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The database may not be exhaustive, please do not hesitate to contact us !
  • Cutis laxa
    Genotype Phenotype
    Targets
    Therapeutics
    Clinical trials
    Ehlers-Danlos syndrome
    Genotype Phenotype
    Targets
    Therapeutics
    Clinical trials
    Atopic dermatitis
    Genotype Phenotype
    Targets
    Therapeutics
    Clinical trials
  • Epidermolysis bullosa

    Recessive Dystrophic Epidermolysis bullosa (RDEB)
    Genotype Phenotype
    • Cohorts

      180 patients

    • TNGS / WES / WGS*

      "Dermatome" gene panel

      "Genodermatoses" gene panel

    • Observational trials

      NCT01874769: Study of Immune Tolerance and Capacity for Wound Healing of Patients With Recessive Dystrophic Epidermolysis Bullosa (RDEB)

       

    • Patient samples

      DNA, fibrobastes, skin biopsies, blood

    Targets
    • In vitro models

      Immortalized keratinocytes, rCOL7A1 immortalized cells

    • In vivo models

      cCOL7A1-/- KO mice

      cCOL7A1-/- KI mice

      cCOL7A1-/- humanized mouse

    • Specific targets

      COL7A1

    Therapeutics
    • Patents

      WO/2013/053819: Exon skipping therapy for dystrophic epidermolysis bullosa

    • Protocols/Technics

      Exon skipping  (GeneGraft protocol)

      Equivalent skin (dermis/epidermis) model for grafting on mice

      COL7A1 Elisa test

    • Specific therapeutic approaches

      ex vivo COL7A1 gene addition (Genegraft)

      Modified mesenchymal stem cell grafting (Genegraft)

      COL7A1 exon skipping

      Recombinant COL7A1 plasmid expression

    Clinical trials
    • NCT

      NCT04186650: Phase I/II ex vivo gene therapy clinical trial for RDEB using genetically corrected autologous kkin equivalent grafts (EBGraft)

      NCT03605069: Phase I/II topical QR-313 in dominant dystrophic epidermolysis bullosa (DDEB) or recessive dystrophic epidermolysis bullosa (RDEB) due to mutation(s) in exon 73 of the COL7A1 gene (WINGS)

      NCT03730584: evaluation of the efficacy of ROPIVACAINE in children and young adults with hereditary epidermolysis bullosa (EBROPI)

      NCT03068780: phase III efficacy and safety study of Oleogel-S10 in epidermolysis bullosa (EASE)

    • Other informations

      ex vivo gene therapy, small molecules

    Junctional Epidermolysis Bullosa (JEB)
    Genotype Phenotype
    • TNGS / WES / WGS*

      "Dermatome" gene panel

      "Genodermatoses" gene panel

    Targets
    • Specific targets

      ITGB4

      ITGA6

      LAMA3

      LAMB3

      LAMC2

      COL17A1

    Therapeutics
    Clinical trials
    • NCT

      NCT03730584: evaluation of the efficacy of ROPIVACAINE in children and young adults with hereditary epidermolysis bullosa (EBROPI)

      NCT03068780: phase III efficacy and safety study of Oleogel-S10 in epidermolysis bullosa (EASE)

    Epidermolysis bullosa simplex (EBS)
    Genotype Phenotype
    • TNGS / WES / WGS*

      "Dermatome" gene panel

      "Genodermatoses" gene panel

    Targets
    • Specific targets

      KRT5

      KRT14

    Therapeutics
    Clinical trials
    • NCT

      NCT03730584: evaluation of the efficacy of ROPIVACAINE in children and young adults with hereditary epidermolysis bullosa (EBROPI)

    Ichthyosis

    Netherton syndrome (NS)
    Genotype Phenotype
    • Cohorts

      180 patients (adult and children)

    • TNGS / WES / WGS*

      "Dermatome" gene panel

      "Genodermatoses" gene panel

    • Observational trials

      NCT02081313: natural history and biological study of Netherton Syndrome (NSnatbio)

    • Patient samples

      DNA, fibrobastes, skin biopsies

    Targets
    • In vitro models

      Immortalized keratinocytes

    • In vivo models

      cKLK5-/- mouse

      cSPINK5-/- mouse

      cKLK5-/- cSPINK5-/- mouse

    • Specific targets

      SPINK5 / LEKTI-1, KLK5, PAR2, TNFa-IL1

    Therapeutics
    • Patents

      WO/2001/064747: Mutation in SPINK5 responsible for Netherthon's syndrome and atopic diseases

      WO/2013/010963: Use of Coumarin derivatives for the preparation of drugs for treating skin diseases

      WO/2009/093119: Use of serine protease inhibitors in the treatment of skin diseases

    • Protocols/Technics

      Screening for KLK5 specific inhibitors

      Screening for drugs blocking overexpressed pro-inflammatory cytokines

    Clinical trials
    • NCT

      NCT02113904: phase II clinical Trial Using Humira in Netherton Syndrome (AntiTNF-SN)

    Lamellar ichthyosis
    Genotype Phenotype
    • TNGS / WES / WGS*

      "Dermatome" gene panel

      "Genodermatoses" gene panel

    Targets
    • Specific targets

      TGM1

      ABCA12

      ALOX12B

      NIPAL4

    Therapeutics
    Clinical trials
    • NCT

      NCT03738800: phase II safety, efficacy and systemic exposure study of CD5789 cream in adults and adolescents with Lamellar Ichthyosis

    Nonbullous congenital ichthyosiform erythroderma (NBCIE)
    Genotype Phenotype
    Targets
    Therapeutics
    Clinical trials

    Other epidermal disorders

    Darier disease
    Genotype Phenotype
    • Cohorts

      50 patients

    • TNGS / WES / WGS*

      "Dermatome" gene panel

      "Genodermatoses" gene panel

    • Patient samples

      DNA

      Fibrobastes

      Skin biopsies

    Targets
    • In vitro models

      Immortalized keratinocytes

    • Specific targets

      SPINK5/LEKTI-1

      KLK5

      TSLP

      ATP2A2/SERCA2

    Therapeutics
    Clinical trials
    Ectodermal dysplasia
    Genotype Phenotype
    Targets
    Therapeutics
    Clinical trials
    Palmoplantar keratoderma
    Genotype Phenotype
    Targets
    Therapeutics
    Clinical trials
    Familial Benign Chronic Pemphigus (Hailey-Hailey Disease)
    Genotype Phenotype
    Targets
    Therapeutics
    Clinical trials
  • Chronic Granulomatous disease (CGD)
    Genotype Phenotype
    Targets
    Therapeutics
    Clinical trials
    Wiskott-Aldrich syndrome (WAS)
    Genotype Phenotype
    Targets
    Therapeutics
    Clinical trials
    SAMEC syndrome
    Genotype Phenotype
    Targets
    Therapeutics
    Clinical trials
    Epidermodysplasia verruciformis
    Genotype Phenotype
    Targets
    Therapeutics
    Clinical trials
  • For further information, please contact us!

     

    Photodermatosis
    Genotype Phenotype
    Targets
    Therapeutics
    Clinical trials
    Pigmentation anomaly of the skin
    Genotype Phenotype
    Targets
    Therapeutics
    Clinical trials
    Subcutaneous tissue disorder
    Genotype Phenotype
    Targets
    Therapeutics
    Clinical trials
    Urticaria
    Genotype Phenotype
    Targets
    Therapeutics
    Clinical trials

Contacts

  • Nicolas Doulet

    Nicolas DOULET

    Business development manager

    • nicolas.doulet@institutimagine.org
    • +33(0)1 42 75 42 55

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