The Necker-Enfants malades university hospital is a key player in the care of rare and chronic diseases and disabilities. Patients suffering from these diseases account for more than a third of its activity > Order of November 25, 2017 on the labeling of networks of reference centers taking care of rare diseases.
To discover the different specialized teams of our hospital, click on the FLASHING GREY BUTTON corresponding to the group of diseases you are interested in.
There are more than 460 constitutional bone diseases (CBD or MOC in French) listed to date, related to abnormalities in skeletal formation and growth, some of which are more common such as achondroplasia but also osteogenesis imperfecta or multiple exostoses disease.
On Tuesday, March 30, 2021, a small revolution took place at the Necker-Enfants malades hospital. For the first time in France, a patient suffering from achondroplasia (the most common form of dwarfism) started a new therapeutic trial with a test molecule designed to « break » the action of the gene causing this anomaly. This major advance, which aims to allow patients to improve their growth, is far from being a coincidence. The discovery of the gene responsible for this disease (FGFR3) and then of this test molecule (Infigratinib) is, in fact, the fruit of the work carried out by the « molecular and physiopathological bases of osteochondrodysplasias » research team and more particularly by Doctor Laurence Legeai-Mallet, in association with the reference center for constitutional bone diseases (CRMR MOC).
Coordinated by Professor Valérie Cormier-Daire, the reference center for constitutional bone diseases was accredited in 2004 as part of the National Plan for Rare Diseases 1. It is based on multidisciplinary, medical, surgical and biological teams, which have historically been heavily involved in the diagnosis and management of these diseases. It benefits from close scientific cooperation in fundamental research on the molecular basis, physiopathology and therapeutic approaches of these diseases with the dedicated research team (Inserm UMR1163, University of Paris) located in the Imagine institute. The reference center also participates in numerous international clinical trials that provide new therapeutic perspectives.
*data for the year 2019