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The database may not be exhaustive, please do not hesitate to contact us !
  • Thalassemia
    Genotype Phenotype
    • Cohorts

      Pediatric and adult

      30 / 30

    • Observational trials

      NCT01911871: multicenter Observational Study on Myocardial Iron Overload in 3 Multitransfused Populations (SUFEMYO)

    • Patient samples

      Blood

      Urine

      Saliva

      Red blood cells

      CD34+ hematopoietic stem progenitor cells

    Targets
    • In vitro models

      Human erythroid progenitor cell line

    • Specific targets

      b-globin

    Therapeutics
    • Patents

      WO/2015/079031: Methods and pharmaceutical compositions for the treatment of beta-thalassemias

      WO/2020/053224: methods for increasing fetal hemoglobin content in eukaryotic cells and uses thereof for the treatment of hemoglobinopathies

    • Specific therapeutic approaches

      Lentiviral gene therapy

      Small molecules

    Clinical trials
    • NCT

      NCT02151526: phase I/II study evaluating the safety and efficacy of lentiGlobin BB305 drug product in β-Thalassemia Major and Sickle Cell Disease

      NCT01571635: phase II study to determine the safety and tolerability of Sotatercept (ACE-011) in adults with Beta( β)- Thalassemia

      NCT02604433: phase III efficacy and safety study of Luspatercept (ACE-536) versus placebo in adults who require regular red blood cell transfusions due to Beta (β) Thalassemia (BELIEVE)

    Sickle Cell Disease (SCD)
    Genotype Phenotype
    • Cohorts

      ESCORT-HU: pediatric and adult

      >1000

    • Observational trials

      NCT01911871: multicenter Observational Study on Myocardial Iron Overload in 3 Multitransfused Populations (SUFEMYO)

      NCT02909283: Sickle Cell Anemia and cerebral microcirculation : multimodal exploration (DREAM²)

      NCT02516579: European Sickle Cell Disease Cohort-Hydroxyurea (ESCORT-HU)

      NCT03786549: impact of a pediatric-adult care transition program on the health status of patients with Sickle Cell Disease - a randomized controlled trial

      IDEAL: Identification of early predictors in sickle cell anemia to allow personalized medicine

      Mortality study of pediatric sickle cell disease from 2000 to 2015 in France

    • Patient samples

      Blood

      Urine

      Saliva

      Red blood cells

      CD34+ hematopoietic stem progenitor cells

    Targets
    Therapeutics
    • Patents

      WO2018/220211: Viral vectors combining gene therapy and genome editing approaches for gene therapy of genetic disorders

      WO2018/220210: Recombinant lentiviral vector for stem cell-based gene therapy of sickle cell disorder

      WO/2020/053224: Methods for increasing fetal hemoglobin content in eukaryotic cells and uses thereof for the treatment of hemoglobinopathies

    • Protocols/Technics

      Protocols for lentiviral transduction of hematopoietic stem cells for ex vivo gene therapy of SCD

      Protocols for genome editing of hematopoietic stem cells for ex vivo gene therapy of SCD  

    • Specific therapeutic approaches

      Lentiviral gene therapy

    Clinical trials
    • NCT

      NCT03964792: safety and efficacy of gene therapy of the Sickle Cell Disease by transplantation of an autologous CD34+ enriched cell fraction that contains CD34+ cells transduced ex vivo with the GLOBE1 lentiviral vector expressing the βAS3 globin gene in patients with Sickle Cell Disease (DREPAGLOBE)

      NCT02212535: phase I/II assessment of tolerance of mobilizing peripheral hematopoietic stem cells by Plerixafor in Sickle Cell Patients (DrepaMob)

      NCT02151526: phase I/II study evaluating the safety and efficacy of lentiGlobin BB305 drug product in β-Thalassemia Major and Sickle Cell Disease

      NCT02813850: phase III oxygen therapy and pregnancy in Sickle Cell Disease (DRO2G)

    Pyruvate Kinase Deficiency (PKD)
    Genotype Phenotype
    • Cohorts

      Pediatric

      Less than 10

    • TNGS / WES / WGS*

      PIC-Registry 1

    • Patient samples

      Blood

      Urine

      Saliva

    Targets
    Therapeutics
    Clinical trials
    G6P Deficiency
    Genotype Phenotype
    • Cohorts

      Pediatric and adult

      80 / 20

    • Patient samples

      Blood

      Urine

      Saliva

    Targets
    Therapeutics
    Clinical trials
    Red blood cell membrane anomalies
    Genotype Phenotype
    • Cohorts

      Pediatric

      35

    • Patient samples

      Blood

      Urine

      Saliva

    Targets
    Therapeutics
    Clinical trials
    Congenital dyserytrhopoiesis
    Genotype Phenotype
    • Cohorts

      Pediatric

      2

    • Patient samples

      Blood

      Urine

      Saliva

    Targets
    Therapeutics
    Clinical trials
  • Mastocytosis
    Genotype Phenotype
    • Cohorts

      Pediatric and adult

      >500

    • Observational trials

      NCT02441166: diagnostic value of bone marrow tryptase in systemic Mastocytosis (EvaTryMS)

      Prospective study on pediatric mastocytosis: long term follow up of 53 patients with whole sequencing of KIT

      Multicenter retrospective French study on 53 patients with mastocytosis among elderly patients

    • Patient samples

      Blood

    Targets
    • Specific targets

      tyrosine kinase activity of KIT

    Therapeutics
    Clinical trials
    • NCT

      NCT00814073: phase III Masitinib in severe indolent or smoldering systemic Mastocytosis (AB06006)

      NCT03401060: phase III interest of Denosumab treatment in osteoporosis associated to systemic Mastocytosis (DenosuMast)

      NCT01266369: phase II Masitinib in patients with mastocytosis with handicap and bearing the D816V mutation

      NCT00831974: phase II efficacy of AB1010 in patients with systemic indolent Mastocytosis

      NCT02478957: phase II treatment of indolent systemic Mastocytosis with PA101

    Myelodysplastic syndrome (MDS)
    Genotype Phenotype
    • Cohorts

      Please, contact us

    Targets
    Therapeutics
    Clinical trials
    Acute Myeloid Leukemia (AML)
    Genotype Phenotype
    • Cohorts

      Please, contact us

    Targets
    Therapeutics
    Clinical trials
    Acute Lymphocytic Leukemia (ALL)
    Genotype Phenotype
    • Cohorts

      Please, contact us

    Targets
    Therapeutics
    Clinical trials
    Chronic Myeloid Leukemia (CML)
    Genotype Phenotype
    • Cohorts

      Please, contact us

    Targets
    Therapeutics
    Clinical trials
    Chronic Lymphocytic Leukemia (CLL)
    Genotype Phenotype
    • Cohorts

      Please, contact us

    Targets
    Therapeutics
    Clinical trials
    Mast cell leukemia
    Genotype Phenotype
    • Cohorts

      Please, contact us

    Targets
    Therapeutics
    Clinical trials
    HTLV-1-associated adult T-cell leukemia/lymphoma
    Genotype Phenotype
    • Cohorts

      Please, contact us

    Targets
    Therapeutics
    Clinical trials
    Mantle cell lymphoma
    Genotype Phenotype
    • Cohorts

      Please, contact us

    Targets
    Therapeutics
    Clinical trials
  • Hemophilia A
    Genotype Phenotype
    • Cohorts

      Pediatric and adult

      250

    • Patient samples

      Blood

    Targets
    • Specific targets

      FVIII

    Therapeutics
    Clinical trials
    • NCT

      NCT01712438: phase III human cell line-derived recombinant Factor VIII (human-cl-rhFVIII) in previously untreated patients

      NCT02615691: phase III safety, immunogenicity and hemostatic efficacy of PEGylated recombinant FVIII (BAX 855) in previously untreated patients (PUPs) < 6 Years of age with severe Hemophilia A

      NCT02847637: phase III clinical trial to evaluate prophylactic Emicizumab versus no prophylaxis in Hemophilia A participants without Inhibitors (HAVEN 3)

      NCT03588299: phase I/II open-label safety and dose-finding study of BAY2599023 (DTX201), an adeno-associated virus (AAV) hu37-mediated gene transfer of B-domain deleted human Factor VIII, in adults with severe Hemophilia A

      NCT03587116: phase II six month lead-in study to evaluate prospective efficacy and safety data of current FIX prophylaxis replacement therapy in adult Hemophilia B subjects (FIX:C≤2%) or current FVIII prophylaxis replacement therapy in adult Hemophilia A subjects (FIX:C≤1%)

      NCT03093480: phase IV study to evaluate efficacy of rFVIIIFc for immune tolerance induction (ITI) in severe Hemophilia A participants with inhibitors undergoing the first ITI treatment (verITI-8 study)

      NCT02795767: phase III study of Emicizumab administered subcutaneously (SC) in pediatric participants with Hemophilia A and Factor VIII (FVIII) inhibitors (HAVEN 2)

      NCT00947193: phase II study of Ataluren (PTC124®) in Hemophilia A and B

      NCT04158648: phase III study to evaluate the safety, efficacy, pharmacokinetics and pharmacodynamics of Emicizumab in participants with mild or moderate Hemophilia A without FVIII inhibitors (HAVEN 6)

    Hemophilia B
    Genotype Phenotype
    • Cohorts

      Pediatric

      40

    • Patient samples

      Blood

    Targets
    • Specific targets

      FIX

    Therapeutics
    Clinical trials
    • NCT

      NCT01496274: phase II/III safety and efficacy study of a recombinant Fusion protein linking coagulation Factor IX with albumin (rIX-FP) in patients with Hemophilia B

      NCT03587116: phase III six month lead-in study to evaluate prospective efficacy and safety data of current FIX prophylaxis replacement therapy in adult Hemophilia B subjects (FIX:C≤2%) or current FVIII prophylaxis replacement therapy in adult Hemophilia A Subjects (FIX:C≤1%)

      NCT02053792: phase III safety and efficacy extension study of a recombinant fusion protein linking coagulation Factor IX with albumin (rIX-FP) in patients with Hemophilia B

      NCT00947193: phase II study of Ataluren (PTC124®) in Hemophilia A and B

    Von Willebrand disease (VWD)
    Genotype Phenotype
    Targets
    Therapeutics
    Clinical trials
    • NCT

      NCT02932618: phase III BAX 111 rVWF in pediatrics

      NCT04106908: effectiveness and tolerability of Eqwilate in real-life conditions

    Constitutional Thrombocytopenia
    Genotype Phenotype
    Targets
    Therapeutics
    Clinical trials
    Thrombotic disease of hematologic origin
    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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