Bridgebio Pharma, Inc. · NASDAQ:BBIO
Bridgebio Pharma — ENDO 2023 Annual Meeting
5 slides from Bridgebio Pharma's conference presentation, June 2023
Slide 1: Next-Generation Sequencing for Detection of Underlying Genetic Causes of Nonsurgical Hypoparathyroidism
NEXT-GENERATION SEQUENCING FOR DETECTION OF UNDERLYING GENETIC CAUSES OF NONSURGICAL HYPOPARATHYROIDISM: P R E L I M I N A R Y R E S U LT S F R O M A S P O N S O R E D T E S T I N G P R O G R A M Prepared for presentation at the ENDO 2023 Annual Meeting 1M Mannstadt, 2AS Mathew, 2AV Sridhar, 2LMS Sm
Slide 2: Introduction
INTRODUCTION Hypoparathyroidism (HP) is a rare condition characterized by inadequate production of parathyroid hormone (PTH) to maintain normal blood calcium levels Causes of Hypoparathyroidism Post-Surgical Genetic Autoimmune Unknown/Idiopathic (70-80% of cases)1 (10-15% of cases)1,2 (<10% of cases
Slide 3: Program Background
PROGRAM BACKGROUND A sponsored genetic testing program using next-generation whole exome sequencing was made available at no-charge for patients with suspected genetic hypoparathyroidism who meet the eligibility criteria PROGRAM ELIGIBILITY CRITERIA 26-GENE The individual must reside in the US and m
Slide 4: Results
RESULTS A total of 181 samples were submitted from participants with a mean±SD age of 24.7±21.5 (range 0-81) 86 variants were detected in 71 individuals † CHD7 2.3% FAM111A 2.3% GATA3 7.0% 60.8% GCM2 2.3% GNA11 4.7% (110/181) HADHA 1.2% HADHB 1.2% PTH 2.3% TBCE 1.2% TBX1 9.3% CASR 52.3% 39.2% SL
Slide 5: Conclusion
CONCLUSION Genetic testing identified clinically-relevant variants in approximately 2 of 5 individuals with † nonsurgical hypoparathyroidism No-Charge Testing Kit Genetic forms should be considered in all patients with hypoparathyroidism without history of neck surgery or other obvious causes; p