An orphan disease is a disease...
- rare: affecting less than one in 2 000
- little-known: in the medical and health administration field
-neglected: very little research, little or no treatment or specific help
|Ollier's disease, or Multiple Enchondromatosis, is a rare bone disorder. Some 120 sufferers are currently known to the association, but there may be between 300 and 500 people affected in France.
The disease attacks the bones and involves the coexistence of at least three asymmetrical localization chondromes. A chondrome is a mass of excess cartilaginous tissue that is not regulated by normal growth and which affects normal bone development.
This can result in, to varying extents and depending on each individual case, deformities, axis deviations, differences in bone length, etc.
Maffucci syndrome occurs when angiomas are linked to multiple enchondromatosis. An angioma is a localised vascular lesion, located in the layers of the skin or subcutaneous tissue (fat, muscles).
Some connected tumours have been observed. There is a risk of developing a chondrosarcoma.
An orphan disease poses a difficult and daily struggle for both sufferers and those around them.
Sufferers and their families encounter difficulties accessing health care, social integration, practical organisation of daily life, and even in their social and administrative dealings.
Since they are so rare and considered 'non profitable', these diseases do not meet the commercial demands of pharmaceutical laboratories, who are reluctant to invest in research for treatment.
There is currently no medical treatment.
Surgery is the only option for some problems: osteotomy (severing the bone in order to reposition it) or lengthening of the bones, etc.
(Some patients have undergone more than fifteen operations)
The Association, set up in 1998 aims to implement and support the necessary resources so as to promote:
- Information on sufferers of Ollier disease and Mafucci syndrome
- Integration at school, professional, economic, social and affective integration of sufferers as well as support to their families and friends
- All types of exchanges with the medical profession, the media and other associations
- Development of basic research and applied research on these illnesses.
A research programme is currently underway in connection with a division of INSERM*
The aim of this project is to explore the hypothesis that the mutations in the genes of certain actors or regulators of signalling pathways IHH-Ptch1 // PTHrP-PTHR1
1) at the heart of enchondromatoses
2) involved in the degeneration of some neoplasms.
If this hypothesis were proved, the possibility of treating enchondromatosis by modulators of these signalling pathways would be investigated further.
The association has financed the transport of blood and bone samples. Other co financing is needed: new transport of samples, material, staff, etc.
*INSERM (Institut National de la Santé et de la Recherche Médicale) is equivalent to a CNRS laboratory in the scientific field
The Association works in collaboration with the French Medical and Scientific Committee
It is associated with the centre de référence for bone diseases
It is a member of SOLHAND and ALLIANCE MALADIES RARES
Site internet : http://www.maffucciandolliers.co.uk/