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Orphanet is a knowledge base dedicated to rare diseases as well as corresponding diagnosis, orphan drugs, clinical trials and expert networks [1]


The website is managed by a network of academic establishments from 40 countries, led by Inserm. [2] It contains content both for physicians and for patients. Its administrative office is in Paris and its official medical journal is the Orphanet Journal of Rare Diseases published on their behalf by BioMed Central. As of October 2020, the site provides information about over 6100 rare diseases and 5400 genes. [2]

Functions available

Orphanet is an online database with the aspiration 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 makes a contribution in 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. [1] There is no advertising on the page and there should be no problem to access it from older devices, since there are no animated pop-ups that might slow down the page-view.

Searching for Rare Diseases

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 for instance to receive information about the prevalence and a definition. You can also look for a specific disease by entering the ICD-code, the OMIM-code code or the name of the gene associated with the disease. [3]

Search for Diagnostics and Testing Facilities

Information on diagnostic tests conducted in order to establish a diagnosis of a rare disease and laboratories which have 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. [4]

Search for Professionals and Institutions


Professionals working in the field of rare diseases can be found in this section, if they agreed to be listed. It is possible to find consultants and physicians in charge of an expert centre, biologists in laboratories, researchers, representatives of patient organisations, coordinators of networks, principal investigators of clinical trials, managers or contact person of registries and biobanks. [5]


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 this institution who and have agreed to be listed. [6]

Directory of Expert Centres

By entering the respective rare disease you 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 that are 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/ group of diseases. The results can be sorted either geographically or by specificity and is also possible to specify whether you look for medical management, genetic counselling or both and to state if you need to consult an adult clinic or a child clinic. [7]

By entering the requested disease name you can search the inventory including drugs (and substances) for the treatment of rare diseases at all stages of development. This includes all the substances which have been granted an orphan designation for disease(s) considered as 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. [8]

Research and Clinical Trials

Research Projects

Information on ongoing and unpublished research projects explicitly focused on a rare disease – either funded from the 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. [9]

Clinical Trials

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. The trials can be national or international and, regarding the phase they are in either recruiting, ongoing or finished. The collaboration between the World Health Organization's International Clinical Trials Registry Platform (ICTRP) and Orphanet intends to make clinical trials on rare diseases easily identifiable and findable, thus improving knowledge on rare diseases. [10] [11]

Contact to 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. Despite the fact that patient organisations should be active, responsive, provide support and information to patients, have a legal status according to the country’s laws and have a designated head and /or a contact person, Orphanet does not assume any responsibility in case they do not fulfill these requirements. [12]

Activity Report and other Publications

On the Orphanet Website

The Orphanet reports comprises a serie of texts covering topics relevant to all rare diseases. New reports are regularly put online and some of these texts are periodically updated. There is the possibility to download the annual Activity Report as a pdf-file of roughly 80 pages. [13]

Orphanet Journal of Rare Diseases

The Orphanet Journal of Rare Diseases is published in cooperation with Springer Nature. Numerous reports and features are available online. The offer is free of charge. [14]

See also

Related Research Articles

A rare disease is any disease that affects a small percentage of the population. In some parts of the world, an orphan disease is a rare disease whose rarity means there is a lack of a market large enough to gain support and resources for discovering treatments for it, except by the government granting economically advantageous conditions to creating and selling such treatments. Orphan drugs are ones so created or sold.

An orphan drug is a pharmaceutical agent developed to treat medical conditions which, because they are so rare, would not be profitable to produce without government assistance. The conditions are referred to as orphan diseases.

Dyslipidemia is an abnormal amount of lipids in the blood. Dyslipidemia is a risk factor for the development of atherosclerotic cardiovascular disease (ASCVD). ASCVD includes coronary artery disease, cerebrovascular disease, and peripheral artery disease. Although dyslipidemia is a risk factor for ASCVD, abnormal levels don't mean that lipid lowering agents need to be started. Other factors, such as comorbid conditions and lifestyle in addition to dyslipidemia, is considered in a cardiovascular risk assessment. In developed countries, most dyslipidemias are hyperlipidemias; that is, an elevation of lipids in the blood. This is often due to diet and lifestyle. Prolonged elevation of insulin resistance can also lead to dyslipidemia. Likewise, increased levels of O-GlcNAc transferase (OGT) may cause dyslipidemia.

Roswell Park Comprehensive Cancer Center Hospital in New York, United States

Roswell Park Comprehensive Cancer Center is a cancer research and treatment center located in Buffalo, New York. Founded by Roswell Park in 1898, the center was the first in the United States to specifically focus on cancer research. The center, which conducts clinical research on cancer as well as the development new drugs, provides advanced treatment for all forms of adult and pediatric cancer, and serves as a member of the National Comprehensive Cancer Network. Roswell Park Comprehensive Cancer Center is currently the only upstate New York facility to hold the National Cancer Institute designation of "comprehensive cancer center".

Spinocerebellar ataxia Medical condition

Spinocerebellar ataxia (SCA) is a progressive, degenerative, genetic disease with multiple types, each of which could be considered a neurological condition in its own right. An estimated 150,000 people in the United States have a diagnosis of spinocerebellar ataxia at any given time. SCA is hereditary, progressive, degenerative, and often fatal. There is no known effective treatment or cure. SCA can affect anyone of any age. The disease is caused by either a recessive or dominant gene. In many cases people are not aware that they carry a relevant gene until they have children who begin to show signs of having the disorder.

Casa Sollievo della Sofferenza Research hospital in Italy

Casa Sollievo della Sofferenza is a private scientific research hospital in San Giovanni Rotondo, Italy, founded by Saint Pio of Pietrelcina, and administered by Vatican City. Inaugurated on 5 May 1956, the hospital has adopted modern technologies and is often considered as one of the most efficient scientific research hospitals in Europe. The building is situated at the highest part of the town, on the top of the hill, giving the location an identity of a hospital-town. Casa Sollievo della Sofferenza has two major activity wings. One of which is an internationally regarded hospital for the relief of suffering and the other is a state-of-the-art scientific research centre which had received the status of a Scientific Hospitalization and Treatment Institute (IRCCS), an institute of national interest, by the decree of Italian Ministry of Health in 1991. The research centre is also home to the Genomic and Genetic Disorders Biobank which is part of the Telethon Network of Genetic Biobanks and conducts basic and pre-clinical research and clinical trials in collaboration with pharmaceutical companies. It is first in the world to run non-profit clinical trials. The hospital has established Institute for Stem-cell Biology, Regenerative Medicine and Innovative Therapies (ISBReMIT) that will be the first factory of GMP neural stem cells in Europe for producing bio-drugs and cell-drugs. ISBReMIT has a dedicated area for the start-ups and spin-offs in biotechnology. Casa Sollievo della Sofferenza also houses a large out-patient clinic, a hospital-school for the children suffering from cancer and other genetic disorders, a reception centre which is a hotel complex, and a social-assistance residence for elderly. Casa Sollievo della Sofferenza also owns two agricultural companies-Masseria Calderoso and Posta La Via. It also hosts one spiritual centre, prayer group and a church. In front of Casa Sollievo della Sofferenza there is Sanctuary of Saint Pio of Pietrelcina, named after the founder of this hospital and research centre.

Pegylated interferon alfa-2b is a drug used to treat melanoma, as an adjuvant therapy to surgery. Also used to treat hepatitis C, it is no longer recommended due to poor efficacy and adverse side-effects. Subcutaneous injection is the preferred delivery method.

ClinicalTrials.gov is a registry of clinical trials. It is run by the United States National Library of Medicine (NLM) at the National Institutes of Health, and is the largest clinical trials database, holding registrations from over 329,000 trials from 209 countries.

Haemochromatosis type 3 is a type of iron overload disorder associated with deficiencies in transferrin receptor 2. It exhibits an autosomal recessive inheritance pattern. The first confirmed case was diagnosed in 1865 by French doctor Trousseau. Later in 1889, the German doctor von Recklinghausen indicated that the liver contains iron, and due to bleeding being considered to be the cause, he called the pigment "Haemochromatosis." In 1935, English doctor Sheldon's groundbreaking book titled, Haemochromatosis, reviewed 311 patient case reports and presented the idea that haemochromatosis was a congenital metabolic disorder. Hereditary haemochromatosis is a congenital disorder which affects the regulation of iron metabolism thus causing increased gut absorption of iron and a gradual build-up of pathologic iron deposits in the liver and other internal organs, joint capsules and the skin. The iron overload could potentially cause serious disease from the age of 40–50 years. In the final stages of the disease, the major symptoms include liver cirrhosis, diabetes and bronze-colored skin. There are four types of hereditary hemochromatosis which are classified depending on the age of onset and other factors such as genetic cause and mode of inheritance.

TREAT-NMD is a global academic network that focuses on advancing research in neuromuscular disorders. It was established in 2007 with its coordination centre at the Newcastle University. As of 2018, the network comprises over a hundred research centres and patient organisations from 54 countries as well as independent academics and patient representatives. The network's aim is to provide infrastructure to accelerating research through supporting collaboration between its members. Its main goals include improving trial-readiness worldwide, advancing patient diagnosis and care and accelerating pre-clinical research.

Congenital dyserythropoietic anemia Red blood cell disorder

Congenital dyserythropoietic anemia (CDA) is a rare blood disorder, similar to the thalassemias. CDA is one of many types of anemia, characterized by ineffective erythropoiesis, and resulting from a decrease in the number of red blood cells (RBCs) in the body and a less than normal quantity of hemoglobin in the blood. CDA may be transmitted by both parents autosomal recessively or dominantly.

The National Institute for Health and Care Research (NIHR) is a United Kingdom government agency which funds research into health and social care in England. With a budget of over £1.2 billion in 2019–20, its mission is to "improve the health and wealth of the nation through research". The NIHR was established in 2006 under the government's Best Research for Best Health strategy, and is funded by the Department of Health and Social Care. As a research funder and research partner of the NHS, public health and social care, the NIHR complements the work of the Medical Research Council. NIHR focuses on the all aspects of the research process, from translating laboratory findings to clinical research to applying the discoveries in health and social care.

Sharon F. Terry American health advocate

Sharon F. Terry is a health advocate in Washington, D.C. She co-founded PXE International when her children were diagnosed with pseudoxanthoma elasticum (PXE) in 1994. Her TEDMED talk has been viewed more than a million times in 2017, and was the subject of the TED Radio Hour. In 2009, she was elected an Ashoka Fellow for her entrepreneurial work in engagement and the development of interventions for genetic conditions.

National Center for Advancing Translational Sciences An NIH agency of the US Department of Health and Human Services

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The Orphanet Journal of Rare Diseases is a peer-reviewed open access medical journal covering research on rare diseases. It was established in 2006 and the editor-in-chief is Francesc Palau. It is an official journal of Orphanet and is published by BioMed Central, which is part of Springer Nature.

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A Center of expertise for rare diseases is a physical expert structure for the management and care of rare disease patients. In the UK the more commonly used term is "centre of excellence".

Regenerative Medicine Advanced Therapy (RMAT) is a designation given by the Food and Drug Administration to drug candidates intended to treat serious or life-threatening conditions under the 21st Century Cures Act. A RMAT designation allows for accelerated approval based surrogate or intermediate endpoints.


  1. 1 2 "The portal for rare diseases and orphan drugs". Orphanet. Retrieved 15 April 2021.{{cite web}}: CS1 maint: url-status (link)
  2. 1 2 "Orphanet: About Orphanet". www.orpha.net. Retrieved 2020-10-16.
  3. "Search for a rare disease". Orphanet. Retrieved 15 April 2021.{{cite web}}: CS1 maint: url-status (link)
  4. "Search for a diagnostic test". Orphanet. Retrieved 15 April 2021.{{cite web}}: CS1 maint: url-status (link)
  5. "Search for a Professional". Orphanet. Retrieved 15 April 2021.{{cite web}}: CS1 maint: url-status (link)
  6. "Search for an institution". Orphanet. Retrieved 15 April 2021.{{cite web}}: CS1 maint: url-status (link)
  7. "Search for an expert centre". Orphanet. Retrieved 15 April 2021.{{cite web}}: CS1 maint: url-status (link)
  8. "Search for an orphan drug". Orphanet. Retrieved 15 April 2021.{{cite web}}: CS1 maint: url-status (link)
  9. "Search for a research project". Orphanet. Retrieved 15 April 2021.{{cite web}}: CS1 maint: url-status (link)
  10. "International Clinical Trials Registry Platform (ICTRP)". World Health Organization . Retrieved 15 April 2021.{{cite web}}: CS1 maint: url-status (link)
  11. "Search for a clinical trial". Orphanet. Retrieved 15 April 2021.{{cite web}}: CS1 maint: url-status (link)
  12. "Search for a patient organisation". Orphanet. Retrieved 15 April 2021.{{cite web}}: CS1 maint: url-status (link)
  13. "Orphanet Reports Series / Procedures". Orphanet. Retrieved 15 April 2021.{{cite web}}: CS1 maint: url-status (link)
  14. "The official journal of Orphanet, the portal for rare diseases and orphan drugs". Springer Nature . Retrieved 15 April 2021.{{cite web}}: CS1 maint: url-status (link)