Skip to main content
Go to the home page of the European Commission (opens in new window)
English en
CORDIS - EU research results
CORDIS
Content archived on 2024-05-07

Metabolic correction of hepatoerythropoietic porphyria by retrovirus- mediated gene transfer

Objective



Hepatoerytropoietic porphyria (HEP) is an inherited metabolic disorder characterised by the accumulation of porphyrins resulting from a deficiency in uroporphyrinogen decarboxylase (UROD). This autosomal recessive disorder has been chosen as a model of hematopoietic disease amenable to gene therapy. The disease is severe, starting early in infancy with no specific treatment and gene therapy would represent a great therapeutc improvement. A gene transfer strategy in hematopoiefic cells using retoviral vectors is proposed.
As first step, the efficiency of the viral constructs is tested on human fibroblasts and lymphoblastoid cells which are easy to obtain. At the next step gene transfer is performed in hematopoietic cells obtained from peripheral blood. In the different target cells, the integration of proviral sequences and their expression is checked in short term and long term cultures. In UROD deficient cells, the metabolic correction is analysed in terms of UROD activity and porphyrin accumulation. Finally, the most appropiate viral construct will be used further, ideally in an animal model of the disease, before the design of a human gene therapy clinical protocol.

Fields of science (EuroSciVoc)

CORDIS classifies projects with EuroSciVoc, a multilingual taxonomy of fields of science, through a semi-automatic process based on NLP techniques. See: The European Science Vocabulary.

You need to log in or register to use this function

Programme(s)

Multi-annual funding programmes that define the EU’s priorities for research and innovation.

Topic(s)

Calls for proposals are divided into topics. A topic defines a specific subject or area for which applicants can submit proposals. The description of a topic comprises its specific scope and the expected impact of the funded project.

Call for proposal

Procedure for inviting applicants to submit project proposals, with the aim of receiving EU funding.

Data not available

Funding Scheme

Funding scheme (or “Type of Action”) inside a programme with common features. It specifies: the scope of what is funded; the reimbursement rate; specific evaluation criteria to qualify for funding; and the use of simplified forms of costs like lump sums.

RGI - Research grants (individual fellowships)

Coordinator

Université de Bordeaux II
EU contribution
No data
Address
146,Rue Léo Saignat
33076 Bordeaux
France

See on map

Total cost

The total costs incurred by this organisation to participate in the project, including direct and indirect costs. This amount is a subset of the overall project budget.

No data

Participants (1)

My booklet 0 0