Translating Science into Action: New Treatments for Scleroderma

“You can’t do it all by yourself,” said Tracy Frech, M.D., M.S., assistant professor in internal medicine. As part of her early career training in clinical research, Frech began treating patients with scleroderma, an autoimmune disease that involves the hardening and tightening of the skin and connective tissues. 

Frech recalls one incident when she was treating a patient, who happened to be a new mother, with terribly swollen hands. Frech, a new mother herself, could not imagine caring for a young child with such impaired hands. This interaction along with guidance through the KL2 scholar program, which develops support for clinical junior investigators through the Center for Clinical and Translational Science (CCTS), shaped the path of her future work. 

As she began to treat her patients, Frech realized that little was known about the cause of this disease and even fewer treatments and therapies were available. She turned to the CCTS program to identify experts to collaborate on her research. Frech coordinated with professor of internal medicine Dean Li, M.D., Ph.D., and colleagues to understand the complications of vascular leak, which can lead to the thickening and scarring of connective tissues. In addition, she collaborated with the lab of Anthony Donato, Ph.D., an associate professor of internal medicine, to understand the complications associated with vascular leak.  

Frech elevated her research by reaching out to scleroderma centers across the country. At an inaugural meeting at the University of Utah, the group standardized physical exam skills to ensure that the clinical phenotyping had value. In addition, the group developed and contributed to the largest database on scleroderma using REDCap, a secure web application for building and managing online surveys and databases developed by CCTS at the U. This work was conducted in collaboration with the CCTS biomedical informatics core, which provides comprehensive clinical and translational research informatics support to researchers.

This national collaboration identified one of the challenges of the diseasethe patients may express the illness in a similar way, but they had different immune system abnormalities. The research team found that one thing the patients had in common was abnormalities in endothelia, cells that line the interior surface of blood vessels.  Frech took this information to the clinical setting and found a noninvasive way to predict which patients were at risk for developing painful ulcers on the fingers by inducing ischemia (reduced blood supply) using a blood pressure cuff. In addition, she identified alternate drug therapies to the traditional immunosuppressant therapy. 

Frech credits CCTS for providing mentoring, collaborations, and contributions to her initial and ongoing success.  “The KL2 program was absolutely critical for my research program, and the Personalized Health Care course was instrumental in guiding my clinical care program,” she said. “The CCTS offers expert collaboration to grow a rare disease program, and I am deeply indebted to its experts.”