Study confirms ADH1 genetic prevalence, reveals diagnostic gap

Published 23/07/2025, 12:40
Study confirms ADH1 genetic prevalence, reveals diagnostic gap

PALO ALTO - BridgeBio Pharma, Inc. (NASDAQ:BBIO), a biotech company with an $8.69 billion market capitalization and impressive 66.5% stock return over the past year, published an analysis in the American Journal of Human Genetics confirming the genetic prevalence of autosomal dominant hypocalcemia type 1 (ADH1) and highlighting significant underdiagnosis of the condition. According to InvestingPro data, the company’s stock is trading near its 52-week high of $48.68, reflecting strong investor confidence in its research pipeline.

The study, which examined data from more than 700,000 individuals across four biobanks, found that approximately 3.7 per 100,000 people carry gain-of-function variants in the CASR gene that cause ADH1. This translates to an estimated 25,000 carriers in the U.S. and EU, aligning with previously published estimates.

Researchers discovered that only about 20% of individuals with genetic variants linked to ADH1 had received a proper diagnosis, indicating a substantial gap in disease recognition and patient care.

The analysis also identified nine previously unknown gain-of-function CASR variants associated with symptoms consistent with ADH1, a genetic form of hypoparathyroidism that can cause seizures, irregular heart rhythms, muscle cramps, and breathing problems.

"Beyond expanding the number of genetic variants linked to ADH1, this work reinforces the vital role of genetic testing in uncovering the underlying cause of hypoparathyroidism," said Dr. Michael Mannstadt of Massachusetts General Hospital and Harvard Medical School, according to the press release.

BridgeBio’s Phase 3 clinical trial of encaleret for ADH1, called CALIBRATE, has completed enrollment with 71 participants. The company expects to report topline results in the second half of 2025. If successful, encaleret would be the first approved therapy specifically for ADH1. While the company maintains a strong liquidity position with a current ratio of 4.57, InvestingPro analysis indicates it is not yet profitable, with analysts anticipating continued losses this year.

The company also plans to initiate a registrational study of encaleret in chronic hypoparathyroidism in 2026.

Encaleret has received Fast Track Designation by the U.S. FDA and Orphan Drug Designation in the U.S., European Union, and Japan. With the company’s next earnings report due on July 31, 2025, investors seeking deeper insights can access comprehensive analysis and 8 additional ProTips through InvestingPro’s detailed research report, which provides expert analysis on BridgeBio’s financial health, valuation metrics, and growth potential.

In other recent news, BridgeBio Pharma has been actively making headlines with several developments. The company recently announced a royalty financing agreement for its BEYONTTRA drug in Europe, securing a $300 million upfront payment by selling 60% of royalties on the first $500 million of annual net sales. This deal has led H.C. Wainwright to maintain its Buy rating on the stock, with a price target of $56.00. Meanwhile, Truist Securities has initiated coverage on BridgeBio with a Buy rating and a $66.00 price target, driven by the successful launch of Attruby in ATTR-CM, which is gaining traction as a preferred treatment option.

Jefferies also initiated coverage with a Buy rating and a $70.00 price target, expressing optimism about Attruby’s potential to generate significant sales. Citi has reiterated its Buy rating and a $67.00 price target, following a webinar on the company’s pipeline drug BBP-418, which is being developed for a rare neuromuscular disorder. Additionally, Cantor Fitzgerald reiterated an Overweight rating with a $95.00 price target, citing multiple upcoming catalysts that could drive the stock higher. These developments reflect a positive outlook from various analysts on BridgeBio’s future prospects.

This article was generated with the support of AI and reviewed by an editor. For more information see our T&C.

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