相关临床试验
204
7 进行中
药物批准
0
批准总数
监管机构
0
监管机构数
成立时间
1989
进行中（未招募）
4
2.0%
已完成
155
76.0%
Enrolling By Invitation
3
1.5%
招募中
29
14.2%
终止
10
4.9%
撤回
3
1.5%
暂无批准数据
- An international team led by Johns Hopkins University has assembled the first complete, telomere-to-telomere phased diploid human genome from a single cell line, capturing both parental chromosome sets. - The new genome reveals approximately 15% more genetic information than previous benchmarks, adding over 900 million DNA letters including regions linked to cancer and neurological disorders. - Sequencing costs have dropped from roughly $5 billion in 2003 to approximately $5,000 today, making routine clinical use of complete personal genomes increasingly realistic. - The breakthrough establishes a new benchmark for DNA sequencing technology and is expected to improve diagnosis of rare diseases, particularly in children, by detecting variants in previously inaccessible genomic regions.
- The NIH-funded Population Genomic Screening Network will pilot genomic screening for actionable genetic conditions in primary care settings across six U.S. clinical sites. - Baylor College of Medicine will serve as the sequencing center with $9.9 million over five years, while UAB receives $4.9 million to enroll approximately 5,000 participants. - Screening will target CDC Tier 1 conditions including hereditary breast and ovarian cancer, Lynch syndrome, and familial hypercholesterolemia, plus additional conditions like transthyretin amyloidosis and hypertrophic cardiomyopathy. - The initiative aims to shift from reactive care to proactive prevention by returning genomic results to patients and providers with evidence-based follow-up recommendations.
- The FDA cleared an Investigational New Drug (IND) application for MMA-101, an adeno-associated virus (AAV)-based gene therapy candidate for patients with methylmalonyl-CoA mutase (MMUT) methylmalonic acidemia, a rare pediatric metabolic disease with no approved treatments. - The IND clearance allows a first-in-human Phase I/II clinical trial to move forward at the NIH Clinical Center, sponsored by the National Human Genome Research Institute in collaboration with NCATS and several NIH partners. - The program represents a unique effort to revive and develop a rare disease therapy after Selecta Biosciences discontinued its MMA gene therapy program in 2023 due to commercial constraints and donated the manufactured drug product to NIH. - MMA-101 is designed to deliver a functional copy of the human MMUT gene to the liver using a serotype-8 AAV vector, potentially restoring MMUT enzyme activity without the risks associated with liver transplantation and lifelong immunosuppression.
- The FDA approved nitisinone (Harliku) as the first and only treatment for alkaptonuria, a rare genetic metabolic disorder affecting 1 in 250,000 to 1 million Americans. - A 3-year randomized clinical trial of 40 patients demonstrated that nitisinone improved pain, energy levels, and physical functioning compared to untreated controls. - Alkaptonuria causes buildup of homogentisic acid leading to joint problems, ochronosis, and complications in kidneys and heart, with the medication expected to launch in July 2025. - The approval represents a significant breakthrough for patients who previously had no approved therapeutic options for this debilitating condition.
- Baylor College of Medicine receives a $3.5 million grant from the National Human Genome Research Institute for the MAGNET program, aiming to improve genetic diagnoses for newborns in underserved Texas NICUs. - The MAGNET program will utilize low-cost whole genome and RNA sequencing technologies and adapt Baylor’s Consultagene platform for inpatient use, virtual genetic counseling, and provider consultation. - The program will establish a consortium of clinical partner sites in West and South Texas, training on-site providers in genomic medicine to integrate genomic data into clinical decisions. - Researchers will study the impact of increased access to genomic services on patients, families, and providers to develop best practices for cost-effective genomic platforms in under-resourced settings.
