In the NEWS: A ROUNDUP OF NEWS AND INFORMATION FROM OUR COMMUNITY

Abstract

The National Institutes of Health (NIH) has broad-ened its network of medical centers to probe the mysteries of rare diseases. Each center will receive a 4-year $7.2 million grant from the NIH Common Fund to support research into effective approaches to diagnose rare health conditions. The selected sites include medical centers affiliated with the Baylor College of Medicine in Houston; the Boston Children's Hospital, Brigham and Women's -Hospital, and -Massachusetts General Hospital, all in -Boston; Duke University in Durham, North Carolina; Stanford -University in Stanford, California; the University of -California, Los Angeles (UCLA); and Vanderbilt University Medical -Center in Nashville. The funding will enable the medical centers to see patients with uncommon, underreported, undiagnosed, or atypical forms of more common diseases. Patients will be brought to a participating site for a week to consult with specialists and undergo clinical evaluation and medical tests, including genome sequencing to identify specific mutations. “It's a complex endeavor—trying to solve these puzzles that have been lingering for years and years,” says Eric Vilain, MD, PhD, chief of the UCLA intercampus medical genetics program and one of the principal investigators on the grant. “We will be trying to identify specific environmental influences that would be consistent with some of the symptoms patients are having.” For its part, UCLA's medical genetics program lends specific expertise to the endeavor. Its clinical genomics center enables investigators to use blood samples from both patients and their parents to simultaneously search 37 million base pairs in 20,000 genes to help pinpoint the single DNA exchange responsible for causing a patient's disease. Research using blood samples from patients with rare diseases and their parents may help scientists uncover genetic links to uncommon disorders. Adrug candidate that targets sickle cell disease is the first therapeutic developed through the Therapeutics for Rare and Neglected Diseases (TRND) program of the National Center for Advancing Translational Sciences (NCATS) to be acquired by a biopharmaceutical company. The drug, Aes-103, is also the first to target the underlying molecular mechanism of sickle cell disease, a genetic blood disorder that affects millions worldwide and is highly prevalent among African Americans. Acquired by Baxter International Bioscience Inc., the drug will move on to additional clinical development activities required for approval by the U.S. Food and Drug Administration (FDA). Baxter International also recently acquired the biopharmaceutical company AesRx, LLC, based in Newton, Massachusetts, and a TRND program collaborator. AesRx founder and former chief executive officer Steve Seiler says he had spent more than a year trying to secure private funding to advance the molecule, but he was unable to do so because of perceived regulatory risks, according to John McKew, PhD, TRND acting director, of the division of preclinical innovation. “It became one of our pilot projects for which we provided financial and technical support,” Dr. McKew says. “In less than a year, we built an entire IND-enabling data package.” IND stands for an investigational new drug application, which AesRx filed with the FDA. Prior to that, TRND assisted with preclinical toxicology, chemistry, manufacturing controls, and regulatory studies before the drug moved on to Phase 1 and 2 clinical trials. All of the work occurred in less than 3 years, Dr. McKew notes. “This model of collaborative work is a great model,” Dr. McKew says. “It's very different and has more value than the traditional grant that involves handing over a check and asking researchers to solve everything by themselves.” Sickle cell disease, shown above, is a genetic blood disorder that affects millions of people worldwide. A new program centered at the Indiana Clinical and Translational Science Institute (CTSI) seeks to foster collaboration between academic research institutions and the biopharmaceutical industry. Members of the Strategic Pharma-Academic Research Consortium for Translational Medicine—better known as SPARC—include the Indiana CTSI, pharmaceutical companies Eli Lilly and Company and Takeda Pharmaceuticals, the Ohio State University Center for Clinical and Translational Science, Northwestern University Clinical and Translational Sciences Institute, and the Institute of Clinical and Translational Sciences at Washington University in St. Louis. The consortium kicked off in July 2012 when the Indiana CTSI hosted a meeting to discuss potential partnerships among 17 directors of centers funded by the Clinical and Translational Science Awards (CTSA) program, along with university technology transfer offices and industry. “We are trying to create a different model of collaboration between academic institutions and industry so that scientists interested in a particular area can come together in a shared risk model, bringing together their combined knowledge and resources to address specific problems,” says Indiana CTSI director Anantha Shekhar, MD, PhD. Dr. Shekhar says the consortium represents “a total partnership, right from the beginning,” between industry and academia. Researchers from both groups will work together to design the studies, and all data will be publishable rather than proprietary. The consortium first will tackle autoimmune diseases because of partners’ expertise in this area and because few large consortiums focus on these diseases, Dr. Shekhar notes. All of the research must involve humans and not focus solely on animal studies, and projects could range from exploring biomarkers to examining specific biological pathways for disease, he adds. Scientists at the U.S. Food and Drug Administration (FDA) are investigating ways that adult mesenchymal stem cells (MSCs) could help repair, regenerate, or replace damaged cells in the body. The work is being conducted through the FDA's MSC Consortium, founded in 2010 by a team of scientists at 7 labs within the agency's Center for Biologics Evaluation and Research. Scientists are studying 8 distinct cell lines from 8 different adults who donated stem cells from their bone marrow. By better understanding MSCs, they hope to establish a clear regulatory framework in which safe and effective MSC products can be developed. MSCs are stem cells that can differentiate into a variety of cell types, including those that form fat, cartilage, or bone. The conditions under which MSC cells are grown can affect the type of cells they become. Likewise, age or gender of the cell donor may affect the cells’ quality or performance. The consortium will analyze how the safety and effectiveness of MSCs may be affected by these factors. In addition, researchers are exploring how to better identify and characterize MSCs, which they hope will enable them to understand important biological differences between MSCs and other types of cells, decrease variability among MSC products, and make these products easier to develop. Research into the properties of mesenchymal stem cells may further scientists’ understanding of how they differ from other cells in the body. An alliance of Florida-based clinicians and research-ers recently received funding to further its research into cancer and other tobacco-related health problems throughout the state. The OneFlorida Cancer Control Alliance—a group formed within its parent organization, OneFlorida Clinical Research Consortium—was awarded a 3-year $1.6 million grant from the Florida Department of Health's James and Esther King Biomedical Research Program to support its efforts. Key components of the alliance's research include developing a “consent-to-share” registry that requires patients’ permission to circulate their basic demographic information, tissue specimens, and other data among researchers. A data repository of patient information from electronic health records is in the works. The grant also is funding a pilot clinical trial focused on implementing evidence-based tobacco-cessation strategies in 60 urban and rural primary care physician practices that serve patients at high risk for cancer and other health problems. Lastly, the grant will support 3 minority junior faculty members each year to conduct pilot studies through the alliance's network. The OneFlorida Clinical Research Consortium was created in 2013 to conduct research in real-world settings in an effort to ensure that findings ultimately will be adapted into clinical practice. It includes collaborators from the University of Florida (UF), Florida State University and the University of Miami, along with the universities’ affiliated healthcare practices. Researchers and funding from the clinical translational science institutes (CTSIs) at UF and the University of Miami have played key roles in developing the network and its infrastructure, says OneFlorida cochair Elizabeth Shenkman, PhD. Dr. Shenkman, who is also codirector of UF's CTSI implementation science program, calls the network “a beautiful partnership” of more than 22 hospitals, 416 clinics settings, and 3,250 physicians providing care to more than 9 million patients throughout Florida. A clinical trial focused on smoking-cessation strategies is among a host of research initiatives into tobacco-related diseases being funded by the Florida Department of Health.