美国罕见疾病创新和成本趋势到2019年

关键发现

The total number of orphan indications reached 838 from the passage of the Orphan Drug Act to the end of 2019 and were awarded to 564 distinct drugs.

累积数量的孤儿指示和不同的药物，至少有一个孤儿征收的孤儿指示。

• In the last three years, there have been 246 new orphan indications, which is approximately 30% of the total indications ever granted under the Orphan Drug Act (ODA).
• The number of approved orphan indications is growing faster than the number of drugs, as some drugs have multiple indications.
• 2019年，有25％的药物具有多种孤儿指示，因为同一药物的多种孤儿适应症越来越普遍，尤其是在癌症和自身免疫性疾病中
  
  

制造商在囊性纤维化方面的一项持续投资将可治疗的患者人群扩大到估计患病率的90％。

• 如囊性纤维化患者人群所示，制造商在孤儿指示中的持续投资为服务不足的患者带来了关键的治疗。
• In 2012, ivacaftor (Kalydeco) received its first orphan indication for patients with a G551D mutation in the CFTR gene, found in approximately 4% of patients.
• Subsequent label expansions for ivacaftor as well as approvals and label expansions of ivacaftor/lumacaftor (Orkambi), ivacaftor/tezecaftor (Symdeko), and the 2019 approval of Trikafta have expanded the treatable patient population to 90% of prevalence.

孤儿指示发票支出占美国发票支出的11％，2019年总计580亿美元。

1992 - 2019年美国孤儿药的发票支出，US $亿美元

• 2019年，孤儿迹象的总发票支出占580亿美元的发票总支出，而3780亿美元用于非孤儿药。
• 820亿美元的发票支出是有孤儿和非孔指迹象的非孔子指示。
• 孤儿批准数量的显着增加已将孤儿的份额从1992年的2％提高到2019年的11％，而2013年发票支出的7％则增加。
  
  

Since the start of the COVID-19 pandemic, new therapy start prescriptions are cumulatively down 31%, while new patients initiating orphan drug therapy are down 21%.

• 在正在进行的COVID-19大流行期间，开始新的疗法（去年患者在同一疗法中没有接受治疗的情况下）受到了显着影响，这表明没有发生新的孤儿疾病诊断。
• However, orphan drug new start prescriptions have been more insulated from health system disruptions than other segments, with a cumulative decrease of 21% in new start prescriptions from baseline.
• As rare diseases typically go undiagnosed longer than more common diseases and require many physician visits to receive a confirmed diagnosis, COVID-19 could be delaying initial diagnosis for many patients with rare diseases.