Orphanet is an organisation and knowledge base dedicated to

rare disease A rare disease is any disease that affects a small percentage of the population. In some parts of the world, the term orphan disease describes a rare disease whose rarity results in little or no funding or research for treatments, without financi ...

s as well as corresponding

diagnosis Diagnosis (: diagnoses) is the identification of the nature and cause of a certain phenomenon. Diagnosis is used in a lot of different academic discipline, disciplines, with variations in the use of logic, analytics, and experience, to determine " ...

orphan drug An orphan drug is a medication, pharmaceutical agent that is developed to treat certain rare medical conditions. An orphan drug would not be profitable to produce without government assistance, due to the small population of patients affected by th ...

clinical trial Clinical trials are prospective biomedical or behavioral research studies on human subject research, human participants designed to answer specific questions about biomedical or behavioral interventions, including new treatments (such as novel v ...

s and expert networks. Orphanet was founded in France in 1997 by

Inserm The (Inserm, ) is the French National Institute of Health and Medical Research. History and organisation Inserm was created in 1964 as a successor to the French National Institute of Health. Inserm is the only public research institution ...

, the French National Institute of Health and Medical Research. 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. It contains content for both physicians and patients. Its administrative office is in

Paris Paris () is the Capital city, capital and List of communes in France with over 20,000 inhabitants, largest city of France. With an estimated population of 2,048,472 residents in January 2025 in an area of more than , Paris is the List of ci ...

and its official

medical journal A medical journal is a peer-reviewed scientific journal that communicates medical information to physicians, other health professionals. Journals that cover many medical specialties are sometimes called general medical journals. History The first ...

is the '' Orphanet Journal of Rare Diseases'' published on its behalf by

BioMed Central BioMed Central (BMC) is a United Kingdom-based, for-profit scientific open access publisher that produces over 250 scientific journals. All its journals are published online only. BioMed Central describes itself as the first and largest open a ...

. , the site provides information on over 6,100 rare diseases and 5,400 genes.

Available information

Orphanet is an online

database In computing, a database is an organized collection of data or a type of data store based on the use of a database management system (DBMS), the software that interacts with end users, applications, and the database itself to capture and a ...

with the goal of gathering, providing and improving knowledge on rare diseases and to improve the diagnosis, care and treatment of patients with rare diseases. By listing rare diseases, and maintaining a standard nomenclature of rare diseases (ORPHAcodes), Orphanet contributes to making them more visible in health and research information systems. The information is available in the following languages: English, French, German, Dutch, Spanish, Italian, Portuguese, Polish and Czech. The website does not feature any advertising.

Rare disease directory

There are various possibilities to search for diseases affecting less than 1 person per 2000 (based on data from Europe). The search is either possible by entering the name of the disease, such as

progeria Progeria is a specific type of progeroid syndrome, also known as Hutchinson–Gilford syndrome or Hutchinson–Gilford progeroid syndrome (HGPS). A single gene mutation is responsible for causing progeria. The affected gene, known as lamin A ( ...

for instance, to receive information about the prevalence and a definition. A specific disease can also be searched for by entering the ICD code, the OMIM code or the name of the gene associated with the disease.

Diagnostic tests and testing facility directory

Information on

diagnostic tests A medical test is a medical procedure performed to detect, diagnose, or monitor diseases, disease processes, susceptibility, or to determine a course of treatment. Medical tests such as, physical and visual exams, diagnostic imaging, genetic t ...

conducted in order to establish a diagnosis of a rare disease and laboratories with the technical competence to carry them out can be found in the section ''diagnostic tests''. Constitutional genetic tests are also registered for non-rare diseases, for diseases with a genetic susceptibility and for pharmacogenetics. Searches can be conducted either by country, speciality, objective, technique or purpose.

Professional and institution directory

Professionals

Professionals working in the field of rare diseases can be found in this section, if they have agreed to be listed. 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.

Institutions

The list of institutions includes for example, institutions hosting expert centres, research or clinical laboratories, patient organisations, institutions hosting registries or biobanks. The information displayed is provided by the professionals working in the institution who have agreed to be listed.

Expert centre directory

By entering the respective rare disease one can find information on corresponding centres of expertise or networks of centres of expertise dedicated to the medical management and/or genetic counselling. The list comprises medical management centres officially designated by the health authorities in the country and centres offering genetic counselling and genetic consultations for any genetic disease or for a particular genetic disease or group of diseases. 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.

Orphan drug directory

The directory includes drugs (and substances) for the treatment of rare diseases at all stages of development. This includes all substances which have been granted an orphan designation for disease(s) considered rare in Europe or the USA. 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.

Research and clinical trial directory

Research projects

Information is available on ongoing and unpublished research projects explicitly focused on a rare disease – either funded by regular national research funding or by a funding body with a scientific committee performing a competitive selection of research projects. Single-centre and national or international multicentric research projects are registered.

Clinical trials

The

s listed on Orphanet comprise interventional studies aiming to evaluate a drug (substance, or combination) to treat (or prevent) a specific rare disease. The trials can be national or international and, regarding the phase they are in, either recruiting, ongoing or finished. Since beginning collaboration in 2018, the World Health Organization's

International Clinical Trials Registry Platform The International Clinical Trials Registry Platform (ICTRP) is a platform for the registration of clinical trials operated by the World Health Organization. The ICTRP combines data from multiple cooperating clinical trials registries to generate ...

(ICTRP) and Orphanet intend to make clinical trials on rare diseases easily identifiable and findable, thus improving knowledge on rare diseases.

Patient organisations

Information on patient organisations, umbrella organisations and alliances dedicated to one particular rare disease or to a group of rare diseases are provided in this section. They can either be sorted geographically, or by specificity. Patient organisations should be active, responsive, provide support and information to patients, hold legal status according to the country's laws and have a designated head and/or contact person; however, Orphanet does not assume any responsibility if these requirements are not fulfilled.

Activity Report and other publications

On the Orphanet website

Orphanet reports comprise a series of texts covering topics relevant to all rare diseases. New reports are regularly put online and some of these texts are periodically updated. The annual Activity Report is available as a PDF file of roughly 80 pages.

''Orphanet Journal of Rare Diseases''

The '' Orphanet Journal of Rare Diseases'' is published in cooperation with

Springer Nature Springer Nature or the Springer Nature Group is a German-British academic publishing company created by the May 2015 merger of Springer Science+Business Media and Holtzbrinck Publishing Group's Nature Publishing Group, Palgrave Macmillan, and Macm ...

. Numerous reports and features are available online. The offer is free of charge.

References

External links

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Orphanet Journal of Rare Diseases

International Clinical Trials Registry Platform
{{Authority control Medical databases Medical websites Rare disease organizations Inserm