Designation of rare diseases

What is a Rare Disease?

A disease defined by the procedures and criteria set forth by the Ordinance of the Ministry of Health and Welfare as affecting a patient population of 20,000 or fewer, or a disease whose prevalence is unknown due to diagnostic difficulties (Article 2, Paragraph 1 of the "Rare Disease Control Act")

More than 80% are genetic or congenital diseases.
There is a shortage of specialists.
Even receiving a diagnosis is difficult.
There are often no treatments or therapeutic agents.
They are often fatal or cause disabilities.
The financial burden on patients is high due to many non-reimbursed drugs.
While there are many types of diseases, the number of patients per disease is small.

Designation Status

('18) 926 → ('19) 1,014 → ('20) 1,086 → ('21) 1,123 → ('22) 1,165 → ('23) 1,248 → ('24) 1,314
Link to the list of announced rare diseases

Designation Criteria

(Article 2, Paragraph 1 of the "Enforcement Rule of the Rare Disease Control Act")

Size of the patient population for the disease
Technical level of disease diagnosis
Possibility of treatment for the disease
Level of socioeconomic costs for the diagnosis and treatment of the disease
Other criteria deemed necessary by the Commissioner of the Korea Disease Control and Prevention Agency, considering the cause, characteristics, and type of the disease

Designation Review Procedure

1st
- Demand Survey
  Applications are received through the Rare Disease Helpline of the Korea Disease Control and Prevention Agency.
  * Applications can be submitted by academic societies, experts, patients, etc.
  
  Applications are accepted year-round.
  Applications received by Rare Disease Day (February 29) each year are reflected in that year's review.
2nd
- Basic Investigation by Disease
  Collection and internal review of data such as disease names, prevalence, cure rates, and scale of medical costs
  
  Collection of data on the number of patients and scale of medical costs from the HIRA [Health Insurance Review and Assessment Service] / NHIS [National Health Insurance Service], as well as international data, literature, etc.
- Consultation with academic societies and experts
  Preparation of data on prevalence (estimated), disease characteristics, etc.
  
  Consultation with medical specialists from the relevant academic society for each disease
3rd
- Consultation with related organizations(National Health Insurance Service)
  Discussion on the suitability for criteria of the special calculation exceptions for rare diseases
- Deliberation by the Rare Disease Expert Committee
  Expert members of subcommittees for each disease deliberate on the designation based on the detailed criteria for rare disease designation
- Review by Statistics Korea
  Review of disease names and codes for newly designated rare diseases based on the KCD [Korean Standard Classification of Diseases].
- Deliberation by the Rare Disease Control Committee
  Final deliberation on the designation of nationally managed rare diseases.
4th
- Announcement and Enforcement
  Announcement of the list of nationally managed rare diseases.
  Announcement of the list of nationally managed rare diseases. Application to the special calculation exception program for rare diseases and the medical expense support project for rare disease patients (from the following year).
  
  Posted on the website of the Korea Disease Control and Prevention Agency.

Application for New Rare Disease Designation

‘Applications can be submitted through the Rare Disease Helpline website ( https://helpline.kdca.go.kr )

Link to apply for rare disease designation