::Orphanet Help
Rare diseases
Search
Enter your requested disease name, gene symbol, or number of the classification system you have selected in the query zone and click OK to validate.
You may use truncated names. A list of all diseases or genes matching your query will appear. Select the one of interest to you.
Each disease is described by a name, synonyms and relevant keywords. Each gene is described by its name in English and its symbol(s). Diseases and genes are cross referenced.Each disease is also defined by its MIM number(s), its ICD code(s) and its Orpha number :
- MIM is the database of mendelian phenotypes and genes created by Dr. McKusick
- ICD-10 is the 10th International Classification of Diseases established by World Health Organisation
- The Orpha number refers to the Orphanet classification of diseases
Encyclopaedia for patients
The Patient Encyclopaedia is comprised of a set of information sheets produced by Orphanet and peer-reviewed by disease experts and dedicated patient organisations.
They are not yet available in all of the six Orphanet languages or for all rare diseases.
To view a specific disease profile, click on the first letter of the disease name.
Downloading of the Patient Encyclopaedia texts requires the installation of Acrobat Reader.
Encyclopaedia for professionals
The Professional Encyclopaedia is comprised of a set of articles which are expert-authored and peer-reviewed.
There are four categories of articles:- Review articles are comprehensive articles summarising the current medical knowledge on a disease.
- Practical Genetics articles are review articles focusing on genetic knowledge and the patient workup.
- The Emergency Guidelines are summary recommendations for the management of patients in emergency situations.
- Good Practice guidelines are summary recommendations for the management of patients, issued by official organisations.
They are not yet available in all of the six Orphanet languages or for all rare diseases.
To view a specific article, access the alphabetical disease list
Emergency guidelines
The emergency guidelines are articles which are expert-authored and peer-reviewed. They are intended to guide health care professionals in emergency situations.
They are not yet available in the six languages of Orphanet or for all rare diseases.
To view a specific article, access the alphabetical disease list or search by the full disease name.
- For the first option, click on the first letter of the disease name.
- For the second option, put your requested disease name in the query zone and click OK to validate.
You may use truncated names. A list of all diseases matching your query will appear. Select the disease of interest to you.
Search by sign
This service enables you to retrieve information about diseases by searching clinical signs using a controlled vocabulary (Thesaurus) organised by main organs and systems.
Step 1: Select a query rule
- Optional means that a disease is considered even if the sign is not listed in the disease profile. This is the default option.
- Mandatory means that only diseases with this sign listed in the disease profile are considered.
Due to the large variability of most diseases expression, it is recommended that ‘optional’ be selected when there is no satisfactory search result with ‘mandatory’.
Step 2: Select signs
To start the search, enter at least one clinical sign.
You can enter clinical signs:- By entering a search term and clicking on the 'Search' button. The search will return a list of matching terms from which you may make a selection.
- By using the thesaurus that groups first-level clinical signs from which you may select a subgroup of second-level clinical signs.
The selected sign will then be entered into your list of search criteria. Up to five signs may be selected. The ‘search’ button will automatically be replaced by a ‘delete’ button which can be used to delete a sign if necessary. The options in step 2 will then appear on the screen.
Step 3: Search matching diseases
Once you have selected your search criteria (1 to 5) in the table, click on ‘Search’ in the Step 3 zone. A list of diseases corresponding to your search criteria will be displayed.
When criteria are optional, the diseases in the list are classified by decreasing order of number of matching signs.
To access information on a disease, click on it.Not all rare diseases are currently indexed with their clinical signs as the indexing process is ongoing. This service is currently available for over 2,000 rare diseases only. As Orphanet does not include information on common diseases, this service cannot be used as a support to differential diagnosis with common diseases which should always be considered first. Establishing a diagnosis remains the full responsibility of the clinician using the Orphanet information service.
Orphan drugs
Search
Orphan drugs may be searched by product name or by name of the disease for which they are designated. Click in the appropriate box to select your option.
Product names include the trade name, compound name in English, chemical name in English, INN or code name.
Each disease is described by a name, synonyms and keywords which can be used to query the database.
You may use truncated names.
A list of all diseases or of all medicinal products matching your query will appear. Select the one of interest to you by clicking on it.
The list of Orphan Drugs in the Orphanet database includes all the medicinal products which have received an orphan designation, independently from the fact that they were further developed to become market approved drugs.
The Orphanet database also includes drugs without an orphan designation as long as they have a marketing authorisation and a specific indication for a rare disease. The lists are established using the information available at the relevant governmental agencies, and information provided by sponsors of medicinal products with an orphan designation when the product is not yet marketed.Orphanet acknowledges the contribution of the European Medicines Agency (EMEA) in the creation of the database on orphan medicinal products in Europe. This project was initiated by the Committee for Orphan Medicinal Products - Working Group with Interested Parties (COMP-WGIP) at the EMEA. Several members of the COMP-WGIP have individually contributed to the development of the database, which was welcomed by the COMP-WGIP as a significant tool for all interested parties.
The database has been developed entirely and autonomously by ORPHANET - INSERM SC11 France, using public and private funding and on publicly available data; as such, the EMEA or the COMP-WGIP are not responsible for the content and management of the database.
Participate in clinical research
During the past years, a service was available to offer persons suffering from rare diseases the opportunity to volunteer for active participation in the development of clinical research. Registered patients were informed of ongoing and new clinical studies of interest to them. This service had to be suspended for a few months when Orphanet launched its new version of its website in March 2008, as it was not compatible anymore with the new database structure. The Orphanet team is currently working to fix the problem. Patients already registered have been informed of the interruption of the service offered to them.
Register your activity
Clinics
Search
This screen gives access to lists of expert clinics through a query by disease name or by country: you must specify either the disease or the country. You may specify the type of clinics (clinical management or genetic counselling; adults or children; or whether you only want centres of reference) by clicking on the corresponding buttons; this is optional.
Enter your requested disease name in the query zone and click OK to validate.
You may use truncated names.
A list of all diseases matching your query will appear. Select the disease of interest to you.
The clinics listed in Orphanet are those considered to offer a specific expertise on a rare disease or a group of rare diseases. They match the following criteria: adapted technical platform, multidisciplinary team when necessary and clinical research expertise. Only those located in Europe and surrounding countries are listed. The level of expertise of the clinics varies from one country to another, depending on the health care system and on the size of the country.
Two types of clinics are listed: the medical management clinics and the genetic counselling clinics, as many rare diseases are genetically determined. It is specified whether they are adapted for children only or for adults only.
When a clinic is officially considered in its country as a centre of reference, it is indicated; however, official centres of reference exist in only a very few European countries.Clinicians must apply to have their clinic listed. They must provide evidence of their particular expertise to be considered. The applications are reviewed by the members of the Orphanet scientific advisory board of the country in charge of the relevant medical specialty. The data are updated every year.
It is recommended not to ask for very large lists as the number of possible results is voluntarily limited to protect the database from abuses.
In case you wish to obtain large datasets, please ask Orphanet to do the data extraction for you.Data collection takes place in European and surrounding countries and is currently ongoing. The database cannot yet be regarded as comprehensive. If an expert clinic is not listed in a region or a country, it may not have been identified or the clinics may have refused to be listed. It is also possible that an expert clinic has not yet been set up for some rare diseases.
By no means are these clinics the only places where patients can be adequately diagnosed and treated. There are other places for expert advice when needed.
Register your activity
Diagnostic tests
Search
- Simple search: This screen gives access to lists of expert laboratories through a query by disease name or by gene symbol. You may specify the country and the type of quality management (accreditation, certification, EQA) required for the laboratory, but this is optional. Enter your request in the query zone, select additional desired criteria, then click OK to validate.
You may use truncated names. A list of all names matching your query will appear. Select the one of interest to you. - Search by region: This screen gives access to lists of testing laboratories through a query by disease name or by gene name restricted to a geographical area. You must select a country and a region (among the lists provided). The country must be selected first.
- Search by city: This screen provides access to lists of expert laboratories through a query by disease name or by gene name restricted to a specific city.
- Search a laboratory: This screen provides access to lists of expert laboratories through a query by laboratory or institution name or EUGT number, optionally restricted to a geographical area. To define the area you must select a country (among the list provided) and a city by entering its name. The country has to be selected first. You may also define the services that the laboratory should provide by clicking the appropriate boxes.
You may also query a laboratory speciality (instead of a laboratory name). The EUGT number is a unique identifier attributed by Orphanet to all registered laboratories which is used by EuroGentest for managing the quality data. - Search a professional: This screen provides access to lists of experts working in laboratories registered with Orphanet for their activity in the field of rare disease and / or genetic testing. The query can be restricted to a country.
Clinical laboratories listed in Orphanet are those offering a test for the diagnosis of a rare disease or of a group of rare diseases and those performing genetic testing whatever the prevalence of the disease. The lists are established in collaboration with EuroGentest which is also in charge of the validation of the data on accreditation and on EQA (External Quality Assessment) of the laboratories. Data on certification are based on self-reporting of the laboratories.
The information which is displayed is provided by the scientists in charge of the activities. They must apply to have their laboratory activity listed. The applications are reviewed by the member of the Orphanet scientific advisory board of the country in charge of the relevant specialty.
Accreditation is a “procedure by which an authoritative body gives formal recognition that a body or person is competent to carry out specific tasks” (ISO 9000, 2000 Quality management systems – fundamentals and vocabulary).
Accreditation standards related to clinical laboratories (for example, ISO15189) place emphasis on having an effective quality assurance system in place, on a commitment to meeting needs of patients and their doctors as users of laboratory services and a need for continuous cycle of quality improvement at the centre of all policy making a operational decisions. Data on accreditation have been validated by EuroGentest before their release on Orphanet.
Certification is a procedure by which a third party gives written assurance that a product, process or service conforms to specific requirements. (ISO 9000, 2000 Quality management systems – fundamentals and vocabulary).
EQA (External Quality Assessment, also known as proficiency testing) is “a system whereby a set of reagents and techniques are assessed by an external source and the results of the testing laboratory are compared with those of an approved reference laboratory” (WHO). It allows a laboratory to compare its performance for an individual test or technique against that of other laboratories. Data on EQA participation have been validated by EuroGenTest before their release on Orphanet.Licencing is a legal permit or formal permission from a constituted authority or governmental agency to operate a laboratory. It may involve documenting the existence, institutional accountability and the activities of the facility, for example, the type of service provided. In return the laboratory is officially registered and may be publicly listed.
It is recommended not to ask for very large lists as the number of possible results is voluntarily limited to protect the database from abuses.
In case you wish to obtain large datasets, please ask Orphanet to do the data extraction for you.Data collection takes place in European and surrounding countries and is currently ongoing. The database cannot yet be regarded as comprehensive. If an expert clinical laboratory is not listed in a region or a country, it may not have been identified or the laboratory may have refused to be listed. It is also possible that diagnostic testing facilities do not yet exist for all rare diseases or in every region.
- Simple search: This screen gives access to lists of expert laboratories through a query by disease name or by gene symbol. You may specify the country and the type of quality management (accreditation, certification, EQA) required for the laboratory, but this is optional. Enter your request in the query zone, select additional desired criteria, then click OK to validate.
EuroGentest
What is EuroGentest ?
EuroGentest is a network of excellence, funded by the European Commission since 1 January 2005. It aims to harmonize and improve the overall quality of genetic services in Europe. Orphanet is a partner of the network, in charge of disseminating the information on testing activities in European Laboratories and on quality management of the laboratories providing these services. Orphanet is in charge of the data collection and EuroGentest validates the data on accreditation and on EQA (External Quality Assessment) of the laboratories. Data on certification are based on self-reporting of the laboratories.
Register your activity
Research and trials
Search
This screen gives access to lists of research projects and clinical trials through a query by disease name or gene name. You may specify the country by selecting it among the list provided (optional).
Enter your requested disease name or gene name in the query zone and click OK to validate.You may use truncated names. A list of all diseases or of all genes matching your query will appear. Select the one of interest to you.
- Search by research category: This screen provides access to lists of research projects through a query by disease name or gene name, restricted to a category of research activity. You may specify the country by selecting it among the list provided (optional).
Enter your requested disease name or gene name in the query zone and / or select a type of research project among the proposed list and click OK to validate.
Research projects registered with Orphanet are those which are supported by a grant from official research institutions at the national or European level, or by NGOs after a peer-review process. The information which is displayed is provided by the researchers. They must apply to have their research activity listed. The applications are reviewed by the members of the Orphanet scientific advisory board of the country in charge of the relevant specialty.
The clinical trials which are registered with Orphanet are those taking place in Europe and surrounding countries. The information which is displayed is provided by the sponsor and by the principal investigator, except in France where data is provided by AFSSAPS.
The data is updated annually.The data collection takes place in European and surrounding countries and is currently ongoing. The database cannot yet be regarded as comprehensive. If there is no research project or clinical trial listed for a disease or a group of diseases, it may be that no research activity is ongoing, but it is also possible that the researcher has refused to be listed.
Participate in clinical research
During the past years, a service was available to offer persons suffering from rare diseases the opportunity to volunteer for active participation in the development of clinical research. Registered patients were informed of ongoing and new clinical studies of interest to them. This service had to be suspended for a few months when Orphanet launched its new version of its website in March 2008, as it was not compatible anymore with the new database structure. The Orphanet team is currently working to fix the problem. Patients already registered have been informed of the interruption of the service offered to them.
Innovating projects
OrphanXchange
OrphanXchange ( www.orphanxchange.org) is a website, created in response to the needs expressed by Alliance Maladies Rares patient organizations, which provides access to a database of molecules and technologies of interest and potential partners in the pursuit of bringing together academic research projects and the private sector with the ultimate goal of developing diagnostic solutions and orphan drugs (official name of rare disease therapies). These diagnostic and orphan drug development initiatives may be the result of academic research or even concern market authorized molecules previously having another indication with potential to treat rare diseases. A preliminary analysis was conducted by patient organisations and physicians by identifying drugs prescribed “off-label” by healthcare professionals to address the real needs of rare disease patients. As a result of this work, the OrphanXchange database currently contains research projects involving potential orphan drugs affecting more than 35 rare diseases. The OrphanXchange webiste is freely accessible to all stakeholders, however registration is required for more detailed information. OrphanXchange operates in collaboration with Orphanet (www. orpha.net) the European database of rare diseases. OrphanXchange is financially supported by the European Commission, INSERM (Institute National de la Sante et Recherche Medicale) and LEEM (Les Entreprises du Medicament).
Registries / databases
This screen gives access to lists of registries through a query by disease name.
The registries which are registered with Orphanet are those which systematically collect data on a disease or a group of diseases. The information which is displayed is provided by the researchers.
Registries must apply to be listed. The applications are reviewed by the member of the Orphanet scientific advisory board of the country in charge of the relevant specialty.
All types of data collection are considered: registries, databases, observatory of cases, as long as they can serve as a source of data for clinical research.
Data collection takes place in European and surrounding countries and is currently ongoing. The database cannot yet be regarded as comprehensive. If there is no registry listed for a disease or a group of diseases, it may be that no registry is available, but it is also possible that the researcher has refused to be listed.
Register your activity
Patient organisations
Search
This screen gives access to list of support groups through a query by disease name. You may specify the country by selecting it among a list, but this is optional.
Put your requested disease name in the query zone and click on OK to validate.
You can use truncated names. A list of all diseases matching your query will appear. Select the disease of interest to you.- Search by patient organisation name: This screen gives access to list of support groups matching a name. Put the name of the organisation you are looking for in the query zone and click on OK to validate. You may specify the country by selecting it among a list, but this is optional.
- Search by country: This screen gives access to lists of support groups by country. They are classified by alphabetical order of their name. Click on a country. If you want to have details on an organisation, click on its name.
In some countries the list may be very long. It will take some time before it appears if you have a slow connection. To search for a specific organisation, it is easier to query by patient organisation name.
The patient organisations listed in Orphanet are the patient organisations registered in Europe and surrounding countries whose activity is targeted at a rare disease or a group of rare diseases. The information which is displayed is the information provided by the head of the organisation.
It is recommended not to ask for very large lists as the number of possible results is voluntarily limited to protect the database from abuses.
In case you wish to obtain large datasets, please ask Orphanet to do the data extraction for you.Data collection takes place in European and surrounding countries and is currently ongoing, thus the database cannot be regarded as comprehensive yet. If no patient organisation is listed for a disease or in a country, it may be that no patient organisation is available, but it is also possible that the patient organisation has refused to be listed.
Services for organisations
This service is currently only available in French
Contact other patients
This service is currently only available in French
Register your activity
Directory of resources
Search for a person
- Search by name of the professional: Enter the name of the professional in the query zone and click OK to validate. You may use truncated names. A list of all names matching your query will appear. Select the one of interest to you.
- Search by institution: Enter the name of the institution or the name of the department/service in the appropriate query zone and click OK to validate. You may use truncated names. A list of all names matching your query will appear. Select the one of interest to you.
You can also restrict your query to a specific area by selecting a country among the provided list and by entering the name of a city (optional). The country must be selected first as the list of cities depends on the country.
The professionals listed are those who have registered their activity in the field of rare diseases with Orphanet. This includes, for example, physicians in charge of an expert clinic, biologists acting in a clinical laboratory, researchers and representatives of patient organisations, experts writing or peer-reviewing data for Orphanet or assisting Orphanet in its governance.
The information which is displayed is provided by the professional. This includes contact details and information on the professional’s activity in relation to rare diseases or with Orphanet.
Data collection takes place in European and surrounding countries and is currently ongoing. The database cannot be regarded as comprehensive yet. If an expert is not listed, he/she may not yet have been identified or he/she may have refused to be listed.
Search for an institution
Enter the name of the institution or department you are looking for in the query zone and click OK to validate. You may use truncated names. A list of all names matching your query will appear. Select the one of interest to you.
You can restrict your query to a specific area by selecting a country among the provided list and by entering the name of a city (optional). The country must be selected first as the list of cities depends on the country.
The institutions listed are those which have registered their activity in the field of rare diseases with Orphanet. This includes, for example, institutions hosting expert clinics, clinical laboratories, research laboratories and patient organisations.
The information displayed is provided by the professionals working in this institution who are registered with Orphanet.Data collection takes place in European and surrounding countries and is currently ongoing, thus the database cannot be regarded as comprehensive yet. If an institution is not listed, it may not have yet been identified or may have refused to be listed.
Register your activity
Register/Read the newsletter
Welcome to OrphaNews Europe!
OrphaNews Europe is the bi-monthly electronic newsletter of the EC's Rare Diseases Task Force.
Every month it presents news and views on rare diseases and orphan drugs in Europe: research, EU, national and international policy, disease surveillance, orphan drug approvals, funding opportunities, news from the patients associations, events...
The newsletter, produced in English, aims to reach all sectors of the rare disease and orphan drugs community across Europe, ensuring that all those concerned are informed of important developments and new initiatives in the field.
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Orphanews Europe
Bienvenue sur Orphanews France
Orphanews est une lettre d'information en français sur les maladies rares et les médicaments orphelins.
Publiée tous les quinze jours et accessible sur l'interface française d'Orphanet et par abonnement, elle s'adresse à toutes les personnes concernées de près ou de loin par les maladies rares.
Orphanews présente un aperçu des actualités récentes sur ces pathologies : découverte de gènes, explication de mécanismes pathologiques, recherches cliniques, prise en charge thérapeutique, politique de recherche et de santé, vie des associations, colloques...
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Orphanews France
Get in touch
- For information on a rare disease
- For a research collaboration or a study
- For a personal query
- To register an activity
- For other purposes
- To locate our office in Paris
- Contact us by phone
For information on a rare disease
Write the name of the disease (or only part of the name) in the box provided on the front page, then click on 'search'. You can also do a search by clicking on 'Services to', located in the menu on the left of the home page. Then click on 'Search by disease' and write the name of the disease.
We do not answer questions relating to information on diseases, as all available information at our disposal is freely accessible on the web site.
If you cannot find the information you are searching for, please consult the alphabetical list of diseases, or try another approximate spelling. If you are still unable to find the information you require, leave us a message in our message box:
For a research collaboration or a study
If you would like to obtain a substantial amount of information from the database for research work, a report or personal use, please submit your query (
) explaining the purpose for which you need this data extraction.For a personal query
Orphanet cannot answer personal queries. You should contact a dedicated service.
Web-based information services Country Patients Organisation Web Site Bulgaria ICRDOD (Information Center for Rare Diseases and Orphan Drugs)
www.raredis.org Canada CORD (Canadian Organization for Rare Disorders)
www.raredisorders.ca Denmark Center for Små Handicapgrupper
www.csh.dk Finland Harvinaiset Sairaus
www.harvinaiset.fi France Maladies Rares Info Services
www.maladiesraresinfo.org France Fédération des Maladies Orphelines (FMO)
www.maladies-orphelines.fr Germany ACHSE (Allianz Chronischer Seltener Erkrankungen)
www.achse-online.de Italy Istituto Superiore di Sanità: Centro Nazionale Malattie Rare www.iss.it/cnmr/ Norway Norwegian Directorate of Health
Rehabilitation and rare disorders departmenthttp://www.helsedirektoratet.no/sjelden http://www.rarelink.no Spain Instituto de Investigacion de Enfermedades Raras (for patients)
iier.isciii.es/er Sweden The Swedish Information Centre for Rare Diseases
www.socialstyrelsen.se/en/rarediseases UK Contact-a-family
www.cafamily.org.uk USA NORD (National Organization for Rare Disorders)
www.rarediseases.org Specialised Helplines Country Organisation Helplines Canada CORD (Canadian Organization for Rare Diseases) +1-877 302 7273 France Maladies Rares Info Services From France :
0 810 631 920 (n°azur)
From foreign
countries :
+33 156 538 136Norway Norwegian Directorate of Health
Rehabilitation and rare disorders departmentFree helpline:
+47 800 41710Spain FEDER 902 18 17 25 United Kingdom Contact-a-family 0 808 808 3555 United States of America NORD (National Organization of Rares Disorders) +1 (800) 999 6673
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Postal address :
INSERM SC11
102, rue Didot
75014 Paris, FranceTo visit us :
INSERM SC11
Hopital Broussais
96, rue Didot
Plateforme Maladies Rares
Secteur jaune
Batiment Gaudart d'Allaines porte 5 Rez-de-chaussée
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Agrandir le planContact us by phone :
+33 (0)1 56 53 81 37
We are a small team and we can therefore only reply to a limited number of messages per day. Please accept our apologies for any inconvenience.
Other information
About Orphanet
About Orphanet Mission Organisation Orphanet services Orphanet funding Orphanet partnerships Orphanet users
Mission
Orphanet is a database of information on rare diseases and orphan drugs for all publics. Its aim is to contribute to the improvement of the diagnosis, care and treatment of patients with rare diseases.
Orphanet includes a Professional Encyclopaedia, which is expert-authored and peer-reviewed, a Patient Encyclopaedia and a Directory of expert Services. This Directory includes information on relevant clinics, clinical laboratories, research activities and patient organisations.next page 
About rare diseases
What is a rare disease ?
The so-called 'rare diseases' are diseases that affect a small number of people compared to the general population. In Europe, a disease is considered as rare when it affects 1 person per 2,000. However, this status may vary with time and also depends upon the area considered. For years, AIDS was an extremely rare disease, later it was rare, and now it is a more and more frequent disease in certain populations. A genetic or viral disease can be rare in one region, while frequent in another region. Leprosy is a rare disease in France, but common in central Africa. Thalassemia, which is an anaemia of genetic origin, is rare in Northern Europe, whereas it is frequent in the Mediterranean region. 'Periodic disease' is rare in France, whereas it is common in Armenia. There are also many diseases whose variants are rare.
How many rare diseases are there ?
There are thousands of rare diseases. To date, six to seven thousand rare diseases have been found and approximately five new diseases are described every week in the medical literature. This number also depends upon the accuracy of the definition. Whether a single pattern is considered unique depends on the state of our knowledge, on the accuracy of clinical and investigative analysis and on the way we choose to classify diseases in general. Certain related diseases can be considered as a unique entity (they are lumped together) or subdivided and classified as separate disorders (they are split). This complexity is reflected in the various classifications of rare diseases which are provided by Orphanet.
What is the origin of rare diseases ?
While most genetic diseases are rare diseases, all rare diseases are not caused by genetic defects. There are very rare infectious diseases for instance, as well as auto-immune diseases and very rare poisonings. To date, the cause remains unknown for most rare diseases.
What are the characteristics of rare disease ?
Rare diseases are serious chronic diseases, and are often life-threatening. For many rare diseases, signs may be observed at birth or in childhood, as in proximal spinal muscular atrophy, neurofibromatosis, osteogenesis imperfecta, chondrodysplasia or Rett syndrome. However, more than 50% of rare diseases may only appear during adulthood, such as Huntington disease, Crohn disease, Charcot-Marie-Tooth disease, amyotrophic lateral sclerosis, Kaposi’s sarcoma or thyroid cancer. Scientific and medical knowledge on rare diseases is lacking and remains to be improved. Neglected for a long time by physicians, scientists and politicians, there were no adequate political and scientific research programmes in the field of rare diseases until a few years ago. There is no efficient treatment for most rare diseases, but suitable care can improve the quality of life and increase life expectancy. Spectacular progress has been achieved for some diseases indicating that it is not time to give up, but rather to pursue and to intensify research efforts and social solidarity.
What are the medical and social consequences for rare diseases ?
Patients face similar difficulties in their quest for a diagnosis, relevant information and proper direction towards qualified professionals. Many rare diseases are associated with sensory, motor or mental deficits and, sometimes, physical stigmata. People affected by rare diseases are often psychologically, socially, economically and culturally vulnerable. These difficulties may be overcome by proper regulation. Due to the lack of sufficient scientific and medical knowledge, many patients are not diagnosed. Their diseases remain unidentified. These people are the ones who suffer the most.
Will diagnosis and treatment of rare diseases improve ?
For all rare diseases, major hopes and significant changes should ensue from scientific progress, especially from the human genome programme. Hundreds of these diseases can now be targeted and diagnosed through biological sample analysis. Knowledge of the natural history of rare diseases is improved by the setting up of registers for some of them. Scientists are increasingly networking and sharing the results of their research to work more efficiently. New hopes arise from the implementation of orphan drug regulations. Support for this research effort varies considerably from one country to another, with few nations currently having political programmes targeted at rare diseases research.
How can I obtain information about a specific disease ?
Orphanet is a database of rare diseases which is freely accessible. It contains information about more than 5,000 diseases.
next page
About orphan drugs
What is an orphan drug ?
The so-called 'orphan drugs' are intended to treat diseases so rare that sponsors are reluctant to develop them under usual marketing conditions.
The process from the discovery of a new molecule to its marketing is long (10 years in average), expensive (several tens of millions of euros) and very uncertain (among ten molecules tested, only one may have a therapeutic effect). Developing a drug intended to treat a rare disease does not allow the recovery of the capital invested for its research.
Orphan drugs may be defined as :
Drugs that are not developed by the pharmaceutical industry for economic reasons but which respond to public health need.
Actually, the indications of a drug may also be considered as ' orphan ' since a substance may be used in the treatment of a frequent disease but may not have been developed for another, more rare indication.
In fact, three cases may arise :
- Products intended to treat rare diseases :
These products are developed to treat patients suffering from very serious diseases for which no treatment, or at least a satisfactory one, has so far been available. These diseases affect only a small proportion of the population (less than one person per 2,000 in Europe), most often at birth or in infancy. The number of rare diseases for which no treatment is currently available is estimated to be between 4,000 and 5,000 world-wide. Twenty-five to 30 million people are reported to be affected by these diseases in Europe. - Products withdrawn from the market for economic or therapeutic reasons :
For example, thalidomide widely much used as a hypnotic drug some years ago and was then withdrawn from the market when its high teratogenic (triggering fetal malformations) risk was discovered. However this drug showed very interesting analgesic proprieties in diseases such as leprosy or lupus erythematosus. They are diseases for which no satisfactory treatment has been available. - Products that have not been developed :
- either because they are derived from a research process that cannot be patented ;
- or because they concern important markets which are, however, not creditworthy (see the text Orphan drugs for Third-World countries).
Patients affected by rare diseases have to be informed about scientific and therapeutic progress. They have the same rights to care as any other patient. In order to stimulate research and development in the sector of orphan drugs, the authorities have implemented incentives for health and biotechnology industries. It started as early as 1983 in the United States with the adoption of the Orphan Drug Act, then in Japan and in Australia in 1993 and 1997. Europe followed in 1999 by implementing a common EU policy on orphan drugs.
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- Products intended to treat rare diseases :
Quality charters
Orphanet quality charters Orphanet quality charter Orphanet standard Operating Procedures
Orphanet quality charter
Orphanet is committed to maintain, update and develop an Internet information service dedicated to rare diseases and orphan drugs.
Orphanet is committed to maintain an access that is both free and free of charge.Data collection and dissemination of information abide by the legal provisions in force in the countries concerned: the professional code of ethics, any law on computing and liberties, on intellectual property rights, electronic data protection and any law or regulation applicable.
The French personal data protection committee (Commission Nationale de l'Informatique et des Libertés; CNIL) gave a favourable opinion for the creation of Orphanet on 5 May 1997. Whenever someone's name is mentioned, this person has given his/her authorisation to quote his/her name.The information disseminated and the services developed comply with the codes and recommendations issued by the ad hoc committees recognized at the national or international level, especially concerning respect of patients' rights, respect of the confidentiality of the information, the practice of on-line medicine, and the safety of networks.
Up to now, the codes and charters to which Orphanet has adhered are the following :- the HONcode 'HONConduct385483' (www.hon.ch/HONcode), the eHealth Code of Ethics (ihealthcoalition.org/ethics/ehcode.html)
- the 'Guidelines for Medical and Health Information Sites on the Internet' from the American Medical Association (www.ama-assn.org/ama/pub/category/1905.html)
- the recommendations from the French National Board of Physicians (the Conseil National de l'Ordre des Médecins). (www.conseil-national.medecin.fr)
The database is under the supervision of a scientific committee and an editorial board whose members are appointed for their expertise in the diseases considered and proposed by the learned societies, the health authorities of the countries involved or any relevant organisation.
All the information available to the public is validated by a member of the committee before it is put-on line.
All the information is updated as often as scientific advances require it or at least once a year for all the data, including the administrative data. The scientific committee has first approved the Standard Operating Procedures.next page
Orphanet Reports series
Orphanet Reports Series
Orphanet reports are 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.
Educational tools
This service is currently only available in French
Medias
Press release
Orphanet launches a new version of its website
Orphanet, the European information server on rare diseases and orphan drugs, is launching, a new version of its website to better serve its 20,000 daily users (www.orpha.net)
The Orphanet website and database is managed by the SC11 department of the INSERM (French national medical research agency) and in part funded by this national institute, as well as by the French Ministry of Health (DGS) and the European Commission (Public Health Directorate General and Research Directorate General).
The new version of the Orphanet website, the 4th one in its 11 years of existence, positions Orphanet as a real portal adapted to the diversity of its audience – one-third patients and their relatives and two-thirds health professionals, scientists, teachers and students. It provides access toan encyclopaedia of rare diseases and orphan drugs and to a directory of services in 35 countries, including information on expert clinics, clinical expert laboratories, research activities and patients’ organisations.
All the available Orphanet services are listed on the website’s homepage, accessible disponible in 5 languages : English, French, German, Italian and Spanish. A Portuguese version is expected. Navigation of the new site has been made easier to adequately guide first-time users who visit as they represent half of the website’s visitors.
Orphanet’s database of rare diseases has been enhanced with new information on the epidemiology of the diseases (prevalence in the European population, age at onset), on their mode of inheritance, and on related genes, when applicable. These services were designed to meet the professional needs of researchers and the private sector involved in the development of new therapies for rare diseases.
All entries in the disease database have been classified according to medical and scientific classifications, facilitating a query by general terms on the website. This service is unique in its kind and is expected to please all potential users.
The information on clinical laboratories has been complemented with data on the quality management of the laboratories, to promote an increased standard of quality across Europe. This information was collected and validated by the EuroGenTest consortium, a network of excellence funded by the European Commission (DG research) (www.eurogentest.org).
The information on orphan drugs has been enriched to provide information on the stage of development of a product from the time of its designation as orphan product by the EMEA until its market authorisation in Europe. Orphan drug designation is usually granted at the beginning of the clinical development phase. As such, the Orphanet website provides access to the list of on-going clinical trials and to all orphan indications of a designated molecule; a service strongly requested by patients.
Orphanet in numbers Content of the database Statistics 5,200 diseases 20,000 daily visitors 1,233 clinical laboratories offering testing for 1 504 diseases from 170 countries 2,003 research laboratories conducting conducting 4,198 projects on 2,040 diseases 35% are patients and families 742 clinical trials 50% are health professionals 283 registries 15% are teachers, students and media 3,092 expert clinics 1,739 patients’ organisations 10,302 professionals 521 drugs with an indication for a rare disease
Organisation Orphanet is run by a consortium of national teams based in Austria, Belgium, Bulgaria, Croatia, Cyprus, Czech Republic, Denmark, Estonia, Finland, France, Germany, Greece, Hungary, Ireland, Israel, Italy, Latvia, Lebanon, Lithuania, Luxembourg, Malta, Morocco, Netherlands, Norway, Poland, Portugal, Romania, Serbia, Slovakia, Slovenia, Spain, Sweden, Switzerland, Tunisia, Turkey and United-Kingdom. The consortium is coordinated by the French team
Funding Orphanet was established in 1997 by the French Ministry of Health (Direction Générale de la Santé) and the INSERM (Institut National de la Santé et de la Recherche Médicale). Both agencies are still funding the core project.
The European Commission is funding the encyclopaedia and the collection of data in European countries (since 2000 DG Public Health and Consumers Protection grants No S12.305098; S12.324970; SPC.2002269; 2003220; 2006119 and since 2004 DG Research grant No LSSM-CT-2004-503246; FP6-512148; LSHB-CT-2006-08933).
Other sponsors are also funding Orphanet services:
The French Muscular Dystrophy Association (Association Française contre les Myopathies; AFM) sponsors OrphaNews France.
The French pharmaceutical companies association (Les Entreprises du Médicament; LEEM) sponsors the development of the OrphanXchange database and the collection of orphan drugs data.
