Mitochondrial disorders

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The database may not be exhaustive, please do not hesitate to contact us !

  • Neurodegeneration with brain iron accumulation (NBIA)
    Genotype Phenotype

    • Cohorts

      Around 10 patients

    • TNGS / WES / WGS*

      "Mitome" gene panel for mitochondrial diseases

      *Targeted Next Generation Sequencing Gene Panel 

    • Patient samples

      Fibroblasts

    Targets

    • Specific targets

      CRAT, REPS1, etc.

    Therapeutics

    • Specific biomarkers

      Please, contact us

    • Patents

      Methods and pharmaceutical compositions for the treatment of neurodegeneration with brain iron accumulation (WO2018115012)

      Second patent (please, contact us)

    • Specific therapeutic approaches

      Repurposing

    Clinical trials
    Friedreich Ataxia
    Genotype Phenotype

    • Cohorts

      > 200 pediatric and adult patients

    • Patient samples

      Fibroblasts

    Targets

    • Specific targets

      FXN 

    Therapeutics

    • Specific biomarkers

      Please contact us (see patents)

    • Patents

      Methods and pharmaceutical compositions for the treatment of neurodegeneration with brain iron accumulation (WO2018115012)


      Second patent (please, contact us)

    • Specific therapeutic approaches

      Gene therapy 

      Repurposing

    Clinical trials

  • Mitochondrial DNA related disorders
    Genotype Phenotype

    • Cohorts

      Patients with different mitochondrial diseases (please, contact us)

    • TNGS / WES / WGS*

      "Mitome" gene panel for mitochondrial diseases

    • Patient samples

      Fibroblasts

    Targets
    Therapeutics
    Clinical trials

  • Respiratory chain subunits defects
    Genotype Phenotype

    • Cohorts

      > 400 pediatric and adult patients with different mitochondrial diseases (please, contact us) 

    • TNGS / WES / WGS*

      "Mitome" gene panel for mitochondrial diseases

    • Patient samples

      Fibroblasts

    Targets

    • Protocols/Technics

      Measurement of mitochondrial respiration (Oroboros technology)


      Analysis of respiratory chain assembly (BN-PAGE)

    Therapeutics
    Clinical trials

  • mtDNA maintenance defects
    Genotype Phenotype

    • Cohorts

      > 60 pediatric and adult patients with different mitochondrial diseases

    • TNGS / WES / WGS*

      "Mitome" gene panel for mitochondrial diseases

    • Patient samples

      Fibroblasts

    Targets
    Therapeutics

    • Specific therapeutic approaches

      Gene therapy approaches to treat mitochondrial diseases caused by defects in mitochondrial gene expression

    Clinical trials

  • Mitochondrial translation defects
    Genotype Phenotype

    • Cohorts

      > 70 pediatric and adult patients with different mitochondrial diseases

    • TNGS / WES / WGS*

      "Mitome" gene panel for mitochondrial diseases

    • Patient samples

      Fibroblasts

    Targets

    • In vivo models

      Conditional KO mouse model - confidential, please contact us

    • Protocols/Technics

      Synthesis of mitochondrially encoded proteins

    • Specific targets

      Confidential, please contact us

    Therapeutics
    Clinical trials

Contacts

  • Thibaut Perchet

    Thibaut PERCHET

    Business development manager

    • thibaut.perchet@institutimagine.org
    • +33 1 42 75 42 55

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