Rare disease

from Wikipedia, the free encyclopedia

A rare disease or rare disease (SE) is a disease that affects only a few people. In the narrow and technical language use, it is a group of rare diseases out of the authorities, doctors and patient organizations because of their seriousness or danger yet attention (also English disease orphan ; of English orphan , orphan ' ). The specific definition for this differs from country to country, e.g. For example, the US authorities use a prevalence of 1: 1500 or less, Japan 1: 2500, the European Union 1: 2000 (or if fewer than five in 10,000 people have it). In Germany there are said to be around 8,000 such diseases, which together affect 6–8% of the population.

criteria

Rare diseases are often life-threatening or chronically debilitating diseases that require special treatment. Depending on the country or confederation, different criteria apply for classification as a rare disease .

The relevant EU regulation defines rare ailments as "which are life-threatening or chronic disability" and which "affect no more than five out of ten thousand people" in the European Community. Many rare diseases are caused by a genetic defect.

region Prevalence , relative Affected absolutely Number of diseases
EU less than 5 per 10,000 inhabitants fewer than 228,000 patients
United States less than 7.5 per 10,000 inhabitants less than 200,000 patients 7000
Japan less than 4 per 10,000 inhabitants less than 50,000 patients
Australia less than around 1 per 10,000 inhabitants less than 2,000 patients

In 1997 the French Ministry of Health initiated the Orphanet ; the project includes a database of rare diseases and their treatment options.

The National Network for Rare Diseases announced in October 2006 that around 17,000 genetically determined rare diseases are currently known, 5,000 to 8,000 of them in Germany alone.

According to an estimate by the Global Genes Project , approximately 300 million people worldwide have one of approximately 7,000 diseases that are defined as rare in the United States. Rare diseases affect between 27 and 36 million people in the EU. In Germany it is assumed that 4 million people are affected.

drug

The status of medicines as an orphan drug is through the regular meetings of the London Committee on medicines for rare diseases (Committee for Orphan Medicinal Products, COMP ) of the European Medicines Agency discussed (EMA) and then recommended.

As a rule, it is for the pharmaceutical industry economically unattractive medicines for rare diseases, so-called orphan drugs (ger .: orphan medicinal product to be developed). For this reason, ordinances and laws have been passed by various states to promote the treatment of these diseases. Pharmaceutical companies that develop new drugs for the treatment of rare diseases receive easier approval and marketing. First, the USA passed the Orphan Drug Act . On January 22nd, 2000 the EU regulation on medicinal products for the treatment of orphan diseases came into force; other countries followed suit.

Public attention

The Rare Disease Day was in Europe and Canada for the first time committed on 29 February 2008 in order to raise public awareness of the needs of those affected attentive.

EU regulations

The EU regulation on medicinal products for the treatment of orphan diseases (Regulation No. 141/2000) came into force on January 22, 2000. Its purpose is to promote research, development and dissemination of medical products in the field of rare diseases.

See also

literature

  • Regine Witkowski, Otto Prokop , Eva Ullrich, W. Staude: Lexicon of Syndromes and Malformations. Causes, Genetics, and Risks. 7th edition. Springer, 2003, ISBN 3-540-44305-3 .
  • Handbook of rare diseases. Orphanet Germany. Medical University , Hanover 2007, DNB 985344504 .
  • Martin Mücke (ed.): Cases of rare diseases: patients without diagnosis. Urban & Fischer Verlag / Elsevier, 2018. ISBN 3-437-15041-3 .
  • Manuela Stier, Christine Maier (ed.): Rare diseases: Insights into the lives of affected families (= knowledge book. No. 01). Support association for children with rare diseases, Uster 2018, ISBN 978-3-9524985-0-7 .
  • Manuela Stier, Daniela Schmuki, Simon Starkl (eds.): KMSK knowledge book no 2 Rare diseases: the path, genetics, everyday life, families and life planning. Support association for children with rare diseases, Uster 2019, ISBN 978-3-9524985-1-4 .

Web links

German speaking
English speaking
Databases

Individual evidence

  1. ↑ Mücke 2018, foreword
  2. ↑ Art. 3 Para. 1 a) in Regulation (EC) No. 141/2000 of the European Parliament and of the Council of December 16, 1999 on medicinal products for orphan diseases . In: OJ. 2000 No. L 18, p. 1ff.
  3. ↑ European Commission, Directorate-General for Health and Food Safety
  4. ^ Rare Diseases and Related Terms. Office of Rare Diseases Research, National Institutes of Health, accessed May 19, 2009 .
  5. ↑ Apotheken Umschau , Edition 11/2006.
  6. ↑ a b Deutsches Ärzteblatt. November 19, 2010, p. A 2272.
  7. ↑ RARE List . April 15, 2016.
  8. ^ Public Health - European Commission. Retrieved September 26, 2017 (English).
  9. ↑ Rare Disease Day 2018 - Feb. 28. Retrieved September 26, 2017 (English).
  10. ↑ Regulation (EC) No. 141/2000 of the European Parliament and of the Council of December 16, 1999 on orphan medicinal products , accessed on September 26, 2017