1. Sanofi's first treatment for acid sphingomyelinase deficiency (ASMD), olipudase alfa (Xenpozyme), was approved in Japan. It is expected to be approved in the second half of this year in the US and Europe as well. ASMD is also called Niemann-Pick disease, and the drug targets three of the four types except for type C.

    일본에서 Sanofi의 acid sphingomyelinase deficiency(ASMD) 최초의 치료제 olipudase alfa(Xenpozyme)이 승인되었습니다. 미국과 유럽에서도 하반기에 승인될 것으로 기대됩니다. ASMD는 Niemann-Pick disease라고도 불리며, 이 치료제는 네 가지 타입 중 type C를 제외한 세 가지 타입을 대상으로 합니다.
    Original Article: Endpoint News. Paul Hudson's rare disease pivot takes a small step forward, as Niemann-Pick drug wins Japan approval

  2. Recordati has published the results of a Phase 3 LINC 4 study of ISTURISA, a treatment for Cushing's disease. Cushing's disease is a rare disease with a prevalence of 1 to 2 per million people per year. ISTURISA was approved for marketing by the FDA in March 2020, and this clinical study was conducted to evaluate the safety and efficacy for Cushing's disease patients. The clinical study results were published in The Journal of Clinical Endocrinology & Metabolism.

    Recordati가 Cushing 병 치료제인 ISTURISA의 임상 3상 LINC 4 연구 결과를 발표했습니다. 쿠싱병은 연간 백만 명당 1~2명 유병률을 가진 희귀질환입니다. ISTURISA는 2020년 3월 FDA 시판 승인을 받았으며, 이번 임상 연구는 쿠싱병 환자를 대상으로 안전성과 효능을 평가하기 위해 진행되었습니다. 임상 연구 결과는 The Journal of Clinical Endocrinology & Metabolism에 게재되었습니다.
    Original Article: Business Wire. Recordati Rare Diseases Announce Publication in The Journal of Clinical Endocrinology & Metabolism of the Phase III LINC 4 Study Confirming Efficacy and Safety of ISTURISA® (osilodrostat) in Patients With Cushing's Disease

Rare disease diagnostics & research

  1. Definitive Healthcare conducted a survey of healthcare providers involved in diagnosing or treating rare diseases in 2021. As a result of the study, the biggest difficulties in diagnosing and treating rare diseases are the lack of education on rare diseases and the lack of awareness of rare disease symptoms. In addition, expansion of education for physicians, expansion of cooperation with facilities specializing in rare diseases, and NGS were selected as factors that will have the greatest positive impact in the field of rare diseases within the next five years.

    Definitive healthcare에서 2021년 희소 질환 진단 또는 치료에 관련된 의료 제공자들을 대상으로 설문조사를 진행했습니다. 희소 질환 진단과 치료의 가장 큰 어려움이 의사 대상 희소 질환 교육 부족과 희소 질환 증상에 대한 인식 부족이라고 답했습니다. 그리고 향후 5년 내에 희소 질환 영역에서 가장 큰 긍정적인 영향을 미칠만한 요소로, 의사를 위한 교육 확대, 희소질환 전문 시설과의 협력 확대, NGS가 꼽혔습니다.
    Original Article: Definitive Healthcare. 2021 rare disease study

Rare disease policy reform

  1. Although the Indian government has not yet established a clear definition of rare disease, it is estimated that there are 72 to 96 million people living with rare diseases in India. In the article, Praveen Sikri, CEO of Ikris Pharma Network, introduces the Indian government's rare disease policies that began in 2017 and argues that more policy support and resource allocation are needed.

    인도 정부는 아직 희소 질환에 대한 명확한 정의를 내리지 않았지만, 인도 내 희소 질환 환자를 7200만 명 ~ 9600만 명으로 추산하고 있습니다. Ikris Pharma Network의 CEO, Praveen Sikri는 2017년부터 시작된 인도 정부의 희소 질환 정책들을 소개하고, 더 많은 정책 지원과 자원 할당이 필요하다고 주장하고 있습니다.
    Original Article: The Times of India. New rare disease policy in India and its impact for patients