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 4 months (last updated 20 July 2017).

United Kingdom of Great Britain and Northern Ireland

Disease under investigation

Epidermolysis bullosa

Study title

A phase I/II study evaluating allogeneic mesenchymal stromal cells in adults with recessive dystrophic epidermolysis bullosa

Study synopsis

A phase I/II study evaluating allogeneic mesenchymal stromal cells in adults with recessive dystrophic epidermolysis bullosa

Clinical trial registration no.

Eudract: 2014-004500-30

 

Country

United Kingdom

Study protocol

Link to text

 

Disease under investigation

Epidermolysis bullosa

Study title

Phase I study of COL7A1 gene-modified autologous fibroblasts in adults with recessive dystrophic epidermolysis bullosa

Study synopsis

A study to evaluate whether intradermal injections of COL7A1 gene-modified autologous fibroblasts are safe in adults with recessive dystrophic epidermolysis bullosa

Clinical trial registration no.

Eudract: 2014-004884-19

 

Country

United Kingdom

Study protocol

 

  

Disease under investigation

Netherton Syndrome

Study title

Phase I study protocol for ex-vivo lentiviral gene therapy for the inherited skin disease, Netherton Syndrome

Study synopsis

This phase I study evaluates the grafting of autologous epidermal sheets generated from genetically modified skin stem cells for the treatment of patients with Netherton Syndrome.

Clinical trial registration no.

EudraCT Number: 2011-003212-22

NCT01545323

Country

United Kingdom

Study protocol

Link to text

 

Disease under investigation

X-Linked Hypohidrotic Ectodermal Dysplasia

Study title

Phase 2 Study to evaluate Safety, Pharmacokinetics, Immunogenicity and Pharmacodynamics/Efficacy of EDI200 in Male Infants With X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED) (ECP-002)

Study synopsis

This is a phase II study to evaluate safety, pharmacokinetics, immunogenicity and pharmacodynamics/efficacy of EDI200 in male infants with X-linked hypohidrotic ectodermal dysplasia. EDI200 refers to Human immunoglobulin G1 constant region - human ectodysplasin-A1 receptor-binding domain fusion.

Clinical trial registration no.

EudraCT Number: 2012-003561-17

NCT01775462

Country

United Kingdom; Germany

 

Europe

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

  

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

 

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

 

Disease under investigation

Recessive dystrophic epidermolysis bullosa

Study title

Unrelated cord blood transplantation after reduced toxicity conditioning with mesenchymal stromal cell co-infusion in patients with severe epidermolysis bullosa

Study synopsis

This is a phase II study to evaluate stem cell transplantation with cord blood and mesenchymal stem cells after reduced intensity conditioning for patients with severe forms of epidermolysis bullosa.

Clinical trial registration no.

EudraCT Number: 2012-000605-72

Country

Netherlands

 

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

Netherton Syndrome

Study title

Etude de phase II d’un traitment par Humira au cours du syndrome de Netherton

Study synopsis

The objective of the study is to determine the effect of Adalimumab (Humira) in the control of inflammatory manifestations of Netherton syndrome after 3 months of treatment.

Clinical trial registration no.

EudraCT Number: 2013-002205-54

NCT02113904

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

Netherton Syndrome

Study title

Phase II Clinical Trial Using Humira in Netherton Syndrome

Study synopsis

The main objective of this study is to determine the effect of Adalimumab (HumiraR) on clinical inflammatory manifestations of patients with Netherton syndrome after 3 months of treatment, with a post treatment period follow-up of 3 months.

Clinical trial registration no.

NCT02113904

Country

France

 

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

A double-blind, placebo-controlled cross-over study to assess the efficacy of topical calcipotriol (Psorcutan®-ointment containing 0.05 µg/g calcipotriol) to improve wound healing in dystrophic epidermolysis bullosa (DEB)

Study synopsis

The aim of the study is to establish the superiority of topical calcipotriol (Psorcutan®-ointment containing 0.05 µg/g calcipotriol) therapy over placebo with respect to improved wound-healing (40% reduction of wound area in the treatment group compared to placebo after 4 weeks of treatment) for subjects with DEB.

Clinical trial registration no.

EudraCT: 2016-001967-35

Country

Austria

 

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

Spain

 

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

  

Rest of the world

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

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

To assess the efficacy and safety of SD-101-6.0 cream versus SD-101-0.0 (placebo) in the treatment of patients with Epidermolysis Bullosa.

Clinical trial registration no.

NCT02384460

Country

United States

 

Disease under investigation

Epidermolysis bullosa

Study title

Clinical research of bone marrow-derived mesenchymal stem cell transplantation for the patients with epidermolysis bullosa.

Study synopsis

Evaluation of bone marrow-derived mesenchymal stem cell transplantation for the patients with epidermolysis bullosa.

Clinical trial registration no.

JPRN-UMIN000006723

Country

Japan

 

Disease under investigation

Epidermolysis bullosa

Study title

Investigation of micro-needling skin therapy for recessive dystrophic epidermolysis bullosa (RDEB) in Australia to assess median healing time of lesions

Study synopsis

This study assesses the efficacy of microneedling in wound healing for patients with recessive dystrophic epidermolysis bullosa. Symmetrical wounds will be measured and randomised to either treatment (microneedling) or placebo (microneedling without needles)

Clinical trial registration no.

ACTRN12611000668909

 

Country

Australia

 

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

Sjogren-Larsson Syndrome

Study title

A Study of Topical NS2 Cream to Treat Ichthyosis in Sjögren-Larsson Syndrome (SLS)

Study synopsis

This is a single-center, randomized, double-blind, vehicle-controlled, parallel-group study designed to evaluate the safety, PK, and exploratory activity of topically-applied NS2 dermatologic cream administered once-daily (QD) to subjects with ichthyosis secondary to Sjögren- Larsson Syndrome (SLS)

Clinical trial registration no.

NCT02402309

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

Neurokinin-1 Receptor Antagonist for the Treatment of Itch in EB Patients

Study synopsis

This is a randomised, placebo controlled Phase 2 clinical trial to evaluate the use of VPD-737 to control itching in patients with epidermolysis bullosa

Clinical trial registration no.

NCT02654483

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