Inborn errors of metabolism

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

  • Mapple Syrup Urine Diseases

    Mapple Syrup Urine Diseases
    Genotype Phenotype

    • Cohorts

      50 patients

    • TNGS / WES / WGS*

      "Inborn errors of metabolism" gene panel

    • Patient samples

      Fibroblasts

    Targets

    • In vivo models

      Bckdha -/-

      Bckdhb -/-

    • Patents

      1 patent (confidential)

    • Protocols/Technics

      Gene therapy (confidential, please contact us)

    • Specific targets

      BCKDHA, BCKDHB, DBT

    Therapeutics

    • Specific biomarkers

      ex vivo metabolic flux (C. Ottolenghi, C. Pontoizeau) - Biochemistry Necker

    • Specific therapeutic approaches

      Gene tehrapy (confidential)

    Clinical trials

    Other intoxication type disorders

    PKU
    Genotype Phenotype

    • Cohorts

      Around 350 patients

    • TNGS / WES / WGS*

      "Inborn errors of metabolism" gene panel

    • Patient samples

      DNA

      Fibroblasts

    Targets
    Therapeutics
    Clinical trials
    Tyrosinemia type 1
    Genotype Phenotype
    Targets
    Therapeutics
    Clinical trials
    Urea cycle disorders
    Genotype Phenotype
    Targets
    Therapeutics
    Clinical trials
    Organic acidurias (MMA, PA and IVA)
    Genotype Phenotype
    Targets
    Therapeutics
    Clinical trials
    Inborn errors of homocysteine metabolism
    Genotype Phenotype
    Targets
    Therapeutics
    Clinical trials

  • Mitochondrial disorders

    See Mitochondrial disorders

    Other disorders of energy metabolism

    Lipin-1 deficiency rhabdomyolysis
    Genotype Phenotype
    Targets
    Therapeutics
    Clinical trials
    Hyperinsulinemic hypoglycemia
    Genotype Phenotype
    Targets
    Therapeutics
    Clinical trials
    Mitochondrial fatty oxidation disorders
    Genotype Phenotype
    Targets
    Therapeutics
    Clinical trials
    Glycogen Storage Diseases
    Genotype Phenotype
    Targets
    Therapeutics
    Clinical trials

  • Lysosomal storage disorders

    Muccopolysaccharidoses type 1 to 7
    Genotype Phenotype
    Targets
    Therapeutics
    Clinical trials
    Pompe disease
    Genotype Phenotype
    Targets
    Therapeutics
    Clinical trials
    Wolman disease
    Genotype Phenotype
    Targets
    Therapeutics
    Clinical trials
    Gaucher disease
    Genotype Phenotype
    Targets
    Therapeutics
    Clinical trials

    Congenital disorders of glycosylation

    Congenital disorders of glycosylation
    Genotype Phenotype
    Targets
    Therapeutics
    Clinical trials

  • Neurometabolic diseases
    Genotype Phenotype
    Targets
    Therapeutics
    Clinical trials
    Neurotransmitter disorders
    Genotype Phenotype
    Targets
    Therapeutics
    Clinical trials

Contacts

  • Marion Pilorge

    Marion Pilorge

    Business development manager

    • +33 1 42 75 45 65
  • Thibaut Perchet

    Thibaut PERCHET

    Business development manager

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

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