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The ARUP Clinical Investigations team includes (back row, left to right) Galina Chernova, Kendall Ence, Qian Guo, Stephanie Harrison, and Jacob Brugger; (middle row, left to right) Nicholas Mangome, Chau Trinh, Ani Schjelderup, Carrie Pederson, and Amy Ballard; (front row, left to right) Toni Pollock, Katharina Pennington, Karis Tran, and Rachel Lloyd.
A new therapy shows promising results for patients who have nonadvanced systemic mastocytosis. Cogent Biosciences, Inc. has announced positive results from Part 2 of its SUMMIT clinical trial of bezuclastinib. Through robust laboratory testing and rigorous quality standards, ARUP Laboratories’ central pathology review service has provided key support to the study by facilitating confirmation of diagnosis and biomarker data for assessment of therapy response.
The central pathology review service, a part of ARUP’s PharmaDx department, allows drugmakers to partner with ARUP’s expert pathologists to confirm diagnosis and subclassification of disease for potential study subjects and monitor patients’ response to therapy throughout the clinical trial.
“Our central pathology review service offers dedicated team members and resources to provide a hands-on, customized service to biopharma partners,” said Jay Patel, MD, MBA, ARUP vice president of Clinical Trials and PharmaDx.
Katharina Pennington, BS, PMI-PMP®, a project manager on ARUP’s PharmaDx team, and her colleagues have worked tirelessly to oversee the receipt of samples, ensure complete testing is performed, and resolve any potential issues to meet the needs of the study.
Since May 2022, ARUP’s teams have performed testing on samples from the clinical trial. The initial comprehensive evaluation included microscopic review of blood, bone marrow aspirate, and core biopsy samples and immunohistochemical studies by one of ARUP’s expert hematopathologists. Supplementary data was also provided using molecular methods and serum tryptase measurements.
“Diagnosis and subclassification of mast cell disease is complex, and a pathologist needs to bring all of this information to bear,” Patel said.
Systemic mastocytosis (SM) is a rare disorder that occurs when mast cells, a type of white blood cell found in connective tissues, accumulate throughout the body. When these cells become activated, they release tryptase, which causes symptoms that are similar to an allergic reaction—flushing, itching, hives, abdominal pain, and nausea. Nonadvanced SM is an early form of disease that hasn’t progressed to organ damage but has a significant impact on patients’ quality of life.
ARUP Laboratories has one of the largest groups of hematopathologists in the country who can lend their specialized expertise to interpret results.
“We have nationally and internationally recognized experts in mast cell disease who have seen hundreds, and in some cases thousands, of biopsies from mast cell patients throughout their careers,” Patel said.
As a leading academic reference laboratory, ARUP offers highly specialized tests for the detection of biomarkers related to mast cell disease. One of these tests, KIT(D816V) Mutation by ddPCR, Quantitative (3002956), identifies a mutation common in patients with SM and aids in diagnosis as well as disease monitoring. ARUP was the first laboratory to offer an ultrasensitive KIT(D816V) test that could be performed on peripheral blood, which was launched in 2020.
ARUP also offers TPSAB1 Copy Number Analysis by ddPCR (3017399). The presence of certain variants in the TPSAB1 gene leads to elevated serum tryptase levels, which can present similarly to SM and other mast cell disorders.
ARUP is the only laboratory to offer both the KIT(D816V) and TPSAB1 tests.
“As one of a very few laboratories that can offer these highly specialized laboratory tests in-house, we can manage the complex needs of a clinical trial effectively and efficiently,” Patel said.
ARUP’s PharmaDx department ensures a high-quality process for diagnosis confirmation and response assessment that adheres to Good Clinical Practice (GCP) standards, which is crucial for data that will be used to support a new drug application. These standards include additional sample tracking, documentation of chain of custody, and processes to ensure data integrity.
“It’s always amazing to hear when there’s positive results and to know we have helped patients,” said Pennington. “Mastocytosis is relatively rare, but the patient population is very much in need. It makes all the long hours totally worth it.”
Kellie Carrigan, kellie.carrigan@aurplab.com
