Research Models and Biological Samples
Clinical Resources
Therapeutic and Diagnostic Development
Xeroderma pigmentosum
Research Models and Biological Samples
Therapeutic and Diagnostic Development
clinical trial
NCT05370235 – Phase IIa open-label study aimed at evaluating the safety and efficacy of subcutaneous afamelanotide implants in patients with Xeroderma Pigmentosum C and V (XPC and XPV).
clinical trial
NCT05370235 – Phase IIa open-label study aimed at evaluating the safety and efficacy of subcutaneous afamelanotide implants in patients with Xeroderma Pigmentosum C and V (XPC and XPV).
X-Linked hypohidrotic ectodermal dysplasia (XLHED)
Research Models and Biological Samples
Therapeutic and Diagnostic Development
clinical trial
NCT04980638 – Intraamniotic Administrations of ER004 to Male Subjects With X-linked Hypohidrotic Ectodermal Dysplasia
clinical trial
NCT04980638 – Intraamniotic Administrations of ER004 to Male Subjects With X-linked Hypohidrotic Ectodermal Dysplasia
Palmoplantar keratoderma (PPK)
Research Models and Biological Samples
Therapeutic and Diagnostic Development
Patents
EGFR inhibitors for treating keratodermas
Patents
Topical use of erlotinib for treating keratodermas in children
Patents
EGFR inhibitors for treating keratodermas
Patents
Topical use of erlotinib for treating keratodermas in children
Netherton syndrome (NS)
Research Models and Biological Samples
Samples
DNA – fibroblasts – Skin biopsies from patients with NS
In vitro models
Immortalized keratinocytes
Protocols
Screening for KLK5 specific inhibitors – Screening for drugs blocking overexpressed pro-inflammatory cytokines
Patient Cohorts
180 patient cohort (pediatric and adult)
Therapeutic and Diagnostic Development
Patents
Novel benzimidamides compounds comprising an oxabonirin ring
Patents
Novel inhibitors of kallikrein proteases and uses thereof
Patents
Use of coumarin derivatives for the preparation of drugs for treating skin diseases
Patents
Use of IL-36 inhibitors for the treatment of Netherton syndrome
Patents
Use of serine protease inhibitors in the treatment of skin diseases
clinical trial
NCT04244006 – A randomized double-blinded pilot study of the efficacy and safety of dupilumab versus placebo in patients with Netherton syndrome
clinical trial
NCT05211830 – A Phase I/II Multicenter Randomized Double-blind Placebo Within-patient Controlled First-in-human (FIH) Proof of Concept (PoC) Study to Evaluate the Safety and Efficacy of Topically Applied SXR1096 Cream in Patients With Netherton Syndrome (NS)
Samples
DNA – fibroblasts – Skin biopsies from patients with NS
In vitro models
Immortalized keratinocytes
Protocols
Screening for KLK5 specific inhibitors – Screening for drugs blocking overexpressed pro-inflammatory cytokines
Patient Cohorts
180 patient cohort (pediatric and adult)
Patents
Novel benzimidamides compounds comprising an oxabonirin ring
Patents
Novel inhibitors of kallikrein proteases and uses thereof
Patents
Use of coumarin derivatives for the preparation of drugs for treating skin diseases
Patents
Use of IL-36 inhibitors for the treatment of Netherton syndrome
Patents
Use of serine protease inhibitors in the treatment of skin diseases
clinical trial
NCT04244006 – A randomized double-blinded pilot study of the efficacy and safety of dupilumab versus placebo in patients with Netherton syndrome
clinical trial
NCT05211830 – A Phase I/II Multicenter Randomized Double-blind Placebo Within-patient Controlled First-in-human (FIH) Proof of Concept (PoC) Study to Evaluate the Safety and Efficacy of Topically Applied SXR1096 Cream in Patients With Netherton Syndrome (NS)
Inherited epidermolysis bullosa
Research Models and Biological Samples
Therapeutic and Diagnostic Development
clinical trial
NCT04853667 – Improve Adherence to Weak or Strong Opioid Analgesics at the Time of Care in Children With Hereditary Epidermolysis Bullosa
clinical trial
NCT05651607 – Evaluation of the Efficacy of CANNABIDIOL on the Pruritus in Children With Hereditary Epidermolysis Bullosa
clinical trial
NCT05248503 – Impact of Complex Care Training of Hereditary Epidermolysis Bullosa on Caregiver Burden (FIREB)
clinical trial
NCT04853667 – Improve Adherence to Weak or Strong Opioid Analgesics at the Time of Care in Children With Hereditary Epidermolysis Bullosa
clinical trial
NCT05651607 – Evaluation of the Efficacy of CANNABIDIOL on the Pruritus in Children With Hereditary Epidermolysis Bullosa
clinical trial
NCT05248503 – Impact of Complex Care Training of Hereditary Epidermolysis Bullosa on Caregiver Burden (FIREB)
Chronic plaque psoriasis
Research Models and Biological Samples
Therapeutic and Diagnostic Development
Bazex-Dupre-Christol syndrome
Research Models and Biological Samples
Therapeutic and Diagnostic Development
Darier disease (DD)
Research Models and Biological Samples
Samples
DNA – Fibrobastes – Skin biopsies samples from patients with DD
In vitro models
Immortalized keratinocytes
Therapeutic and Diagnostic Development
Samples
DNA – Fibrobastes – Skin biopsies samples from patients with DD
In vitro models
Immortalized keratinocytes
Primary erythermalgia
Research Models and Biological Samples
Therapeutic and Diagnostic Development
Recessive dystrophic epidermolysis bullosa (RDEB)
Research Models and Biological Samples
In vivo models
cCOL7A1-/- KO mice/KI mice humanized mouse models
Protocols
Exon skipping (GeneGraft protocol) – Equivalent skin (dermis-epidermis) model for grafting on mice-COL7A1 Elisa test
Samples
Fibroblasts from patients
In vitro models
Immortalized keratinocytes – rCOL7A1 immortalized cells (RDEB)
Therapeutic and Diagnostic Development
Patents
Exon skipping strategy for Dystrophic Epidermolysis bullosa (DEB) using triclyclo DNA antisense oligonucleotides targeting exons of COL7A1
clinical trial
NCT04908215 – A Randomised Double-Blind Vehicle-Controlled Phase 2 Study of Topically Applied INM-755 (Cannabinol) Cream in Patients With Epidermolysis Bullosa
clinical trial
NCT04186650 – Ex Vivo Gene Therapy Clinical Trial for RDEB Using Genetically Corrected Autologous Skin Equivalent Grafts
clinical trial
NCT05464381 – Allogeneic ABCB5-positive Dermal Mesenchymal Stromal Cells for Treatment of Epidermolysis Bullosa (Phase III Cross-over)
In vivo models
cCOL7A1-/- KO mice/KI mice humanized mouse models
Protocols
Exon skipping (GeneGraft protocol) – Equivalent skin (dermis-epidermis) model for grafting on mice-COL7A1 Elisa test
Samples
Fibroblasts from patients
In vitro models
Immortalized keratinocytes – rCOL7A1 immortalized cells (RDEB)
Patents
Exon skipping strategy for Dystrophic Epidermolysis bullosa (DEB) using triclyclo DNA antisense oligonucleotides targeting exons of COL7A1
clinical trial
NCT04908215 – A Randomised Double-Blind Vehicle-Controlled Phase 2 Study of Topically Applied INM-755 (Cannabinol) Cream in Patients With Epidermolysis Bullosa
clinical trial
NCT04186650 – Ex Vivo Gene Therapy Clinical Trial for RDEB Using Genetically Corrected Autologous Skin Equivalent Grafts
clinical trial
NCT05464381 – Allogeneic ABCB5-positive Dermal Mesenchymal Stromal Cells for Treatment of Epidermolysis Bullosa (Phase III Cross-over)
Omlstedt syndrome
Research Models and Biological Samples
Therapeutic and Diagnostic Development
Non-bullous congenital ichthyosiform erythoderma (NBCIE)
Research Models and Biological Samples
Therapeutic and Diagnostic Development
Lamellar ichthyosis
Research Models and Biological Samples
Therapeutic and Diagnostic Development
Junctional epidermolysis bullosa (JEB)
Research Models and Biological Samples
Therapeutic and Diagnostic Development
clinical trial
NCT04908215 – A Randomised Double-Blind Vehicle-Controlled Phase 2 Study of Topically Applied INM-755 (Cannabinol) Cream in Patients With Epidermolysis Bullosa
clinical trial
NCT04908215 – A Randomised Double-Blind Vehicle-Controlled Phase 2 Study of Topically Applied INM-755 (Cannabinol) Cream in Patients With Epidermolysis Bullosa
Hailey-Hailey disease (HHD)
Research Models and Biological Samples
Therapeutic and Diagnostic Development
Epidermolysis bullosa simplex (EBS)
Research Models and Biological Samples
Therapeutic and Diagnostic Development
clinical trial
NCT02470689 – Diacerin for the Treatment of Epidermolysis Bullosa Simplex
clinical trial
NCT04908215 – A Randomised Double-Blind Vehicle-Controlled Phase 2 Study of Topically Applied INM-755 (Cannabinol) Cream in Patients With Epidermolysis Bullosa
clinical trial
NCT02470689 – Diacerin for the Treatment of Epidermolysis Bullosa Simplex
clinical trial
NCT04908215 – A Randomised Double-Blind Vehicle-Controlled Phase 2 Study of Topically Applied INM-755 (Cannabinol) Cream in Patients With Epidermolysis Bullosa
Ectodermal dysplasia
Research Models and Biological Samples
Therapeutic and Diagnostic Development
Patents
Methods and compositions for promoting wound healing in subject suffering from ectodermal dysplasias
clinical trial
NCT05378932 – Impact of Dysregulation of Core Body Temperature on Sleep in Patients With Hypohidrotic Ectodermal Dysplasia
Patents
Methods and compositions for promoting wound healing in subject suffering from ectodermal dysplasias
clinical trial
NCT05378932 – Impact of Dysregulation of Core Body Temperature on Sleep in Patients With Hypohidrotic Ectodermal Dysplasia