September 8, 2021
Goal is to gain insights from unique patient registry data to enhance diagnosis and treatment of this degenerative nerve disease
The Hereditary Neuropathy Center at the Neuroscience Institute at Hackensack University Medical Center, part of the Hackensack Meridian Health Network, has been awarded a research grant from the University of Pennsylvania Orphan Disease Center in partnership with the Hereditary Neuropathy Foundation to analyze data from a unique patient registry in an effort to help better diagnose and treat Charcot-Marie-Tooth (CMT) neuropathies and to inform future clinical research focused on the condition.
Hackensack University Medical Center is ranked the #1 hospital in New Jersey and the #7 hospital in the New York metro area by U.S. News & World Report’s 2021-2022 “Best Hospitals” Honor Roll with New Jersey’s only nationally-ranked Neurology & Neurosurgery programs – which have also been ranked New Jersey’s Best Neurology & Neurosurgery programs since 2013.
The $55,000 grant will fund a project, “Global Registry for Inherited Neuropathies (GRIN) – Natural History Study Data Assessment of Charcot-Marie-Tooth Patients to Support Virtual Clinical Studies.” This research is a retrospective analysis of the GRIN patient registry, a collection of over 3,000 de-identified patient profiles that include disease progression and genetic characteristics in a given individual as well as the cumulative consequences of the disease such as disability, social aspects and cost. The Hereditary Neuropathy Foundation launched GRIN in 2013. GRIN is a COVID-compatible network that allows patients to report and continuously update data without an in-person visit.
This research is being led by Florian Thomas, M.D., Ph.D., Professor and Chair of the Neuroscience Institute and the Department of Neurology at Hackensack University Medical Center and Hackensack Meridian School of Medicine. Dr. Thomas is an international leader in the treatment of CMT disease, and he has more than 30 years of both clinical and research experience with patients diagnosed with CMT.
CMT is a hereditary, degenerative condition that causes damage to nerves that transmit signals from the brain and spinal cord to and from the rest of the body. It causes loss of sensation in the arms, hands, feet and legs and progressive weakness. It is one of the most common inherited neurological disorders, affecting one in 2,500 people or about 130,000 people in the US and 2.6 million people worldwide. Muscle weakness typically becomes noticeable in adolescence or early adulthood, but may be noticed later. Symptoms usually begin in the feet and lower legs and then can affect the fingers, hands and arms. Most people with CMT have some form of physical disability. Orthotics, leg braces, pain medicines and foot and ankle surgery are used to treat the disease, which is known to have a negative effect on quality of life for patients and care partners. While there are no FDA-approved treatments for CMT, Dr. Thomas has led the two first Phase II & III clinical trials of pharmaceutical agents to treat CMT Disease in the US since 2015 and just started enrolling patients in a third study
Dr. Thomas said that the real-world, evidence-based study of patient-reported data is important to help clinicians better understand the impact of CMT on quality of life, disability, social adjustment and ability to work and to capture the patients’ journeys for earlier diagnosis, improved patient care and to address comorbidities that may be associated with CMT. “Equally important is the fact that GRIN provides a way for us to identify knowledge gaps to support drug developers with data to complement clinical data that will help to ensure well thought-out clinical trial designs and protocols,” he added.
“When we established GRIN, our goal was to gain insights about individual experiences of CMT patients to help better understand CMT and support the research community and industry in their efforts to design and conduct clinical trials for potential new therapies,” said Allison Moore, Founder and CEO of the Hereditary Neuropathy Foundation and a longstanding collaborator of Dr. Thomas. “In partnership with the University of Pennsylvania Orphan Disease Center, we are pleased to fund the important work that the Neuroscience Institute at Hackensack University Medical Center will do to analyze the data. We think this project has great potential to grow the CMT knowledge base, leading to more potential research and advances in treatment.”
“We are very grateful to U Penn and the Hereditary Neuropathy Foundation for the grant and the confidence in our expertise to analyze this data set,” said Dr. Thomas. “Our goals are to uncover previously unknown correlations between genotypes and phenotypes among patients with CMT and to determine if there are additional early signs of CMT that should be targets for further research and therapeutic development, and to assess the age of diagnosis relative to the age of symptom onset.”
“The information in the GRIN database has the potential to provide deep insights about the disease and the patients who suffer from it,” said Dr. Thomas. “These include progression over time symptom severity, frequency of specific genetic mutations; methods of symptom treatments; and patients’ risk-benefit assessment when considering an intervention.”