Active clinical trials

This page provides details and links to ongoing clinical trials on genetic skin diseases in the UK, Europe and the rest of the world. This page will be updated every year (last updated 3 March 2021)

 

United Kingdom of Great Britain and Northern Ireland

Disease under investigation

Epidermolysis bullosa

Study title

Double blinded placebo control study of Mesenchymal Intravenous Stromal cell Infusions in children with recessive dystrophic Epidermolysis Bullosa (MissionEB)

Study synopsis

This is a randomised, placebo controlled, double blinded, crossover trial with an internal phase 1 dose de-escalation trial in the first 3 months and a 12 month continued treatment follow-on open-label study following review of the data. The internal phase 1 dose de-escalation trial is for safety gatekeeping of the proposed dose, with the option of halving the dose if recommended by the data monitoring and ethics committee (DMEC). The open label non-randomised study will go ahead if the treatment is found to be effective during the randomised crossover trial.

Clinical trial registration no.

EudraCT: 2020-005049-18

ISRCTN (TBC)

Study website 

Country

UK (Great Ormond Street Hospital and Birmingham Children’s Hospital)

Disease under investigation

Epidermolysis bullosa

Study title

An interventional, multicenter, single arm, phase I/IIa clinical trial to investigate the efficacy and safety of allo-APZ2-EB on epidermolysis bullosa (EB)

Study synopsis

Study to investigate the efficacy and safety of allo-APZ2-EB on wound healing of epidermolysis bullosa

Clinical trial registration no.

EudraCT: 2018-001009-98

 

Country

UK, Germany, Austria, France, Italy

 

Disease under investigation

Epidermolysis bullosa

Study title

An Interventional, Multicenter, Single Arm, Phase I/IIa Clinical Trial to Investigate the Efficacy and Safety of Allo-APZ2-EB on Epidermolysis Bullosa (EB)

Study synopsis

The aim of this clinical trial is to investigate the efficacy (by monitoring overall improvement of EB symptoms) and safety (by monitoring adverse events) of three doses of allo-APZ2-EB administered intravenously to patients with recessive dystrophic epidermolysis bullosa (RDEB).

Clinical trial registration no.

NCT03529877

Country

UK, Italy, Germany, France, Austria, United States

 

Disease under investigation

Lamellar ichthyosis

Study title

A Phase 2 Randomized, Multi-center, Double-blind, Vehicle-controlled, 12-Week, Safety, Efficacy, and Systemic Exposure Study followed by a 12-Week Open-label Extension of Trifarotene (CD5789) Cream HE1 in Adultsand Adolescents with Autosomal Recessive Ichthyosis with Lamellar Scale

Study synopsis

A clinical study of Trifarotene Cream in Adults and Adolescents with Lamellar Ichthyosis

Clinical trial registration no.

EudraCT: 2018-003272-12

 

Country

UK, France, Germany, Spain

 

Disease under investigation

Epidermolysis bullosa

Study title

A Multi-center Study to Evaluate the Pharmacokinetics of Diacerein and Rhein and the Safety of Diacerein after Maximum Use, Topical Administration of CCP-020 (Diacerein 1% ointment) to Patients with Epidermolysis Bullosa (EB)

Study synopsis

The primary objective of the study is to characterize the single-dose and steady- state pharmacokinetics (PK) of diacerein and its active metabolite, rhein, after topical application of CCP-020 (diacerein 1% ointment) under maximum use conditions in adult, adolescent and in infants/children with EB. The secondary objective of the study is to assess the safety and tolerability of single-dose and steady-state topical application of CCP-020 (diacerein 1% ointment) in patients with EB.

Clinical trial registration no.

EudraCT: 2018-000439-29

 

Country

UK, Netherlands

 

Europe

Disease under investigation

Congenital ichthyosis

Study title

Treatment of Skin Severity in Ichthyosis with Hyperbaric Oxygen Therapy

Study synopsis

This clinical trial assesses the safety and feasibility of hyperbaric oxygen therapy in patients with ichthyosis.

Clinical trial registration no.

EudraCT: 2019-003601-10

Country

Netherlands

 

Disease under investigation

Epidermolysis bullosa simplex generalized severe

Study title

A 12-Week Multicentre, Randomized, Blinded, Parallel-Group Study Comparing the Efficacy and Safety of Ixekizumab to Placebo in Patients > 6 years of age with EB simplex generalized severe

Study synopsis

This clinical trial compares the Efficacy and Safety of Ixekizumab to Placebo in Patients > 6 years of age with EB simplex generalized severe.

Clinical trial registration no.

EudraCT: 2020-001542-19

Country

France

 

Disease under investigation

Epidermolysis bullosa simplex generalized severe

Study title

Topical gentamicin treatment of patients with epidermolysis bullosa due to nonsense mutations (the GENTEBULL Study)

Study synopsis

This clinical trial investigates the use of topical gentamicin sulfate 0.1% ointment as treatment of patients with epidermolysis bullosa due to nonsense mutation.

Clinical trial registration no.

EudraCT: 2020-002337-15/

Country

Norway

 

Disease under investigation

Junctional Epidermolysis bullosa

Study title

Multicentre, open-label, uncontrooled, pivotal clinical trial to confirm the efficacy and safety of autologous fibrin-cultured epidermal grafts containing epidermal stem cells genetically modified for restoration of epidermis in patients with junctional epidermolysis bullosa (HOLOGENE 5)

Study synopsis

This is a gene therapy trial for patients with junctional epidermolysis bullosa

Clinical trial registration no.

EudraCT: 2018-000261-36

Country

Italy

 

Disease under investigation

Epidermolysis bullosa and other chronic wounds

Study title

The development of innovative advanced therapy medicinal product (biological dressing of the human race) in the treatment of Epidermolysis Bullosa (EB) and other chronic wounds.

Study synopsis

The main objective of the trial is to evaluate the safety of BIOOPA dressing.

Clinical trial registration no.

EudraCT: 2018-003890-91

Country

Poland

 


Disease under investigation

Netherton Syndrome

Study title

A randomized double-blinded pilot study of the efficacy and safety of dupilumab versus placebo in patients with Netherton syndrome

Study synopsis

A pilot study of the efficacy and safety of dupilumab versus placebo in patients with Netherton syndrome

Clinical trial registration no.

EudraCT: 2019-001220-35

Country

France

 

Disease under investigation

Recessive dystrophic epidermolysis bullosa

Study title

Safety and preliminary efficacy study of infusing mesenchymal stem cells derived from bone marrow for treating Recessive Dystrophic Epidermolysis Bullosa.

Study synopsis

Safety study of mesenchymal stem cells in the treatment of Recessive Dystrophic Epidermolysis Bullosa.

Clinical trial registration no.

EudraCT: 2017-000606-37

Country

France

 

Disease under investigation

Epidermolysis bullosa

Study title

Injections of Botulinic Toxin in Plantar Lesions of Localized Epidermolysis Bullosa Simplex (EBTox)

Study synopsis

The investigators hypothesize that palmar injections of botulinic toxin, via an inhibition of the sudation, would limit the occurrence of blisters in localized epidermolysis bullosa simplex (LEBS).

Clinical trial registration no.

NCT03453632

Country

France

 

Disease under investigation

Epidermolysis bullosa

Study title

Double-blind, Randomised, Vehicle-controlled, Phase III, Efficacy and Safety Study with 24-month Open-label Follow up of Oleogel-S10 in Patients with Inherited Epidermolysis Bullosa

Study synopsis

The primary objective of the double-blind phase is to compare the efficacy of Oleogel-S10 (treatment arm A) with vehicle (treatment arm B) in the promotion of healing of EB partial thickness wounds. This will be assessed as evidenced by the incidence of the first complete closure of the EB target wound

Clinical trial registration no.

EudraCT: 2016-002066-32

NCT03068780

Country

Australia, Austria, France, Germany, Greece, Hong Kong, Ireland, Israel, Italy, Spain, Switzerland

 

Disease under investigation

Epidermolysis bullosa

Study title

Phase I/II ex vivo gene therapy clinical trial for recessive dystrophic epidermolysis bullosa using skin equivalent grafts genetically corrected with a COL7A1-encoding SIN retroviral vector (GENEGRAFT)

Study synopsis

GENEGRAFT is a first Phase I/II clinical trial aiming at treating up to 6 selected RDEB patients. The approach uses autologous skin equivalents genetically corrected with a safe (SIN) retroviral vector expressing type VII collagen

Clinical trial registration no.

 

Country

United Kingdom, France, Germany, Austria, Italy

Link

European Commission Project Reference: 261392

Publication

Doi: 10.1089/humc.2014.2508

 

Disease under investigation

Epidermolysis bullosa

Study title

An Open Label, Multi-center, Extension Study to Evaluate the Long-term Safety of Zorblisa (SD-101-6.0) in Patients with Epidermolysis Bullosa

Study synopsis

This study aims to Evaluate the Long-term Safety of Zorblisa in Patients with in patients with Simplex, Recessive Dystrophic, and Junctional non-Herlitz Epidermolysis Bullosa

Clinical trial registration no.

EudraCT Number: 2014-005679-96

Country

Austria, Netherlands, United Kingdom, Germany, Poland, Spain, Lithuania

 

Disease under investigation

Epidermolysis Bullosa Simplex and Pachyonychia congenita

Study title

Botulinumtoxin A Treatment in Epidermolysis Bullosa Simplex and Pachyonychia congenital-a double-blind placebo-controlled phase II proof of concept study

Study synopsis

This is a phase II study to evaluate the use of Botulinumtoxin A as a treatment of children and adult patients with epidermolysis bullosa simplex and pachyonychia congenital.

Clinical trial registration no.

EudraCT Number: 2009-010763-17

Country

Sweden

 

Disease under investigation

Epidermolysis bullosa (Simplex, Recessive Dystrophic, Junctional non Herlitz)

Study title

A Phase 3, Multi-center, Randomized, Double-Blind, Placebo Controlled Study of the Efficacy and Safety of SD-101 Cream in Patients with Epidermolysis Bullosa

Study synopsis

This is a phase III study to investigate the efficacy and safety of topical SD-101 cream in patients with epidermolysis bullosa.

Clinical trial registration no.

EudraCT Number: 2014-002288-14

NCT02090283

Country

Austria; United States; Netherlands; Italy; Germany; Poland, Lithuania, Belgium

 

Disease under investigation

Recessive dystrophic epidermolysis bullosa

Study title

Traitement des épidermolyses bulleuses dystrophiques héréditaires par l’épigallocatéchine-3-gallate oral (Polyphenon E®)

Study synopsis

The primary purpose of this study is to assess the efficacy of oral Polyphenon E in decreasing the number of cutaneous bullosa after four month of treatment.

Clinical trial registration no.

EudraCT Number: 2009-012750-21

Country

France

 

Disease under investigation

Lamellar ichthyosis

Study title

Treatment of recessive nonbullous congenital ichthyosis with topic Epigallocatechin.

Study synopsis

The principal objective of this study is to evaluate the efficacy of topic Polyphenon E(R) in ameliorating skin desquamation and skin roughness in lamellar ichthysosis patients after 4 weeks of treatment.

Clinical trial registration no.

EudraCT Number: 2009-013656-77

Country

France

 

Disease under investigation

Ichthyosis

Study title

Efficacy and tolerance of the emollient cream V0034 CR in the symptomatic treatment of ichthyosis in children. International, multicentric, randomised, controlled, double blind study, in parallel groups V0034 CR versus vehicle.

Study synopsis

The main objective of the study is to demonstrate the efficacy of a 4 weeks treatment by the emollient V0034CR in reducing the disease severity assessed by a specified symptom sum score system on both legs.

Clinical trial registration no.

EudraCT Number: 2006-003369-14

Country

Finland; Estonia; Czech Republic; Netherlands; Germany; Lithuania; France; Latvia; Italy, Spain

 

Disease under investigation

Sjögren Larsson Syndrome

Study title

Application of zileuton (Zyflo CR) in patients with Sjögren Larsson Syndrome

Study synopsis

The main objective of the study is to investigate the effect of Zileuton, a lipooxygenase inhibitor,  on the clinical parameters pruritus, ichthyosis as well as on the urinary concentrations of LTB4 and its metabolite omega-OH-LTB4.

Clinical trial registration no.

EudraCT Number: 2009-015895-87

Country

Netherlands

 

Disease under investigation

Lamellar ichthyosis

Study title

Efficacy and tolerance of Tazarotene cream in lamellar ichthyosis (LI): a dose-finding study.

Study synopsis

The main objective of the study is to assess and compare the short-term efficacy of Tazarotene 0.05% and 0.1% vehicled in an emollient cream in lamellar ichthyosis patients.

Clinical trial registration no.

EudraCT Number: 2006-006878-22

Country

France; Germany

 

Disease under investigation

Epidermolysis bullosa

Study title

A Comparative Study of the Healing of Chronic Skin Ulcers of Recessive Dystrophic Epidermolysis Bullosa : Standard Dressing Versus Amniotic Membrane.

Study synopsis

The aim of this study is to evaluate the efficacy of the amniotic membrane on the healing of chronic ulcers REBD on the percentage ulcerated surface re-epithelialised at 12 weeks (M3) from the start of treatment.

Clinical trial registration no.

NCT02286427

Country

France

 

Disease under investigation

Dystrophic epidermolysis bullosa

Study title

Prospective, open label, uncontrolled clinical trial to assess the safety and efficacy of autologous cultured epidermal grafts containing epidermal stem cells genetically modified with a gamma-retroviral (RV) vector carrying COL7A1 cDNA for restoration of epidermis in patients with recessive dystrophic epidermolysis bullosa.

Study synopsis

The primary objective of the study was to investigate the safety of HOLOGENE 7 up to three months after the first treatment in patients with Epidermolysis Bullosa due to autosomal recessive mutations in the gene encoding for collagen VII (COL7A1).

Clinical trial registration no.

EudraCT: 2015-004592-74

Country

Austria

 

Disease under investigation

Ichthyosis vulgaris

Study title

Comparison of Different Concentrations of Carbamide as Moisturizers in Ichthyosis Vulgaris (UreaIchthyosis)

Study synopsis

A randomized double blinded clinical trial will be conducted comparing the effect of three simple basic moisturizers only different in the concentration of carbamide (urea). Three concentrations of carbamide will be tested, 5, 7.5, and 10 %, respectively. The study will be conducted as a split-body-study and will contain three arms randomized to comparing 5 and 7.5 %, 5 and 10 %, and 7.5 and 10 % carbamide, respectively.

Clinical trial registration no.

NCT02978209

Country

Denmark

 

Rest of the world

Disease under investigation

Epidermolysis bullosa

Study title

A Neurokinin-1 Receptor Antagonist for the Treatment of Pruritus in Patients With Epidermolysis Bullosa

Study synopsis

The purpose of this study is to determine if Serlopitant (when taken by mouth) is safe and works on itch in patients aged 13 and above with EB.

Clinical trial registration no.

NCT03836001

Country

United States

 

Disease under investigation

Ichthyosis

Study title

A Randomized, Parallel, Double-Blind, Vehicle Controlled Study to Evaluate the Safety and Efficacy of Two Concentrations of Topical TMB-001 for the Treatment of Congenital Ichthyosis

Study synopsis

The purpose of this study is to investigate the efficacy and safety of two concentrations of topically applied ointment formulation of isotretinoin called TMB-001 (0.05% and 0.1% isotretinoin) in subjects 9 years of age and older for the treatment of congenital ichthyosis (CI), including recessive X-linked ichthyosis (RXLI) and autosomal recessive congenital ichthyosis-lamellar ichthyosis (ARCI-LI) subtypes.

Clinical trial registration no.

NCT04154293

Country

United States

 

Disease under investigation

Recessive dystrophic epidermolysis bullosa

Study title

A phase I single center trial of gene transfer for recessive dystrophic epidermolysis bullosa using the drug LZRSE-Col7A1 engineered autologous epidermal sheets (LEAES)

Study synopsis

The purpose of this study is to achieve proof-of-concept for this general approach to cell-based gene therapy in humans with recessive dystrophic epidermolysis bullosa.

Clinical trial registration no.

NCT01263379

Country

United States

 

Disease under investigation

Epidermolysis Bullosa

Study title

Biochemical Correction of Severe Epidermolysis Bullosa by Allogeneic Stem Cell Transplantation

Study synopsis

The primary objective of this phase II study is to estimate the event-free survival rate by 1 year post-transplant with an event defined as a death or failure to have a demonstrable increase in collagen, laminin, integrin, keratin or plakin deposition by 1 year post-transplant or other biochemical, structural or physical measure of improvement.

Clinical trial registration no.

NCT01033552

Country

United States

 

Disease under investigation

Epidermolysis bullosa

Study title

An Australian Study assessing the effects of Avene Thermal Water Spray in patients with recessive dystrophic epidermolysis bullosa

Study synopsis

To determine the efficacy and safety of the Avene Thermal Spring Water (ATSW) in wound healing in patients with recessive dystrophic epidermolysis bullosa. The hypothesis is that the ATSW, instead of bathing, will result in reduced number of infections and improved wound healing.

Clinical trial registration no.

ACTRN12611000677909

Country

Australia

 

Disease under investigation

Epidermolysis bullosa simplex

Study title

Diacerin for the Treatment of Epidermolysis Bullosa Simplex

Study synopsis

This is a single-center, randomized, placebo controlled Phase 2 clinical trial to evaluate the use of diacerin in patients with epidermolysis bullosa simplex.

Clinical trial registration no.

NCT02470689

Country

Israel

 

Disease under investigation

Epidermolysis bullosa

Study title

A phase 1 clinical study to evaluate the safety of ALLO-ASC-DFU in subjects with dystrophic epidermolysis bullosa

Study synopsis

Adipose-derived stem cells have anti-inflammatory effects and release growth factors such as vascular endothelial growth factor and hepatocyte growth factor, which can enhance wound healing and regeneration. This is a phase 1 clinical study to evaluate the safety of ALLO-ASC-DFU in subjects with dystrophic epidermolysis bullosa

Clinical trial registration no.

NCT02579369

Country

Republic of Korea

 

Disease under investigation

Epidermolysis bullosa

Study title

A Phase 1 Study to Evaluate the Safety, Pharmacokinetics and Therapeutic Effect of Topical BPM31510 3.0% Cream in Patients With Epidermolysis Bullosa

Study synopsis

This is a Phase 1 Study to Evaluate the Safety, Pharmacokinetics and Therapeutic Effect of Topical BPM31510 3.0% Cream in Patients (age twelve and above) with Epidermolysis Bullosa

Clinical trial registration no.

NCT02793960

Country

United States

Disease under investigation

Epidermolysis bullosa

Study title

Long Term Open-label Study Evaluating Safety of Diacerein 1% Ointment Topical Formulation in Subjects With Epidermolysis Bullosa Simplex

Study synopsis

The primary objective of this study is to evaluate the long term safety and tolerability of Diacerein 1% Ointment for 2 treatment cycles in subjects with EBS that were previously enrolled in studies CCP-020-301 or CCP-020-101.

Clinical trial registration no.

NCT03389308

Country

United States

 

Disease under investigation

Ichthyosis vulgaris

Study title

A Six Week Topical Cream Study for Subjects With Ichthyosis Vulgaris

Study synopsis

The objective of this study is to determine and compare the safety and efficacy of topical 146-9251 cream and vehicle cream applied twice daily for 6 weeks in subjects with moderate to severe ichthyosis vulgaris (IV).

Clinical trial registration no.

NCT03173547

Country

United States

Disease under investigation

Ichthyosis

Study title

The Efficacy and Safety of Secukinumab in Patients With Ichthyoses

Study synopsis

This is a phase III clinical trial. Recent discoveries of marked elevations in expression of interleukin-17A (IL-17A) and IL-17-related cytokines in the skin of individuals with ichthyosis, which may explain the inflammation. Investigators propose that IL-17-targeting therapeutics will safely suppress the inflammation and possibly the other features of ichthyosis, improving quality of life.

Clinical trial registration no.

NCT03041038

Country

United States

 

 

Disease under investigation

Epidermolysis Bullosa

Study title

Evaluation of the Efficacy of ROPIVACAINE in Children and Young Adults With Hereditary Epidermolysis Bullosa (EBROPI)

Study synopsis

The purpose of this study is to determine whether topical application of Ropivacaine is effective for treating refractory pain during dressing changes and so improve quality of life of patients suffering from hereditary epidermal epidermolysis bullosa.

Clinical trial registration no.

NCT03730584

Country

United States

 

Disease under investigation

Epidermolysis Bullosa

Study title

Evaluation of the Safety and Efficacy Study of RGN-137 Topical Gel for Junctional and Dystrophic Epidermolysis Bullosa

Study synopsis

The objective of this study is to compare the efficacy and safety of RGN-137 topical gel with that of placebo gel for treatment of junctional epidermolysis bullosa (JEB) or dystrophic epidermolysis bullosa (DEB).

Clinical trial registration no.

NCT03578029

Country

United States

 

Disease under investigation

Autosomal recessive congenital ichthyosis (TGM-1)

Study title

A Phase I/II Clinical Trial of Topical KB105, a Replication-incompetent, Non-integrating HSV-1 Vector Expressing Human Transglutaminase 1 (TGM1) for the Treatment of TGM1-deficient Autosomal Recessive Congenital Ichthyosis (ARCI)

Study synopsis

This study is an intra-patient comparison of KB105 and placebo-administered Target Areas. The primary objectives of this study are to evaluate safety and Investigator Global Assessment (IGA) scale improvement of topically administered KB105.

Clinical trial registration no.

NCT04047732

Country

United States

 

Disease under investigation

Recessive dystrophic epidermolysis bullosa

Study title

A Pivotal Phase 3 Study of FCX-007 (Genetically-Modified Autologous Human Dermal Fibroblasts) for Recessive Dystrophic Epidermolysis Bullosa

Study synopsis

DEFI-RDEB is a multi-center, intra-patient randomized, controlled, open-label, Phase 3 study of FCX-007 for the treatment of persistent non-healing wounds in approximately 20 RDEB subjects. Each subject will serve as his/her own control.

Clinical trial registration no.

NCT04213261

Country

United States