About Rares Diseases

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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 or also depends upon the area considered. For years, AIDS was a extremely rare disease, then it was rare and it is now a more and more frequent disease in some populations. A genetic or viral disease can be rare in one region, while it is frequent in another region. Leprosy is a rare disease in France but it is 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 frequent diseases which 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 five new diseases are described every week in the medical literature. This number also depends upon the accuracy of the definition. In medicine, a disease has been defined as the deterioration of the health condition with a single configuration of symptoms and a single treatment so far. Whether this configuration is considered as unique depends upon the sharpness of our analysis. The sharper it is, the more differences we can see. All the current frequent diseases may be split into several tens or hundreds of rare diseases in a few years.

What is the origin of rare diseases ?


While most of the 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. The cause remains unknown to date for most diseases.

What are the characteristics of rare disease ?

Rare diseases are serious chronic diseases, and often life-threatening. Signs could be observed at birth or in childhood, as in proximal spinal muscular atrophy, neurofibromatosis, osteogenesis imperfecta, chondrodysplasia or Rett syndrome for instance. However, more than 50 % of rare diseases 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 must be improved. Set aside for a long time by physicians, scientists and politics, there was no adequate political and scientific research programmes in the field of rare diseases until a very few years ago. There is no accurate treatment for most of them but suitable care can improve the quality of life and increase life expectancy. Spectacular progresses have been accomplished for some diseases indicating that it is not time to give up, but on the contrary to pursue and to intensify research effort 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 orientation toward qualified professionals. Many rare diseases are closely associated with sensory, motor, mental deficits and, sometimes, physical stigmata. People affected by rare diseases are more vulnerable from a psychological, social, economical and cultural standpoint. Those difficulties could be overcome by a proper regulation. Due to the lack of sufficient scientific and medical knowledge, many patients are not diagnosed. Their disease remains unidentified. These people are the ones who suffer the most. Patients and relatives talk about “a boot camp” process to be heard, to collect information, to be sent to the appropriate medical teams, when available, in order to be adequately diagnosed. All of this result in a numerous waste of time, of consulting, of care and inappropriate medical drugs delivering and can even lead to potentially harmful medication. All patients and relatives live it as a difficult time, without information. This difficulty is shared by the health care providers, which are not organised, nor trained to the best practice of diagnosis announcement. Patients and relatives report, even after diagnosis, serious inappropriate health care occurrences. State-of-the-art in care and treatment guidelines are not made available. There are very few adequate clinical practice guidelines. Physicians’ experience and know-how remains isolated although it should be shared and networked. Medical specialties segmentation prevents global management of patients suffering from multiple organ affecting diseases. Discrepancies in health care access are linked to the ability of physicians to access an informative network on one hand, and on the other hand to the inequality of administrative processes. Family and care providers unanimously point out the heavy burden of “red-tape”. Blatant inequalities appear in financial support allocation, alternate income sources and health care reimbursement, with strong regional variations. Due to the rare occurrence of the diseases and of adequate health care locations, encountered expenses are usually higher than those paid for common diseases. Families pay for a significant portion of those expenses.

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 on natural history of rare diseases is improved by the set 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 the orphan drug regulation. Support to this research effort is changing from one country to another, few nations having, today, political programmes targeted to rare diseases research.

How to obtain information about a specific disease ?

Orphanet is database of rare diseases which is freely accessible. It contains information about more than 3,600 diseases.

The European policy in the field of rare diseases


The new European public health Programme (2003-2008)

On 23 September 2002, the European Parliament and the Council adopted a new Community action programme for public health . This programme runs for a 6-year period (from 1 January 2003 to 31 December 2008).
The new programme is based on three general objectives: health information , rapid reaction to health threats and health promotion through addressing health determinants . Activities such as networks, co-ordinated responses, sharing of experience, training and dissemination of information and knowledge will be inter-linked and mutually reinforcing. The aim is to embody an integrated approach towards protecting and improving health. As part of this integrated approach, particular attention is paid to the creation of links with other Community programmes and actions.

A request for proposal has been issued in March 2004. The on-going calls for proposals can be accessed at:

http://europa.eu.int/comm/health/ph_programme/howtoapply/call_for_propal_en.htm


Orphanet extension to 20 countries across Europe is funded through this programme.

The previous health public programme (1996-2002) funded eight action programmes including a rare disease programme (1999-2003) based on four actions:

Selected projects, ended today, are available on the website: http://europa.eu.int/comm/health/ph_projects/rarediseases_project_en.htm


This programme funded Orphanet extension to 7 countries across Europe (Austria, Belgium, Germany, Italy, Spain, Portugal, and Switzerland).

The Sixth Framework Programme (2002-2006)

The sixth programme 2002-2006 allowed funding for one of the seven thematics priority “Life sciences, genomics and biotechnology for health”. Its objective: ”To address in an integrated approach results of live organisms genome deciphering in a public health interest, in relevance of competitiveness of European pharmaceutical industry as well as of environment and agriculture”. This thematic is two-folded, one of the aspect being the fight against serious diseases:

This programme funds OrphanXchange. All information related to this programme are available on the website:
http://www.cordis.lu/lifescihealth/home.html

The previous Fifth Framework Programme was divided into two parts: one of them was a European programme for research and technological development. Among other, this latter was focused on funding clinical and fundamental research in the field of rare diseases: The rare disease part provided for the support of research on diagnosis and prevention tools, especially to establish epidemiological observatories, information networks and patient registries. The pharmaceutical research part was oriented to support industrials for therapeutical research and development in the field of rare diseases. Fourteen projects were funded for about 16.8 millions Euros. All information related to this programme are available on the website:
http://www.cordis.lu/life/home.html

The American policy in the field of rare diseases


The Office of Rare Diseases (ORD) was established in 1993 within the Office of the Director of the National Institutes of Health (NIH). On November 6, 2002, the President established the Office in statute (Public Law 107-280, the Rare Diseases Act of 2002 ).
The goals of ORD are to stimulate and coordinate research on rare diseases and to support research to respond to the needs of patients. To leverage its resources, stimulate rare diseases research activities, and foster collaboration, ORD works with NIH Institutes or Centres to support: