Setting up of a European project for the treatment of patients with Fanconis Anemia through gene therapy.

-EUROFANCOLEN is the name of the European consortium that will develop this project; this consortium will bring together experts in the research and treatment of Fanconi’s anemia. The Consortium will be coordinated by Dr. Juan a.. Bueren, CIEMAT and researcher of the Center for biomedical research in network of rare diseases (CIBERER)

Madrid, January of 2013- Monday, 28 January, has begun a new project funded by the seventh program framework of the European Union for the treatment of hematologic problem of patients with Fanconi’s anemia through correction of the genetic defect in stem cells from the bone marrow of these patients. The project has failed to get underway thanks to effort for more than ten years of preclinical and clinical research.

For the implementation of this project has been established a European Consortium (EUROFANCOLEN) between scientific experts in the research and treatment of Fanconi’s anemia and in gene therapy for other diseases. In clinical trials to develop new drugs will be used to facilitate the collection of a large number of stem cell hematopoietic (responsible for the formation of blood cells) of the patients.

In a second phase, these cells will be exposed to Lentiviral vectors, modified viruses that carry the therapeutic gene known as FANCA to facilitate the correction of the genetic defect of these stem cell’s lifetime. This therapeutic approach has been already used successfully by researchers of this consortium in patients with congenital immunodeficiencies or β-Thalassemia. Since the new gene, of the family of the lentivirus transfer vector, are showing greater safety and efficacy than the vectors used previously, most clinical trials of gene therapy that are getting underway today use this new family of vectors.

The establishment of the European Consortium EUROFANCOLEN is preceded by a Spanish initiative funded by the Ministry of health, social services and equality, for the treatment of Fanconi’s anemia by gene therapy.

EUROFANCOLEN is coordinated by Dr John a. Bueren, of the Centro de Investigaciones Energéticas, environmental and technology (CIEMAT) and rare diseases (CIBERER), and the Cyber participate the following teams of basic and clinical researchers:

Dr Juan A. Bueren. CIEMAT/CIBERER (s).

DRA. Marina Cavazzana-Calvo. Necker Hospital (Fr).

Dr. Adrian Thrasher. University College London Institute of Child Health and Great Ormond Street Hospital NHS Trust (UK).

Dr. Julian Seville. University children’s Hospital child Jesus (s).

DRA. Cristina day of Heredia. Hospital Vall d ’ Hebron (s).

DRA. Anne Galy. GENETHON (Fr).

Dr. Jean Soulier. Saint Louis Hospital and University Paris (Fr).

Dr. Jordi Surrallés University autonomous Barcelona/CIBERER (s).

Dr. Tobias Paprotka. GATC Biotech AG (Ger).

Dr. Manfred Schmidt. German Cancer Research Center. DKFZ/NCT (Ger).

D. Mario Romero. IDETRA (s).

As scientific advisors to the project are Dr. Eliane Gluckman of the Hospital Saint Louis in Paris, who performed the first transplant of umbilical cord blood, precisely in a patient with Fanconi’s anemia, and Dr. Jakub Tolar, of the Fanconi Anemia Research Foundation (FARF) and the Children ’ s Hospital of Minnesota, one of the hospitals in greater experience in the treatment of patients with this disease.

The public presentation of the project has been carried out on Monday, January 28, at 15 h, in the Auditorium of the CIEMAT (Avenida Complutense 22. (28040 Madrid). The event was the intervention of: Ramón Gavela (Deputy director general of CIEMAT, Madrid, Spain), Eliane Gluckman (Saint Louis Hospital, Paris, France), Marina Cavazzana (Necker Hospital, Paris, France), Adrian Thrasher (University College London, United Kingdom), Fulvio Mavilio (Director Científico de Genethon, France) and Juan Bueren (CIEMAT/CIBERER(, Madrid, Spain).

Summary of the proyecto:

Fanconi anemia is a serious hereditary disease characterized by the failure of the bone marrow, an increase of susceptibility to cancer and birth defects. The transplant allogeneic (which comes from other people) cells hematopoietic stem is currently the only definitive treatment for hematologic manifestations of the disease, although it is often associated with complications of immunosuppression and myelosuppression (decreased activity of the bone marrow) of the patient, to the so-called disease of Graft-versus-host (a rejection to the receptor cells), and a long-term increase in the incidence of squamous cell carcinoma, a certain type of epithelial cancer.

Difficulties in obtaining one sufficient number of stem cells from patients with Fanconi’s anemia and the use of some effective protocols to transfer DNA (suboptimal transduction protocols) have so far limited the success of clinical trials of gene therapy in patients with the disease.

The innovative gene therapy approach proposed by EUROFANCOLEN involves the use of two recent biotechnological innovations. On the one hand, the discovery of new drugs with potent activity to mobilize stem cells from the bone marrow into the peripheral blood. On the other hand, the development of a new vector lentiviral by members of this consortium, approved by the European Commission in December 2010 as a new drug an orphan; i.e., affecting a low proportion of people, for patients with Fanconi anemia.

Therefore, the main objective of this project is the development of a safe and effective gene therapy protocol for patients with Fanconi’s anemia of the subtype A, the most frequent in these patients, the genetic correction of their previously mobilized hematopoietic stem cells in the peripheral blood.