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PMDA Perspective on Use of Real-World Data and Real-World Evidence as an External Control: Recent Examples and Considerations.
Clin Pharmacol Ther
January 2025
Center for Regulatory Science, Pharmaceuticals and Medical Devices Agency, Tokyo, Japan.
Recent discussions about the utilization of real-world data (RWD) and real-world evidence (RWE) have been more focused on drug development for regulatory approval rather than during the post-marketing stage. In Japan, RWD/RWE have been practically utilized as an external control for drug approval. Most cases were related to orphan diseases where the feasibility of conducting randomized controlled clinical trials was generally low.
View Article and Find Full Text PDFThe role of pangenomics in orphan crop improvement.
Nat Commun
January 2025
School of Biological Sciences, University of Western Australia, Perth, WA, Australia.
Global food security depends heavily on a few staple crops, while orphan crops, despite being less studied, offer the potential benefits of environmental adaptation and enhanced nutritional traits, especially in a changing climate. Major crops have benefited from genomics-based breeding, initially using single genomes and later pangenomes. Recent advances in DNA sequencing have enabled pangenome construction for several orphan crops, offering a more comprehensive understanding of genetic diversity.
View Article and Find Full Text PDFInformation extraction from historical well records using a large language model.
Sci Rep
December 2024
Earth & Environmental Sciences Division, Los Alamos National Laboratory, Los Alamos, NM, 87544, USA.
To reduce environmental risks and impacts from orphaned wells (abandoned oil and gas wells), it is essential to first locate and then plug these wells. Manual reading and digitizing of information from historical documents is not feasible, given the large number of wells. Here, we propose a new computational approach for rapidly and cost-effectively characterizing these wells.
View Article and Find Full Text PDFFamily Genetic Risk Communication and Reverse Cascade Testing in the BabySeq Project.
Genet Med
December 2024
Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA; Harvard Medical School, Boston, MA.
Purpose: Genomic sequencing of newborns (NBSeq) can initiate disease surveillance and therapy for children, and may identify at-risk relatives through reverse cascade testing. We explored genetic risk communication and reverse cascade testing among families of newborns who underwent exome sequencing and had a risk for autosomal dominant disease identified.
Methods: We conducted semi-structured interviews with parents of newborns enrolled in the BabySeq Project who had a pathogenic or likely-pathogenic (P/LP) variant associated with an autosomal dominant (AD) childhood- and/or adult-onset disease returned.
Association between fundamental movement skills and accelerometer-measured physical activity in orphan children with severe intellectual disabilities.
BMC Pediatr
December 2024
School of Physical Education, Shanghai University of Sport, 399 Changhai Road, Shanghai, 200438, P. R. China.
Background: Children with intellectual disabilities (ID) typically exhibit low levels of physical activity (PA) and delayed motor skills. Understanding the motor skill factors that influence PA participation in this population is essential for designing effective interventions. The purpose of this study was to examine the association between fundamental motor skills (FMS) and objectively measured PA among orphan children with severe ID residing in welfare institutions.
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