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MIAMI - Monitoring innate immunity in arthritis and mucosal inflammation
Scientific coordinator: Julija Winschel ()
Period: 2013-02-01 - 2016-01-31
In chronic joint disease, only a subgroup of patients has classical autoantibodies, while the other variants are seronegative arthritis syndromes with a predominance of innate immune disturbances. These forms of joint diseases frequently show extra-articular manifestations of epithelial tissues ...
EUROFANCOLEN - Phase I/II Gene Therapy Trial of Fanconi anemia patients with a new Orphan Drug consisting of a lentiviral vector carrying the FANCA gene: A Coordinated International Action
Scientific coordinator: Ana Collados Martín-Posadillo ()
Period: 2013-01-01 - 2017-12-31
Fanconi anemia (FA) is a rare inherited syndrome characterized by the early development of bone marrow failure and increasing predisposition to cancer with age. Allogeneic hematopoietic cell transplantation (alloHCT) is the only curative therapy for hematopoietic manifestations of FA, although ...
RARE-BESTPRACTICES - Platform for sharing best practices for management of rare diseases
Scientific coordinator: Rosa Maria Martoccia ()
Period: 2013-01-01 - 2016-12-31
RARE-Bestpractices will develop a sustainable networking platform, supporting the collection of standardized and validated data and efficient exchange of knowledge and reliable information on rare diseases (RD). RD are characterized by low prevalence (EU – 5:10000 persons). There are more than ...
BIOSID - A bioartificial pancreas to treat type 1 diabetes: optimization of cell survival and function in preclinical and clinical phases
Scientific coordinator: Severine Sigrist ()
Period: 2013-01-01 - 2015-12-31
MAILPAN (MAcroencapsulation of PANcreatic Islets) is a prototype of bioartificial pancreas usable in the human designed to treat type 1 diabetic patients. The prototype was developed along different stages since 1996 and led to the creation of the SME called Defymed in 2011. Next step is now to ...
MEUSIX - Clinical trial of gene therapy for MPS VI - a severe lysosomal storage disorder
Scientific coordinator: Irene Mearelli ()
Period: 2012-12-01 - 2017-11-30
Mucopolysaccharidosis VI (MPS VI, or Maroteaux-Lamy syndrome; OMIM #253200) is a rare lysosomal storage disease caused by deficient activity of arylsulfatase B (ARSB). MPS VI is characterized by growth retardation, corneal clouding, cardiac valve disease, organomegaly, skeletal dysplasia, without ...
NET4CGD - Gene Therapy for X-linked Chronic Granulomatous Disease (CGD)
Scientific coordinator: Jean-Philippe Marin ()
Period: 2012-12-01 - 2016-11-30
This project is focused on the clinical development of a new orphan drug that can rapidly become a new treatment option for patients with the X-linked form of chronic granulomatous disease (X-CGD). This rare primary immune deficiency of phagocytes is caused by mutations in the gp91phox gene. ...
BESTCILIA - Better Experimental Screening and Treatment for Primary Ciliary Dyskinesia
Scientific coordinator: Ingo Niendorf ()
Period: 2012-12-01 - 2015-11-30
Primary Ciliary Dyskinesia (PCD) is a rare genetically heterogeneous disorder which results from dysfunction of motile hair-like organelles (cilia) that results in severe, chronic airways disease. Due to other cilia-related disease mechanisms several other organ systems like the heart can be ...
DESSCIPHER - To decipher the optimal management of systemic sclerosis
Scientific coordinator: Christian Maarten Veldman ()
Period: 2012-12-01 - 2015-11-30
The current approach to diagnosis and management of the rare disease systemic sclerosis (SSc) is based on American College of Rheumatology criteria with low sensitivity and few validated recommendations for the therapy of the disease and its manifold organ manifestations. To overcome these ...
CHILD-EU - Orphans Unite: chILD better together – European Management Platform for Childhood Interstitial Lung Diseases
Scientific coordinator: Petra Erhart ()
Period: 2012-12-01 - 2016-05-31
Children with diffuse lung disease, also called childhood interstitial lung diseases (chILD), may have one of more than 200 entities, the biggest group of respiratory orphan lung diseases. Frequently undiagnosed because of lack of awareness or complex differential diagnosis, they lead to much ...
ODAK - Orphan Drug for Acanthamoeba Keratitis
Scientific coordinator: Philippe Moguérou ()
Period: 2012-12-01 - 2017-11-30
This project will undertake preclinical and clinical research of the Orphan Drug Polihexanide (PHMB). The main objective is to provide a safe and effective drug for the treatment of the rare ocular disease Acanthamoeba keratitis (AK) tested according to international regulatory standards. This ...
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Last updated on 2014-04-08 at 10:55