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ASH 2024 | Investigating novel variants in individuals with rare coagulation disorders
Amy Shapiro, MD, Indiana University Hemophilia Center, Indianapolis, IN, comments on a study that utilized whole gene sequencing and detailed phenotypic data to investigate novel variants in individuals with rare coagulation disorders across hemophilia treatment centers in the United States. The study identified 176 novel variants that may have influenced the bleeding phenotype. This research aims to increase understanding of ultra-rare bleeding disorders and optimize treatment. This interview took place at the 66th ASH Annual Meeting and Exposition, held in San Diego, CA.
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Transcript
ATHN 10 is a poster. It’s relating to novel variants in persons with rare coagulation disorders across the hemophilia treatment center network in the United States. So the aim is to increase the understanding of the nature and frequency of ultra-rare bleeding disorders through whole gene sequencing and collection of detailed phenotypic data, including bleeding scores using a system that tests for 31 identified ultra-rare bleeding disorders simultaneously...
ATHN 10 is a poster. It’s relating to novel variants in persons with rare coagulation disorders across the hemophilia treatment center network in the United States. So the aim is to increase the understanding of the nature and frequency of ultra-rare bleeding disorders through whole gene sequencing and collection of detailed phenotypic data, including bleeding scores using a system that tests for 31 identified ultra-rare bleeding disorders simultaneously. The study is performed through the American Thrombosis and Hemostasis Network, ATHN, in collaboration with the Laboratory Services for the Center for Inherited Blood Disorders, Hematology Advanced Diagnostic Laboratory. The study will reduce the barriers associated with obtaining genetic testing for ultra-rare disorders and expand the knowledge of the incidence of new pathogenic variants at a reduced cost. The study includes patients with one identified rare bleeding disorder served through the U.S. network of the hemophilia treatment centers. Males and females are included. To date, 1,255 individuals with an established ultra-rare bleeding disorder have been sequenced for the expected factor deficiency in this expanded panel. This allows identification of potential novel variants of the targeted gene and to determine the possibility of more than one genetic change impacting the bleeding phenotype. Over 20,720 whole gene sequences have been analyzed with 176 novel variants identified. In 31% of the individuals, an additional mutation was found in a second gene not suspected in the original diagnosis. Some of these secondary variants resulted in decreased production of the second affected coagulation factor, which possibly influenced the bleeding phenotype more than expected for the identified deficiency alone. ATHN 10 provides important opportunities for understanding the pathophysiology of these disorders and to optimize treatment.
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Disclosures
Plasminogen Deficiency Foundation: Membership on an entity’s Board of Directors or advisory committees; Regeneron: Research Funding; Sanofi-Genzyme/Bioverativ: Honoraria, Membership on an entity’s Board of Directors or advisory committees, Research Funding, Speakers Bureau; Hema Biologics: Membership on an entity’s Board of Directors or advisory committees; Novo Nordisk: Consultancy, Honoraria, Membership on an entity’s Board of Directors or advisory committees, Research Funding, Speakers Bureau; Pfizer: Membership on an entity’s Board of Directors or advisory committees, Research Funding; Kedrion Biopharma: Consultancy, Honoraria, Research Funding, Speakers Bureau; Takeda Pharmaceuticals: Research Funding; Pharmacosmos A/S: Research Funding; Cantessa Pharmaceuticals/ApcinteX Ltd.: Research Funding; Novo Nordisk Haemophilia Foundation: Membership on an entity’s Board of Directors or advisory committees; Be Biopharma: Membership on an entity’s Board of Directors or advisory committees; Genentech/Roche: Honoraria, Membership on an entity’s Board of Directors or advisory committees, Research Funding, Speakers Bureau; Indiana Hemophilia & Thrombosis Center, Inc.: Current Employment; BioMarin: Membership on an entity’s Board of Directors or advisory committees; NHPCC: Other: Medical Director.
