Orphanet

Orphanet is an organisation and knowledge base dedicated to rare diseases as well as corresponding diagnosis, orphan drugs, clinical trials and expert networks.

The website is managed by a network of academic establishments from 40 countries, led by Inserm, and is a European Union Health Programme Joint Action.

The information is available in the following languages: English, French, German, Dutch, Spanish, Italian, Portuguese, Polish and Czech.

It is possible to find consultants and physicians in charge of an expert centre, biologists in laboratories, researchers, patient organisation representatives, coordinators of networks, principal investigators of clinical trials, managers or contact persons of registries and biobanks.

The results can be sorted either geographically or by specificity; it is also possible to specify medical management, genetic counselling or both, and to search for adult or pediatric clinics.

Drugs without the designation are also included, as long as they have been granted a marketing authorisation with a specific indication for a rare disease.

[10] The clinical trials listed on Orphanet comprise interventional studies aiming to evaluate a drug (substance, or combination) to treat (or prevent) a specific rare disease.

Since beginning collaboration in 2018,[11] the World Health Organization's International Clinical Trials Registry Platform (ICTRP) and Orphanet intend to make clinical trials on rare diseases easily identifiable and findable, thus improving knowledge on rare diseases.