GENE THERAPY FOR EPIDERMOLYSIS BULLOSA

Skin affected by Epidermolysis Bullosa

Skin affected by Epidermolysis Bullosa

Epidermolysis Bullosa (EB) is a group of genetic adhesion disorders characterized by fragility of the skin. EB are devastating, highly disfiguring, blistering pathologies that severely impairs the quality of life of patients and affect approximately 500,000 people worldwide (www.debra.org).

Patients with (non lethal) EB develop squamous cell carcinoma with high frequency and have a short life-span expectation. Epidermal stem cell-mediated gene therapy would be the only possible therapy, not only for genodermatoses, but also for other types of genetic skin diseases.

A cultured sheet of genetically corrected epidermis

A cultured sheet of genetically corrected epidermis

In 2006, our scientists published a proof of principle of the feasibility of ex-vivo gene therapy for laminin 332-dependent Junctional Epidermolysis Bullosa (JEB) by means of transplantation of autologous epidermal sheets prepared from genetically corrected epidemal stem cells. This clinical trial showed that ex vivo gene therapy of JEB is feasible and leads to full functional correction of the disease.

Holostem Terapie Avanzate is currently running two Phase I/II clinical trials for combined ex-vivo cell and gene therapy for Recessive Dystrophic  EB and Col17-JEB, implementing a Phase I/II clinical trial for laminin 332-JEB and developing new gene-editing technologies for the treatment of dominant forms of EB, in collaboration with the Centre for Regenerative  Medicine “Stefano Ferrari”.

Stem Cells & Regenerative Medicine

Tissue integrity and regeneration depend on a population of self-renewing somatic stem cells, above all in constantly renewing tissues. Regenerative Medicine refers to innovative therapies aimed at the permanent restoration of diseased tissues and organs.

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Cell Therapy

Autologous cultures of limbal stem cells are routinely used for corneal regeneration and restoration of visual acuity in patients with severe corneal chemical and thermal burns associated to total unilateral or severe bilateral limbal stem cell deficiency.

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Publications

Our scientist are author of over 150 peer-reviewed publications in major international journals.

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