Orphanet provides information about porphyria in:

Orphanet is the reference portal for information on rare diseases and orphan drugs, for all audiences. Orphanet’s aim is to help improve the diagnosis, care and treatment of patients with rare diseases.

Orphanet services

Orphanet offers a range of freely accessible services:

• An inventory of rare diseases and a classification of diseases elaborated using existing published expert classifications.
• An encyclopaedia of rare diseases in English and French, progressively translated into the other languages of the website.
• An inventory of orphan drugs at all stages of development.
• A directory of expert resources, providing information on expert clinics, medical laboratories, ongoing research projects, clinical trials, registries, networks, technological platforms and patient organisations, in the field of rare diseases, in each of the countries in Orphanet’s consortium.
• An assistance-to-diagnosis tool allowing users to search by signs and symptoms.
• An encyclopaedia of recommendations and guidelines for emergency medical care and anaesthesia.
• A fortnightly newsletter, OrphaNews, which gives an overview of scientific and political current affairs in the field of rare diseases and orphan drugs, in English and French.
• A collection of thematic reports, the Orphanet Reports Series, focusing on overarching themes, directly downloadable from the website.

The organisation and governance of Orphanet

Orphanet is led by a consortium of around 40 countries, coordinated by the French INSERM team. National teams are responsible for the collection of information on expert centres, medical laboratories, ongoing research and patient organisations in their country. All Orphanet teams work according to the Orphanet Standard Operating Procedures.

The French coordinating team is responsible for the infrastructure of Orphanet, management tools, quality control, rare disease inventory, classifications and production of the encyclopaedia.

Orphanet is governed by various committees, which independently supervise the project in order to ensure its coherence, evolution and viability.

At European level

• The Management Board is composed of Orphanet country coordinators. This committee is chaired by the director of the Inserm-Orphanet department. This board identifies funding opportunities and guides the project.
• The Steering Committee is composed of representatives from the agencies and bodies which finance Orphanet’s core services. This committee is chaired by the director of the Inserm-Orphanet department. This committee ensures that Orphanet’s content reflects the policy, strategy or plan at the country level in the field of rare diseases.
• The International Advisory Board is composed of experts proposed by the Management Board and nominated by the Steering committee. Board members are in charge of advising the Steering committee regarding the overall strategy of the project.

At national level

• The National Advisory Board is composed by members nominated by the appropriate legitimate institutions which are defined at country level. The board members contribute with their expertise to Orphanet at country level.

Orphanet’s funding

The infrastructure and coordination activities are funded jointly by Inserm (the French National Institute of Health and Medical Research), the French Directorate General for Health, and the European Commission. Certain services are specifically funded by other partners. Orphanet’s national activities are financed by national institutions and/or specific contracts.

The Activity report of Orphanet

An activity report is produced annually and is published online on the Orphanet website.