The National Institutes of Health (NIH) granted almost $7.2 million to the Inherited Neuropathy Consortium (INC) to further support its work improving care and clinical research on Charcot-Marie-Tooth disease (CMT) for an additional period of five years.
This is the second competitive grant renewal awarded to the INC, representing NIH’s support through 15 years of study.
Led by Michael Shy, MD, a neurologist at the University of Iowa, the INC was designed to foster collaborative work among clinical investigators to shed light on the characteristic features of different forms of CMT. The consortium also supports the development of new diagnostic and treatment strategies for this disease.
To date, the INC has conducted natural history studies, created and tested new outcome tools in adults and children with CMT, and has evaluated the potential of new biomarkers of the disease. The consortium also is focused on raising awareness for CMT by sharing useful information with patients and their families, while also providing support and resources to young investigators committed to a career investigating CMT.
“The grant’s funding means that Iowa will remain at the forefront of research in the field of inherited peripheral neuropathies [CMT],” Shy, also the director of the CMT Clinic at University of Iowa Hospitals and Clinics, said in a press release.
Besides natural history studies and research on biomarkers and clinical outcome measures, the grant also enables ongoing work “to identify novel genetic causes of CMT and continue to train the next generation of young investigators in our field,” Shy said. Clinical trials and new standards of care for people with CMT also are among the team’s goals.
Among the sites involved in the INC are Wayne State University, University of Pennsylvania, Children’s Hospital of Philadelphia, and the University of Rochester, all in the U.S., and the National Hospital of Neurology and Neurosurgery and Dubowitz Neuromuscular Centre, both in London, U.K.
The grant was awarded under the Rare Diseases Clinical Research Network (RDCRN) program of the NIH, a group of 20 teams of scientists and clinicians, patients and families, and patient advocates, all studying rare diseases.
The RDCRN is supported by multiple NIH institutes and centers, and is led by NIH’s National Center for Advancing Translational Sciences (NCATS) and the NCATS Office of Rare Diseases Research.
NCATS scientists note that, of an estimated 7,000 known rare diseases, “only a fraction — maybe 5% — have U.S. Food and Drug Administration-approved treatments.” There currently is no cure for CMT and no medical treatment that can improve the symptoms of muscle weakness and muscle loss.
“Over the years, RDCRN scientists have partnered with patients and advocates to develop new insights into the causes and progression of – and potential therapies for – rare diseases that were simply not receiving the attention they deserved,” Christopher Austin, MD, director of NCATS, said in a separate press release.
“Their pioneering work in discerning underlying clinical differences and commonalities in hundreds of rare conditions has already changed the rare disease landscape in immeasurable ways,” he added.