Completed clinical trials

This page provides details and links to completed clinical trials on genetic skin diseases in the UK, Europe and the rest of the world. This page will be continuously updated every 4 months (last updated 1 March 2017).

United Kingdom of Great Britain and Northern Ireland

Disease under investigation

Recessive dystrophic epidermolysis bullosa

Study title

A prospective phase I/II study to evaluate the use of allogeneic mesenchymal stromal cells for the treatment of skin disease in children with recessive dystrophic epidermolysis bullosa (EBSTEM)

Study synopsis

This is a phase I/II study to evaluate the safety of allogeneic intravenously administered mesenchymal stromal cells in 10 children with recessive dystrophic epidermolysis bullosa.

Clinical trial registration no.

ISRCTN46615946

EudraCT Number: 2012-001394-87

MREC Number: 12/LO/1258

Country

United Kingdom

 

 

Disease under investigation

Recessive dystrophic epidermolysis bullosa

Study title

Fibroblast cell therapy enhances initial healing in recessive dystrophic epidermolysis bullosa wounds: results of a randomized, vehicle-controlled trial.

Study synopsis

This was a prospective double-blind, randomized, vehicle-controlled phase II trial to assess the effects of injecting of allogeneic fibroblasts into the margins of 26 chronic erosions in 11 individuals with recessive dystrophic epidermolysis bullosa. Of the 26 erosions, 14 erosions received fibroblasts and 12 with vehicle alone. Study findings showed a single intradermal injection of allogeneic fibroblasts increases the initial rate of erosion healing in subjects with RDEB within the first 28 days but not thereafter.

Clinical trial registration no.

ISRCTN67757229

Country

United Kingdom

Journal

Year of publication

Full text

2013

Br J Dermatol

Link to text

 

Disease under investigation

Epidermolysis bullosa

Study title

Randomised Double Blind Placebo Controlled Cross Over Design of the Efficacy of Topical Morphine for Inflammatory Pain in Children With Epidermolysis Bullosa

Study synopsis

This was a phase IV randomised double-blind placebo controlled cross over design study to assess the efficacy of morphine for inflammatory pain in children with epidermolysis bullosa.

Clinical trial registration no.

NCT00231517

Country

United Kingdom

Europe

Disease under investigation

Generalised epidermolysis bullosa

Study title

A Multicenter, Prospective, Randomized, Open-label, Intra-patient Controlled Study of the Efficacy and Safety of ABH001 for the Treatment of Stalled Chronic Cutaneous Wounds Associated with Generalized Epidermolysis Bullosa

Study synopsis

This was a multicenter, prospective, randomized, open-label, intra-patient controlled study to assess the efficacy and safety of ABH001 for the treatment of stalled chronic cutaneous wounds associated with generalized epidermolysis bullosa in children and adults. ABH001 consists of human dermal fibroblasts cultured on a bioresorbable polyglactin mesh.

Clinical trial registration no.

EudraCT Number: 2012-001815-21

NCT01749306

Country

Spain; Germany; Austria; Portugal

 

Disease under investigation

Epidermolysis bullosa simplex type Dowling-Meara

Study title

Topical diacerein for epidermolysis bullosa: a randomized controlled pilot study.

Study synopsis

This was a pilot study to evaluate the use of topical diacerein 1% for the treatment of blisters in 5 patients with epidermolysis bullosa simplex type Dowling-Meara.

Country

Austria

Journal

Year of publication

Full text

Orphanet J Rare Dis.

2013

Link to text

 

Disease under investigation

Epidermolysis bullosa

Study title

Comparative clinical trial, open label, multicenter, to evaluate the effectiveness and safety of anew therapy for grown chimeric skin treatment of cutaneous lesions of patients with epidermolysis bullosa (Translated from Spanish)

Study synopsis

To assess the efficacy of treatment by local application of chimeric cultured skin patches, versus the use of a non-adherent occlusive dressing. (Translated from Spanish)

Country

 

Clinical trial registration no.

EudraCT Number: 2005-002329-30

 

Disease under investigation

Lamellar ichthyosis

Study title

A Randomized, Double-blind, Placebo-controlled Phase II/III Trial to Evaluate the Efficacy and Safety of 2 Doses of Oral Liarozole (75 mg od and 150 mg od) Given During 12 Weeks in Lamellar Ichthyosis

Study synopsis

This was a double-blind, multinational, parallel phase II/III trial to demonstrate the efficacy and safety of once-daily oral liarozole in the treatment of moderate/severe lamellar ichthyosis.

Clinical trial registration no.

NCT00282724

EudraCT Number: 2005-000842-35

Country

Germany; Sweden; Italy; Belgium; France; Netherlands; Norway; United States; Canada; Dominican Republic

Journal

Year of publication

Full text

Br J Dermatol.

2014

Link to text

 

Disease under investigation

Ichthyosis (non-bullous forms)

Study title

Association of glycerol and paraffin in the treatment of ichthyosis in children: an international, multicentric, randomized, controlled, double-blind study.

Study synopsis

This was a prospective, multi-center, randomized, placebo controlled study to demonstrate the efficacy of Dexeryl® in reducing severity of ichthyosis in patients under 18 years of age suffering from a non-bullous form of ichthyosis. A total of 265 patients were recruited from 21 centers in 12 countries. Dexeryl® showed a significant improvement in xerosis and related symptoms in children with ichthyosis and was well tolerated.

Country

France

Journal

Year of publication

Full text

J Eur Acad Dermatol Venereol.

2012

Link to text

Disease under investigation

Ichthyosis (ARCI, X-linked ichthyosis)

Study title

Short- and medium-term efficacy of specific hydrotherapy in inherited ichthyosis.

Study synopsis

This was a prospective, open-label, multi-center trial to assess the short- and medium-term efficacy of hydrotherapy on quality of life and clinical symptoms of 20 children and 24 adults with inherited ichthyosis. Findings showed hydrotherapy led to improvement of quality of life and clinical symptoms in patients with inherited ichthyoses.

Country

France

Journal

Year of publication

Full text

Br J Dermatol.

2011

Link to text

 

Disease under investigation

Lamellar ichthyosis

Study title

Efficacy, safety and pharmacokinetics of 2 concentrations and 2 dosage regimens of CD5789 in subjects with Lamellar Ichthyosis

Study synopsis

This was a phase II trial to evaluate the efficacy, safety and pharmacokinetics of 2 concentrations and 2 dosage regimens of topical CD5789 cream in adults with lamellar ichthyosis.

Clinical trial registration no.

EudraCT Number: 2013-001796-20

Country

Germany; Sweden

Disease under investigation

Lamellar ichthyosis

Study title

Clinical efficacy and safety of Tazarotene Cream 0.05% in the initial and maintenance therapies of lamellar ichthyosis (LI)

Study synopsis

This was a phase III trial to evaluate the clinical efficacy and safety of Tazarotene Cream 0.05% as the initial and maintenance therapies of children and adults with lamellar ichthyosis.

Clinical trial registration no.

EudraCT Number: 2010-022284-35

Country

Italy; Sweden; Germany; Austria

 

Disease under investigation

Netherton Syndrome

Study title

A first–in-human study to evaluate safety and tolerability of repeated topical administrations of BPR277 ointment in healthy volunteers, and safety, tolerability, and preliminary efficacy of multiple topical administrations of BPR277 in patients with atopic dermatitis and Netherton syndrome

Study synopsis

This was a phase I/II trial to evaluate the safety and tolerability of repeated topical administrations of topical BPR277 ointment in healthy volunteers, and safety, tolerability, and preliminary efficacy of multiple topical administrations of BPR277 ointment in adult patients with atopic dermatitis and Netherton syndrome

Clinical trial registration no.

EudraCT Number: 2011-000917-38

NCT01428297

Country

Germany; Netherlands; United States

Disease under investigation

Epidermolysis bullosa

Study title

A Comparative Open-Label Multicentre Clinical Trial To Assess The Efficacy And Safety Of A New Therapy With Cultured Chimeric Skin For The Treatment Of Skin Lesions In Patients With Epidermolysis Bullosa

Study synopsis

This was a phase II, comparative, open label, prospective, multi-center clinical trial where each patient underwent two procedures; implant of a patch of cultured chimeric skin (experimental therapy) in a half of the skin lesion and an occlusive non-adherent dressing (control) in the other half for 12 months of follow-up in two Spanish centers.

Clinical trial registration no.

NCT00987142

Country

Spain

 

Disease under investigation

Recessive dystrophic epidermolysis bullosa

Study title

Bicentric, Open and Pilot Study Evaluating the Efficiency and the Tolerance of the Photodynamic Therapy in the Treatment of Epidermal Dysplasia for Patients Affected by Hereditary Dystrophic Epidermolysis Bullosa

Study synopsis

The main objective of this study is to determine the efficiency of photodynamic therapy in the treatment of epidermal dysplasia for patients affected by dystrophic epidermolysis bullosa.

Clinical trial registration no.

NCT02004600

 

Country

France

 

Disease under investigation

Recessive dystrophic epidermolysis bullosa

Study title

Oral epigallocatechin-3-gallate for treatment of dystrophic epidermolysis bullosa: a multicentre, randomized, crossover, double-blind, placebo-controlled clinical trial.

Study synopsis

The aim of this randomized, crossover double-blind placebo controlled clinical trial is to evaluate if epigallocatechin-3-gallate (EGCG), a green tea extract, might improve the phenotype of RDEB patients.

Clinical trial registration no.

NCT00951964

Country

France

Journal

Year of publication

Full text

Orphanet J Rare Dis.

2016

Link to text


 

Rest of the world

Disease under investigation

Recessive dystrophic epidermolysis bullosa

Study title

Bone marrow transplantation for recessive dystrophic epidermolysis bullosa.

Study synopsis

Seven children who had recessive dystrophic epidermolysis bullosa were treated with immunomyeloablative chemotherapy and allogeneic stem-cell transplantation. Increased C7 deposition and a sustained presence of donor cells were found in the skin of children with recessive dystrophic epidermolysis bullosa after allogeneic bone marrow transplantation.

Clinical trial registration no.

NCT00478244

Country

United States

Journal

Year of publication

Full text

N Engl J Med.

2010

Link to text

 

Disease under investigation

Recessive dystrophic epidermolysis bullosa

Study title

A phase II randomized vehicle-controlled trial of intradermal allogeneic fibroblasts for recessive dystrophic epidermolysis bullosa.

Study synopsis

This was a phase II double-blinded randomized controlled trial of intralesional allogeneic cultured fibroblasts in suspension solution versus suspension solution alone for wound healing in 5 adult patients with generalized severe recessive dystrophic epidermolysis bullosa.

Clinical trial registration no.

ACTRN12610000760077

Country

Australia and New Zealand

Journal

Year of publication

Full text

J Am Acad Dermatol

2013

Link to text

 

Disease under investigation

Recessive dystrophic epidermolysis bullosa

Study title

Mycophenolate mofetil: a novel immunosuppressant in the treatment of dystrophic epidermolysis bullosa, a randomized controlled trial.

Study synopsis

In this randomized controlled double-blinded study, 18 patients with severe generalized epidermolysis bullosa received cyclosporine and 17 received myocophenolate mofetil. The group of patients receiving mycophenolate mofetil experienced a statistically significant improvement in the disease extent as compared to the cyclosporine group but there was no statistically significant difference in the number of new blisters and the rate of healing of blisters.

Country

Egypt

Journal

Year of publication

Full text

J Dermatolog Treat.

2013

Link to text

Disease under investigation

Recessive dystrophic epidermolysis bullosa

Study title

The efficacy of trimethoprim in wound healing of patients with epidermolysis bullosa: a feasibility trial.

Study synopsis

This was a feasibility study using a prospective, randomized, double-blinded, placebo-controlled, crossover design to examine the efficacy of trimethoprim in healing chronic wounds in 10 patients with recessive dystrophic epidermolysis bullosa and to examine the effect of trimethoprim on lesion counts, quality of life, and emergence of antibiotic resistance.

Country

Canada

Journal

Year of publication

Full text

J Am Acad Dermatol.

2012

Link to text

 

Disease under investigation

Netherton Syndrome

Study title

Exploratory Safety and Systemic Absorption of Elidel (Pimecrolimus) 1% Cream for the Treatment of Netherton Syndrome

Study synopsis

The purpose of this study was to determine if Elidel was safe, to see whether the medication was absorbed through the skin, and to see if side effects were associated with its use in children with Netherton syndrome.

Clinical trial registration no.

NCT00208026

Country

United States

 

Disease under investigation

Epidermolysis Bullosa

Study title

Autologous Transplantation of Cultured Fibroblast on Amniotic Membrane for Mitten Hand Deformity in Patients With Epidermolysis Bullosa

Study synopsis

The purpose of this study was to assess the safety of autologous transplantation of cultured fibroblast on amniotic membrane for children and adults them.

Clinical trial registration no.

NCT01908088

Country

Iran

 

Disease under investigation

Epidermolysis bullosa (junction and dystrophic)

Study title

A Prospective, Multicenter, Within Subject Controlled Study to Evaluate the Effect of Apligraf in Nonhealing Wounds of Subjects With Junctional or Dystrophic Epidermolysis Bullosa

Notes

The study was terminated due to insufficient patient enrollment

Clinical trial registration no.

NCT00587223

Country

United States

Disease under investigation

Epidermolysis Bullosa

Study title

Open-label, Pilot Study to Investigate the Safety and Tolerability of Alwextin 3.0% Cream in the Treatment of Epidermolysis Bullosa

Study synopsis

This was an open-label study in which 8 enrolled subjects with epidermolysis bullosa were assigned to receive the study medication, allantoin 3% cream. Subjects were instructed to apply allantoin 3% cream once daily to the entire body.

Clinical trial registration no.

NCT00825565

Country

United States

Disease under investigation

Recessive dystrophic epidermolysis bullosa

Study title

Efficacy of Granulocyte Colony Stimulating Factor (GCSF) In Patients With Dystrophic Epidermolysis Bullosa

Study synopsis

This is a feasibility study to assess if granulocyte colony stimulating factor is effective as a treatment of dystrophic epidermolysis bullosa.

Clinical trial registration no.

NCT01538862

Country

United States

 

Disease under investigation

Pachyonychia Congenita

Study title

Topical Sirolimus for Plantar Keratoderma in Adults With Pachyonychia Congenita (PC)

Study synopsis

The primary objective of this study is to assess the safety of topical sirolimus (TD201) 1% for plantar keratoderma for the treatment of pachyonychia congenita. This study would also like to assess the potential of sirolimus (TD201) to improve the clinical severity of plantar keratoderma, including pain

Clinical trial registration no.

NCT02057614

Country

United States