Through the symposium held by Takeda Pharmaceuticals Korea on the diagnosis and treatment of Fabry and Gaucher diseases, various experts and a genetic diagnostics company participated to share their knowledge.

Specialists from various departments, including Medical Genetics, Pediatrics, and Nephrology, attended the symposium held from November 12th and 13th. The first day was dedicated to the discussion of various approaches to Fabry disease diagnosis, and the first session began with “Genetic Diagnosis of Fabry Disease,” presented by Director Gohun Seo, Chief Medical Officer of 3billion, a rare genetic disease diagnostics company.

An official from Takeda Korea said that through this symposium, held for the fifth time, they will work to improve the environment for treatment by strengthening cooperation with clinicians and supplying treatments for rare diseases like Gaucher disease and Fabry disease.

11월 12일부터 13일까지 진행된 심포지엄에는 한국의 의학유전학과, 소아청소년과, 신장내과 등 다양한 분과 전문의가 참여했습니다. 파브리병 진단 및 다양한 접근법에 대한 논의가 진행된 첫째 날 희귀질환 유전자 진단 기업인 쓰리빌리언의 Chief Medical Officer인 서고훈 이사의 ‘파브리병의 유전적 진단법’에 대한 발표로 세션1 발표가 시작되었습니다.

한국다케다 관계자는 5회째 열린 이번 심포지엄을 통해 고셔병과 파브리병을 포함한 희귀질환 치료제 공급과 더불어 의료진과 협력을 강화해 치료 환경 발전을 위해 노력하겠다고 말했습니다.

Original Article: http://www.yakup.com/news/index.html?mode=view&nid=263110


Global CRO company Emmes and Indian diagnostics company MedGenome have announced a strategic partnership for the advancement of rare disease research.

There are over 7,000 known rare diseases, but only 5% have an approved treatment. Clinical trials for rare disease treatment development are difficult due to the small number of patients and the difficult process of selecting patients through diagnosis.

Emmes CEO said he plans to work with genetic testing laboratories in India and South Asia to quickly and efficiently recruit more patients for rare disease clinical trials in order to make more clinical trials on treatments successful. The first rare disease group that Emmes and MedGenome are collaborating on includes hemophilia, Duchenne muscular dystrophies, and retinitis pigmentosa.

알려진 희귀질환이 7,000종이 넘지만, 오직 5%만이 승인된 치료제가 있습니다. 희귀질환 치료제 개발을 위한 임상 시험은 환자 수가 적고 진단을 통해 환자를 선별하는 과정이 까다로워 어려움이 많습니다.

Emmes의 CEO는 인도와 남아시아 지역의 유전자 검사 연구실과 협력을 통해 더 많은 희귀 질환 임상 시험 참여 환자를 빠르고 효율적으로 모집해, 더 많은 치료제의 임상 시험을 성공적으로 진행하기를 기대한다고 말했습니다.

Emmes와 MedGenome이 최초로 협력하는 희귀질환은 혈우병, 듀센근이영양증 그리고 색소성 망막염 입니다.

Original Article: https://www.prnewswire.com/news-releases/emmes-and-medgenome-launch-genomics-strategic-partnership-focused-on-advancing-rare-disease-research-301423527.html


The US Food and Drug Administration (FDA) approves Besremi injection to treat adults with polycythemia vera.

Polycythemia vera is a rare blood disease that causes an excess of red blood cells. Besremi is the first treatment for polycythemia vera approved by the FDA and the first interferon treatment approved for this disease. Although the effectiveness was proven with a complete hematological response in 61% of the trial participants, caution is needed as it can cause various side effects.

According to the FDA, with over 30 million people in the United States who suffer from more than 7,000 rare diseases, of which about 6,200 Americans suffer from polycythemia vera every year, the new drug approval shows the FDA's commitment to providing treatments for rare diseases.

Polycythemia vera는 희귀 혈액 질환으로, 적혈구 과잉을 유발합니다. Besremi는 FDA가 최초로 승인한 polycythemia vera 치료법이고 이 질병만을 위해 승인된 첫 인터페론 치료법입니다. 임상시험에 참가한 61%의 환자가 완벽한 혈액학적 반응을 보여 효과가 증명 되었으나, 여러 가지 부작용도 함께 유발 할 수 있어 주의가 필요합니다.

FDA 관계자는, 미국에서 7,000가지 이상의 희귀질환으로 고통받는 사람이 3천만 명이 넘고 그 중 매년 약 6,200명의 미국인이 polycythemia vera로 앓고 있다고 하면서, 이번 신약 승인은 FDA가 희귀질환 치료법을 제공하기 위해 노력하는 모습을 보여준다고 말했습니다.

Original Article: https://www.europeanpharmaceuticalreview.com/news/165489/fda-approves-besremi-to-treat-rare-blood-disease/