Core35: Orphan drugs

🦓 High-yield / 要点：Orphan drugs treat rare diseases. Rare disease prevalence is <1:2000, and about 80% have genetic origin.

Definition / 定義

• Orphan drugs = drugs for rare diseases.
• Rare disease:
  • Prevalence <1:2000.
  • Often genetic; around 80% genetic origin.

Development advantages / 開発上の利点

• Special regulatory pathways.
• Faster/easier market access.
• Authorities may help with protocol development.

Difficulties / 問題点

• Small patient population.
• Difficult to test safety and efficacy with large trials.
• Less research/commercial interest.

Example / 例

• Gaucher disease type 1
  • Lysosomal storage disease.
  • Glucocerebrosidase lysosomal enzyme function is insufficient.
• Therapy example:
  • Miglustat
  • Inhibits glucosylceramide synthase.
  • Substrate reduction therapy.

Remember / 覚え方

• Rare disease <1:2000
• Small population = difficult evidence generation
• Orphan drug development gets regulatory support