New Hope for Hereditary Kidney Cancer: PHASE ONE Funds Pioneering Study for HLRCC
PHASE ONE Foundation has awarded a $200,000 Medical Grant to Dr. Brian Shuch, Director of the Kidney Cancer Program and the Alvin & Carrie Meinhardt Endowed Chair in Kidney Cancer Research at UCLA, to support a Phase I study investigating a new treatment for Hereditary Leiomyomatosis and Renal Cell Carcinoma (HLRCC), a rare genetic condition that leads to kidney cancer and various debilitating symptoms.
HLRCC is the most common hereditary kidney cancer syndrome, affecting approximately 1 in 2,000 individuals.
This condition can result in painful skin lesions, debilitating uterine fibroids, adrenal tumors, and aggressive kidney cancer, typically diagnosed in people during their 20s to 40s. Approximately 10-16% of those with HLRCC will develop kidney cancer, underscoring the urgent need for effective treatment methods.
Current therapies, including immunotherapy and chemotherapy, have shown limited success for HLRCC patients, leading to rapid disease progression and significantly reduced survival rates.
Recent research by the UCLA Kidney Cancer Research Program has uncovered a crucial weakness in HLRCC kidney cancer: this cancer type cannot produce an essential DNA building block called purines through normal processes. Instead, these cancer cells rely on a backup system, known as the purine salvage pathway, to gather the necessary components for growth and replication.
Fortunately, there are already FDA-approved drugs, such as 6-mercaptopurine (6-MP) and Azathioprine (AZA), that effectively block this pathway. Pre-clinical tests in HLRCC models show these drugs to be highly effective at killing cancer cells in both lab and animal studies.
Building on these findings, Dr. Shuch will investigate the use of 6-MP for HLRCC. With these medications already being FDA-approved, generic, and affordable, their repurposing could provide a fast-track route to a promising new treatment option for patients. Given their established safety profiles, these drugs could potentially move more swiftly through regulatory processes, making them available as part of approved treatment regimens in a much shorter timeframe.
"The partnership between PHASE ONE and UCLA Urology reflects our shared commitment to advancing innovative cancer research that transforms lives. Support from PHASE ONE enables physician-scientists like Dr. Shuch to push the boundaries of discovery and bring new possibilities to patients facing challenging diagnoses.” –Mark S. Litwin, MD, Chair of UCLA Department of Urology
The Phase I trial will assess the safety of 6-MP while evaluating its efficacy, aiming to establish not only the drug's potential to combat this aggressive cancer but also to identify valuable biomarkers that can assist clinicians in monitoring treatment response through blood analysis.
“We are thrilled to support Dr. Shuch’s groundbreaking work that could potentially shift the paradigm of treatment for hereditary kidney cancer and lead to meaningful improvements in the lives of those affected by HLRCC.” –Dr. Amanda Salvado, PHASE ONE Granting Co-Chair.
If successful, this trial could significantly enhance treatment options for HLRCC, offering new hope to patients and their families. The ability of 6-MP to effectively disrupt cancer growth may improve survival rates and quality of life for those battling this rare condition. This study aligns seamlessly with PHASE ONE’s mission of supporting innovative cancer research and ensuring that groundbreaking treatments are accessible to those in need.