1. Dissemination of treatments for rare diseases has many challenges even after development and marketing approval. Among them, this article deals with the distribution of rare disease treatments by pharmaceutical companies. With as few as 20 to as many as 200,000 patients in need of treatment for a rare disease located across the United States, the cost of the drug can be as high as a million dollars, and each drug requires unique dosing and storage considerations. Various distribution strategies are introduced in the article to overcome these difficulties.

    희귀 질환 치료제 보급은 개발 및 시판 승인 이후 과정에도 많은 어려움이 있습니다. 그중 이 기사는 제약사의 희귀질환 치료제 유통에 대한 내용을 다루고 있습니다. 적게는 20명에서 많게는 200,000명의 희귀질환 치료제가 필요한 환자가 미국 전역에 위치하고, 약값은 백만 달러에 이를 만큼 높으며, 약물마다 다양한 처방 용량 보관 조건이 필요합니다. 기사에는 이 같은 어려움을 극복하기 위한 다양한 유통 전략이 소개되고 있습니다.
    Original Article: Pharmaceutical Technology. Navigating distribution challenges for rare disease drugs
  2. The FDA has rejected the approval of Reata Pharmaceutical’s Alport syndrome therapeutics, a rare kidney disease. There is currently no approved treatment for Alport syndrome.

    FDA가 Reata Pharmaceutical의 희귀 신장질환인, Alport syndrome 치료제 승인을 거절했습니다. Alport syndrome은 현재까지 승인된 치료제가 없습니다.
    Original Article: BioPharma Dive. FDA rejects Reata drug for rare kidney disease

  3. Due to the Covid-19 pandemic, the number of drugs approved for rare diseases has decreased by 20% in 2020 compared to 2019. Before the pandemic, there was a 19% increase in the number of approved rare disease treatments in 2019 compared to 2017. The article speculates that the decline may have been due to pharmaceutical companies' focus on developing Covid-19 treatments.

    코로나 팬데믹 영향으로 희귀질환 치료제 시판 승인 건수가 2019년에 비해 2020년 20% 감소했습니다. 팬데믹 이전에는 2017년 대비 2019년에 승인된 희귀질환 치료제 숫자가 19% 증가 했습니다. 기사에서는 제약사들이 코로나19치료제 개발에 집중했기 때문에 감소한 것으로 추정하고 있습니다.
    Original Article: Pharmaceutical Technology. Generic rare disease approvals fell significantly during the early pandemic

Rare disease diagnostics & research

  1. Screen4Care, a consortium for the early diagnosis of rare diseases, was formed in Europe. Pharmaceutical companies such as Pfizer, Roche, Takeda, and Sanofi; rare disease organizations including EURODIS, and researchers from a number of universities and hospitals participate in the consortium.

    유럽에서 희귀질환 조기 진단을 위한 컨소시엄 Screen4Care가 결성되었습니다. 화이자, 로슈, 다케다, 사노피 등 제약사와 EU, EURODIS를 포함한 희귀질환 단체들, 다수의 대학교와 병원의 연구자들이 컨소시엄에 참여합니다.

    Original Article: Genomeweb. EU Project Screen4Care Will Apply Sequencing, AI to Screen Newborns for Rare Diseases

  2. In the UK, healthy newborns will also be tested for WGS to diagnose genetic disorders. In commemoration of Rare Disease Day on February 28, 2022, the UK government announced plans for early diagnosis and treatment of rare diseases through the Rare Diseases Action Plan.

    영국에서 건강한 신생아들도 유전질환 진단을 위해 WGS 검사를 받게 될 예정입니다. 2022년 2월 28일 희귀질환의 날을 맞아 영국 정부는 Rare Diseases Action Plan을 통해 희귀질환 조기 진단과 치료법 개발을 위한 계획을 발표했습니다.
    Original Article: GOV.UK. Millions of people with rare diseases to benefit from faster diagnosis and better access to treatment

  3. The Turkish Ministry of Health has announced that it will start screening newborns for spinal muscular atrophy (SMA). Neuromuscular diseases, including SMA, are a major rare disease in Turkey, with an average of 170 babies born each year in Turkey.

    터키 보건부는 spinal muscular atrophy(SMA)에 대해 신생아 스크리닝 검사를 시작하겠다고 발표했습니다. SMA를 포함한 신경근 질환은 터키의 주요 희귀 질환으로 터키에서 매년 평균 170명의 SMA 질환을 앓는 아기가 태어나고 있습니다.
    Original Article. Daily Sabah. Turkey will soon screen newborns for rare disease SMA

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