Grant Boosts Drive to Transform Treatment Landscape for Rare Neurological Disorders

Aug. 28, 2023

The University of Rochester Medical Center (URMC) is extending its participation in a national network of academic medical centers tasked to create the resources and scale necessary to conduct clinical trials for rare neurological diseases.  The new funding will focus on projects aimed to accelerate the study and approval of a growing wave of gene therapies that are already revolutionizing care, increase diversity in clinical trial participation, and train the next generation of clinical researchers.

In 2011, URMC was one of the original institutions selected to participate in National Institute of Neurological Disorders and Stroke (NINDS) Network for Excellence in Neuroscience Clinical Trials (NeuroNEXT), and the new award will bring URMC’s total federal funding for the program to $5.7 million.  Robert Holloway, MD, MPH, the chair of the Department of Neurology, is the principal investigator of the Rochester site, which is named UR-NEXT.  Emma Ciafaloni, MD, Jennifer Vermillion, MD, and Charles White serve as UR-NEXT co-investigators and Christine Annis is the program coordinator.

The grant arrives as the field is undergoing a transformation, as new gene therapies that address the underlying genetic mechanisms of the disease could offer treatments for a wide range of rare and more common neurological and neuropsychiatric diseases.  URMC researchers are poised to help accelerate the development of these drugs by overcoming the recruitment and retention barriers associated with rare diseases and measuring the impact of treatments based on outcomes that are important to patients and their families.

The Department of Neurology and its faculty were among the earliest to understand the challenges of rare and ultra-rare disease research. This focus positions URMC to be early leaders in gene therapy trials across several disease areas.  In addition, URMC researchers have decades of experience and are leaders in clinical trials for neurological disorders, and the Medical Center is home to several important programs in the field, including:

  • The Department of Neurology’s NINDS T32 Postdoctoral Training Program in Experimental Therapeutics has served as a successful training ground and been continuously funded for the past 32 years.
  • The Center for Health + Technology (CHeT) and Clinical Trials Coordination Center has managed more than 100 multi-center clinical research studies with over 45 sponsors, and participated in the development of nine FDA-approved compounds. CHeT researchers are leaders in harnessing digital tools to allow volunteers to participate in clinical trials remotely and the development of patient-reported outcome measures, particularly for rare diseases.
  • In 2020, the UR became one of 16 National Institute of Child Health and Human Development-designated Intellectual and Developmental Disabilities Research Center. This award recognized URMC’s capacity to provide national leadership in translational research and clinical trial development programs related to conditions like Batten disease, Rett syndrome, and Autism.
  • The Department of Neurology has played a leading role in clinical research involving gene therapies for Batten disease, and neuromuscular diseases including spinal muscular atrophy, Duchenne muscular dystrophy, and myotonic dystrophy.  The Medical Center is also home to three NINDS-funded Clinical Trial Readiness projects for facioscapulohumeral dystrophy, inherited neuropathies, and Batten’s disease, and several patient registries for rare diseases.

The new funding will also enable the URMC team to continue its outreach efforts in the Rochester and rare disease communities to build trust and empowerment, and create a clinical trial recruitment approach that reflects the priorities of the population studied.  In 2019, the Department of Neurology hired White, a community engagement specialist, to support these and other efforts aimed at building local partnerships to improve care, wellness, and education.