The FDA has approved Agios' Pyrukynd, the first treatment for hemolytic anemia in patients with pyruvate kinase (PK) deficiency. It is known that PK deficiency occurs in 3-9 people per 1 million people, but it is difficult to accurately determine the prevalence rate because it is often misdiagnosed or undiagnosed. The first treatment for PK deficiency is of great significance to patients who have been experiencing many challenges with various symptoms throughout their lives.
FDA가 Agios의 PK(Pyruvate kinase) deficiency 환자의 용혈성 빈혈에 대한 첫 치료제인 Pyrukynd를 승인했습니다. PK deficiency는 인구 백만 명당 3~9명꼴로 발생한다고 알려졌지만, 오진단 되거나 미진단 되는 경우가 많아 정확한 유병률 파악이 어렵습니다. PK deficiency의 최초 치료제는 평생 다양한 증상으로 많은 어려움을 겪는 환자들에게 큰 의미가 있습니다. Original Article: Medscape.FDA Approves First Drug for Rare Inherited Anemia
The FDA review process for BioMarin's Phenylketonuria (PKU) gene therapy will be suspended for the time being. The FDA has requested a non-clinical test to evaluate the oncogenic risk of the treatment in human patients. A virus called AAV is used for gene transfer, and during experiments, tumors have been found in animals receiving the treatment. However, similar oncogenic effects have not been observed in more than 1000 human patients who received AAV gene therapy to date.
Gene therapy for Tay-Sachs disease was first administered to two kids and showed significant effects. Tay-Sachs is a neurological disease caused by a HexA protein deficiency. In this article, professor Miguel Sena-Esteves of UMass Chan Medical School presents the achievements of gene therapy research. The research team developed a gene therapy using a viral vector that passes the blood-brain-barrier to deliver a therapeutic gene, and administered it to two infant patients to confirm the therapeutic effects. The team is conducting a follow-up clinical trial with more patients.
희귀질환 Tay-Sachs의 유전자 치료제가 2명의 유아에게 최초로 투여되었고 의미 있는 효과를 보였습니다. Tay-Sachs는 HexA 단백질 결핍으로 유발되는 신경계 질환입니다. 이 기사에 UMass Chan Medical School의 Miguel Sena-Esteves 교수는 유전자 치료제 연구 성과를 소개하고 있습니다. 연구자가 속한 연구팀은 바이러스 벡터를 활용해 blood-brain-barrier를 통과해 치료 유전자를 전달하는 유전자 치료제를 개발했고 두 명의 유아 환자에 투여해 치료 효과를 확인했습니다. 현재 더 많은 환자를 대상으로 한 후속 임상 시험이 진행 중입니다. Original Article: Scientific American.First Gene Therapy for Tay-Sachs Disease Successfully Given to Two Children
Rare disease diagnostics & research
Research has been published that WGS outperformed conventional test methods in diagnosing neurological repeat expansion disease. Repeat expansion disorders include Fragile X syndrome, Huntington's disease, Friedreich's ataxia, and amyotrophic lateral sclerosis. Until now, physicians have relied on PCR to examine specific gene locations for diagnosing such diseases, but it was difficult to diagnose some patients with atypical symptoms or no family history. This study analyzed data from patients who participated in the UK's 100,000 Genome Project.
WGS가 기존 검사법들과 비교해 neurological repeat expansion 질환 진단 성능이 뛰어나다는 연구 결과가 발표 되었습니다. Repeat expansion disorder에는 fragile X syndrome, Huntington’s disease, Friedreich’s ataxia, amyotrophic lateral sclerosis 등이 속해 있습니다. 지금까지는 위 질병 진단을 위해 특정 유전자 위치를 PCR 하는 방식에 의존해 왔지만, 비전형적인 증상을 보이거나 가족력이 없는 경우에는 진단이 어려웠습니다. 이 연구 결과는 영국의 100,000 Genome Project 에 참여한 환자들을 분석해 나왔습니다. Original Article: Genomeweb.Whole-Genome Sequencing Can Diagnose Neurological Repeat Expansion Disorders, UK Study Finds
Genomic analysis company Dante Labs and the Renato Dulbecco Foundation have announced a new drug development partnership. To discover new drugs for COVID-19 and rare diseases, they plan to use Dante Labs' NGS data analysis platform to discover nano-antibodies that can be used as treatments.
Rare disease pharmaceutical industry trendsIonis Pharmaceutical and AstraZeneca announced that they had succeeded in Phase 3 clinical trial of co-developing transthyretin amyloidosis treatment(eplontersen). However, the…