Preclinical gene therapy of recessive dystrophic EB and the development of a gene therapy approach for dominant dystrophic EB.

DebRA International Current Research Projects

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Preclinical gene therapy of recessive dystrophic EB and the development of a gene therapy approach for dominant dystrophic EB. Ref: Meneguzzi 10.

Name of Researchers:		Dr Guerrino Meneguzzi,

Places of Research:		INSERM U 385, Nice, France

Approved by DebRA Medical & Scientific Advisory Panel:

Budget approved by DebRA central Committee:

Date Commenced:		1 February 2007 duration 3years

SUMMARY OF RESEARCH BEING UNDERTAKEN

The subject of this project is to find a durable and efficient treatment for DEB, the most frequent severe form of the condition. It is caused by mutations in the COL7A1 gene which produces a protein, type VII collagen, the major component of the anchoring fibrils which enable the adhesion of basal keratinocytes of the epidermis and the dermis.

The objective of this project is to develop a gene therapy approach for a permanent treatment of DEB by boosting the defective function of the abnormal COL 7A1 gene by transferring the wild type type VII collagen cDNA into the epidermal stem cells of the patients. The genetically modified cells will then be used to make transplantable skin implants which permanently express recombinant collagen type VII protein at sufficiently high level to promote skin adhesion.

This work is complementary to other DebRA funded projects and the Skintherapy ptogramme.

FINANCIAL SUMMARY

Year 1 Year 2 Year 3

Salaries 23,300 23,300 23,300

Management @5% 1,165 1,165 1,165

Total 24,465 24,465 24,465