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571 : Rare Genetic Variants Of The Protein-Coding Area Of The Genome and The Risk Of Inhibitor Development: An Exome-Sequencing Study Of 28 Patients With Severe Hemophilia A

Researchers

Presenter

  • Luca Andrea Lotta

Principal Investigators

  • Marco Fornili

  • Federico Ambrogi

  • Flora Peyvandi

  • Maria Elisa Mancuso

  • Elena Santagostino

  • Isabella Garagiola

  • Sabrina Seregni

  • Donna M. Muzny

  • Ginger Metcalf

  • Richard A. Gibbs

  • Elia Biganzoli

Medical Centers

  • Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca Granda, Ospedale Maggiore Policlinico, Milan, Italy

  • Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS C- Granda Ospedale Maggiore Policlinico, Department of Pathophysiology and Transplantation, Universita degli Studi di Milano, Luigi Villa Foundation, Milan, Italy

  • Unit of Medical Statistics, Biometry and Bioinformatics, Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy

  • Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca Granda, Ospedale Maggiore Policlinico, Milan, Italy

  • Human Genome Sequencing Cntr, Baylor College of Medicine, Houston, TX

  • Human Genome Sequencing Center, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX

Locations

  • United States

  • Italy

Companies

  • N/A

Study Components

Therapeutic Area

  • Cardiovascular (CVS)

  • Blood/haematological Diseases

  • Pulmonary/Respiratory Diseases

Disease

  • Hemophilia

  • Venous thrombosis

Biomarkers

  • N/A

Drug/Treatment

  • FVIII

Outcome

  • N/A

Study Design

  • N/A

Phase

  • NA

Study Id's

  • N/A

Sponsors

  • N/A

Result

  • Interim

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