SUCLA2
SUCLG1
SURF1
TACO1
TARS2
TK2
TMEM70
TPK1
TRMU
TSFM
TTC19
TUFM
TWNK
TYMP
UQCC2
UQCC3
UQCRQ
VARS2
Type of Inheritance
Autosomal recessive
De novo
Mitochondrial
Newborn Screening
No
Disease Mechanism(s)
Inherited metabolic disorder
Mitochondrial defects
Mitochondrial disorder
Nutrient processing disorder
Pathogenic mutation
Transport defect
mTOR pathways dysregulation
Age of Onset
Early childhood (age 1+-5)
Infancy (age 0-1)
Middle childhood (6-11)
Average Age at Diagnosis
Early childhood (age 1+-5)
Life Expectancy
Adolescence (12-17)
Early childhood (age 1+-5)
Middle childhood (6-11)
Affected Sex(es)
Female
Male
National Prevalence
101-1000
Global Prevalence
101-1000
National Incidence
Less than 10
Global Incidence
11-50
Symptoms / Phenotypes
behavioral changes
developmental regression
diarrhea
failure to thrive
fatigue
feeding difficulties
inappropriate crying
motor regression
vomiting / nausea
Biomarkers
Diagnostic
· MRI imaging bilateral lesions in certain areas of brain, LP, Genetic test
Monitoring
· Blood tests lactic acid levels, MRI to observe lesions, regular evaluations of motor and cognitive skills
Prognostic
· Elevated lactate levels in CSF, MRI imaging
Therapeutic
· Metabolic blood markers
Existing Therapies
None
Organizational & Research
Cell Lines
Fibroblasts
iPSCs
LCLs
Cell Lines, Institution
Coriell Institute
Heinrich-Heine University of Dusseldorf
Perlara PBC
Transcripta Bio
University of Texas Southwestern Medical Center (UTSW)
Unravel Biosciences
Cell Lines, Involvement
Consulted
Funded
Own
Cell Lines, share
Some of our cell lines are freely available
Disease Model
C. elegans
Drosophila/fly
Organoids
Pig
Rat
Yeast
Zebrafish
Disease Model, Involvement
Consulted
Funded
Own
Disease Model, share
Some of our disease models are freely available
Clinical Trial Role
Data analysis
Data sharing
Focus group
Meeting with regulators
Outcome measures, development
Recruitment and outreach, patients
Study material design, review (not protocol)
Study protocol design, review
Biobank, Institution
Coriell Institute
University of Texas Southwestern Medical Center (UTSW)
Biobank, Involvement
Consulted
Center of Excellence, Institution
None
Registry
Yes, we have a registry that we created
Data Collected, Registry
Genetic data
Imaging data
Longitudinal natural history data
Medication usage
Patient contact info
Patient-reported data
Data Entered by, Registry
Patients
Platform, Registry
CoRDS
Natural History Study
No, we do not have a natural history study, but we plan to create or collaborate on one
FDA Patient Listening Session
Yes
FDA Patient-Focused Drug Development (PFDD) Program
No
ICD Codes
Yes, we have an ICD-10 code specific to our exact disease
Yes, we have an ICD-11 code specific to our exact disease
Diagnostic Guidelines
Yes, we have guidance available on our website
Science Advisory Board Policies
Yes, willing to share SAB policies
Research Network Policies
Has CRN but no policies
Research Roadmap
Yes we have a Research Roadmap, and will share policies
International Chapters
None
International Partners
Europe
South America