Rare Disease

Rare Diseases: Definition in different countries

  • January 24, 2023
  • 4 mins read

Rare diseases are often chronic and progressive life-threatening medical conditions that affect a lower percentage of the population than other diseases. There is no universal definition for rare disease; it differs from region to region. Such rare conditions can be treated with medications known as orphan drugs.

The definition of rare diseases according to the different regions:

Asia countries

  1. China: The latest definition of a rare disease in China was released on September 11, 2021, at the third multidisciplinary expert seminar on the definition of rare diseases/orphan drugs in China. A rare disease is defined as a condition satisfying at least one of the following three criteria: an incidence among newborns of less than 1/10,000, a prevalence of less than 1/10,000, and an affected population of less than 140,000.
  2. India: As per the Ministry of Health and Family Welfare, the Government of India formulated a National Policy for Treatment of Rare Diseases (NPTRD); India faces the limitation of lack of epidemiological data to be able to define rare diseases in terms of prevalence or prevalence rate, which other countries have used. Until epidemiological data is available and the Country arrives at a definition of a rare disease based on prevalence data, the term rare diseases, for this policy, shall construe the following groups of disorders identified and categorized by experts based on their clinical experience:
    • Group 1: Disorders amenable to one-time curative treatment.
    • Group 2: Diseases requiring long-term/lifelong treatment having a relatively lower cost of treatment and benefit have been documented in the literature, and annual or more frequent surveillance is required.
    • Group 3: Diseases for which definitive treatment is available, but challenges are to make an optimal patient selection for benefit, very high cost, and lifelong therapy.
  3. Japan: In Japan, there is no fixed definition for Rare Diseases, although the concept is included in the definition of Orphan Drugs. It should be noted that Japan has a system to deal with diseases designated as “Intractable Diseases,” the definition of which is provided in the Act on Medical Care for Intractable Disease Patients (the “Intractable Disease Act”), but the range and definition of Rare Diseases do not necessarily correspond to those of Intractable Diseases.
  4. Singapore: The Singapore Ministry of Health and the SingHealth Fund jointly established the Rare Disease Fund (RDF) in July 2019; rare diseases affect fewer than one in 2,000 people.
  5. South Korea: According to Article 2 of the Rare Disease Management Act, the term “rare disease” refers to a disease in which the prevalence population is less than 20,000 or the prevalence population is unknown due to difficulty in diagnosis and is defined per the procedures and standards prescribed by Ordinance of the Ministry of Health and Welfare.

Oceania

  1. Australia: As per the 16J of the Therapeutic Goods Regulations 1990, Statutory Rules No. 394, 1990 made under the Therapeutic Goods Act 1989, In Australia, a disease is considered rare if it affects less than 5 in 10,000 people.

Central American

  1. Panama: Article 2 of Law 28 of October 2014 says that for this Law, rare diseases shall be understood to mean little frequent and Orphan those chronically debilitating or severe that threaten and life-threatening, which may be of genetic origin or unknown causes and that require therapy specialized and permanent, with a prevalence of less than 1 in every 2,000 people.

Eurasia

  1. Russian Federation: Article 44 of the Federal Law of 21.11.2011 No. 323-FZ On the basics of protecting the health of citizens in the Russian Federation states that Rare or Orphan diseases are diseases with a prevalence of no more than 10 cases of the disease per 100 thousand population.

Europe

  1. European Union: Article 3 of the Regulation (EC) No 141/2000 of the European Parliament and of the Council of December 16, 1999, on orphan medicinal products, states that if a life-threatening or chronically debilitating condition affects not more than five in 10 thousand persons in the Community is considered as a rare disease.
  2. Norway: Article 3 of the Regulation (EC) No 141/2000 of the European Parliament and of the Council of December 16, 1999, on Orphan medicinal products states that if a life-threatening or chronically debilitating condition affects not more than five in 10 thousand persons in the Community considered as a rare disease.
  3. Switzerland: Article 4 of the 812.21 Federal Act of December 15 2000, on Medicinal Products and Medical Devices (Therapeutic Products Act, TPA) defines a disease affecting no more than five in ten thousand people in Switzerland should be considered a rare disease.

North America

  1. Mexico: Article 224 Bis of the General Law of Health (2012) states that a rare disease affects fewer than 5 people per 10,000 inhabitants.
  2. United States: The definition of Rare diseases in the United States means a disease affecting less than 200,000 persons in the United States.

South America

  1. Argentina: Rare diseases occur in less than five people per 10,000 inhabitants, and there are more than seven thousand diseases.
  2. Brazil: Article. 3 I of the Ordinance No. 205 of December 28, 2017, considers rare diseases are those diseases that occur up to sixty-five people in every hundred thousand individuals.
  3. South America: Article 2 of the Law 1392 of 2010 2/9 states rare diseases mean less than 1 in every 2,000 people, including rare, ultra-orphan, and neglected diseases.
  4. Peru: Article 2.3 of the SUPREME DECRET NO. 004-2019-SA Regulation of Law N ° 29698, Law Declaring the Treatment of People Suffering Rare and Orphan Diseases of National Interest and Preferring Care, states that diseases that affect less than 1 per 100,000 inhabitants are considered rare diseases.

Reference: https://www.keionline.org/wp-content/uploads/KEI-Briefing-Note-2020-4-Defining-Rare-Diseases.pdf

https://www.fda.gov/patients/rare-diseases-fda