Pfizer will resume phase 3 clinical trials for its Duchenne muscular dystrophy gene therapy, which were halted due to safety concerns. This gene therapy, developed by Sarepta and clinical trials conducted by Pfizer, resulted in the death of a patient who participated in phase 1 clinical trials. The cause of death and effect of the drug are still being investigated.
An FDA pilot project that could accelerate the development of rare disease treatments has been proposed. Establishing appropriate efficacy endpoints for treatments in clinical trials is one of the many challenges. The ‘Rare Disease Endpoint Advancement Program’ has been proposed to improve clinical trials for rare diseases by strengthening the FDA’s cooperation with pharmaceutical companies.
희귀 질환 치료제 개발을 가속화 할 수 있는 FDA의 시범 사업이 제안되었습니다. 희귀 질환 치료제의 개발이 어려운 여러 이유 중 치료제의 적절한 efficacy endpoint를 설정하는 것이 특히 까다롭다고 알려져있습니다. 시범 사업 ‘Rare Disease Endpoint Advancement program’은 제약 회사들과 FDA의 협력을 강화해 희귀질환 치료제 임상 시험을 개선하기 위해 제안되었습니다. Original Article: MarketWatch. New FDA program could boost drug development for rare diseases
Rare disease diagnostics & research
This article introduces that Whole Exome Sequencing (WES) and Whole Genome Sequencing (WGS) tests can be effective prenatal diagnostic tests. A research paper states that WGS can replace the existing diagnostic method for fetal anomalies. In addition, according to an interview with a researcher, Trio WES testing was found to be more effective for prenatal diagnostic testing than the WGS test.
Biopharmaceutical company Zogenix announced the ‘UMDF Pilot Genetic Testing Project’, which provides free support for mitochondrial genetic disease testing through the United Mitochondrial Disease Foundation. The test includes the TK2 gene, and Zogenix is developing a treatment for thymidine kinase 2 deficiency, a disease related to this gene. Candidates who wish to participate in the program can apply online and receive a kit for sampling.
A benchmark dataset of 273 medically relevant autosomal genes was released by the Genome in a Bottle Consortium. Genes previously excluded from analysis will be explored, enabling clinical laboratories to utilize updated datasets to detect and validate additional pathogenic variants.
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…