Rare connectivetissueand musculoskeletaldiseasesencompass a hugenumber of conditions whichhas a great impact on the helth of patients. Diverse hereditary and autoimmune disaesesassystemicsclerosis, connectivetissue disease, inflammatoryidiopathicmyopaties, undifferentiatedconnectivetissue disease and antiphospholipidsyndrome are included. Diagnostic delay, especially in case of rare manifestation, isunfortunally a common event in thesepatients.
The network ERN ReCONNETisaimedotimproving early diagnosticprocess, patients management, and access to care by virtualdiscussion by expertbelonging to oraffiliated to the network. Telemedicine will facilitate the interaction between Centres. The network isalsoaimedatincreasingscientific knowledge and willencourage to create network registries and database to identify new biologic and clinicalmarkers to facilitate the early diagnosis.
Finally, educationprograms for patients and theirparentswill be developed and new guidelines will be eleborated or implemented in order to favor the clinical research and therapeutic innovation. In this project patient associationswill be activelyinvolved.
Code ORPHA | Code ERN | Denomination |
---|---|---|
RM0030 | Mixed connectivetissue disease | |
RM0010 | Dermatomyositis | |
ORPHA:536 | Systemic lupus erythematosus | |
RCG160 | IgG4 Related Disease | |
RM0010 | Polymyositis | |
RM0120 | Systemicsclerosis | |
RM0021 | Anti-synthetasesyndrome | |
RC0220 | Antiphospholipidsyndrome | |
ORPHA:289390 | Sjögren’ssyndrome | |
ORPHA:90002 | Undifferentiatedconnectivetissue disease |