Kids Adults Need Victors:
Thanks to research and improved care, Jerry’s kids that we remember from MDA telethons are now surviving into adulthood. However, these adults show a high disease burden in terms of multiple organ dysfunction, pain, fatigue, anxiety, depression, and sleep disorders. They often exhibit variable baseline function, disease progression, and survival, even among those matched by age and mutation. Few trials focus on adults with genetic neuromuscular disease, and it is difficult to demonstrate drug responsiveness in trials when patients have variable rates of functional decline.
We are interested in improving outcomes in genetic neuromuscular disorders. Our current research focuses on the development and validation of patient-reported and clinical outcome measures for research trials, and identifying socio-economic barriers and disease burden impact in order to improve the longitudinal health outcomes and quality of life in patients with chronic neuromuscular diseases.
1. Development and Validation of Outcome Measures
We assess patients longitudinally and use qualitative and quantitative (Mixed) methods to develop and validate novel, disease-specific clinical and patient-reported outcome measures of disability, clinical function, and quality of life, for use in clinical research trials for genetic neuromuscular disorders such as Charcot-Marie-Tooth disease, Duchenne Muscular Dystrophy, and Spinal Muscular Atrophy.
2. Standardization of Care Delivery
Thanks to improvements in healthcare, children with complex health care needs are now surviving into adulthood and need adult care. The lack of coordinated transitioning from pediatric to adult clinics has been associated with poor health outcomes, increased hospitalizations and more complications. We have developed a novel EHR-based Transition Program that leverages existing electronic health record systems and promotes patient-provider engagement. We are currently assessing its utility to teach skills in self-management of chronic disease, improve awareness of standardized care recommendations, and improve longitudinal health outcomes and reduce phenotypic variability in patients with complex health care needs.
3. Clinical Trials
We have several on-going clinical trials in CMT, SMA, Duchenne Muscular Dystrophy, idiopathic neuropathy, and chemotherapy-induced neuropathy. Please call our Study Coordinator for more information on our studies: 734-647-9224.
Within UMHS we have partnered with the Institute for Health Care Policy and Innovation (IHPI) and the NIH-funded Center for Complexity and Self-management of Chronic Disease (CSCD). We work closely with national patient advocacy groups such as the Muscular Dystrophy Association (MDA), and Parent Project Muscular Dystrophy (PPMD). Our research collaborators include leading neuromuscular specialists, including members of the Muscle Study Group and the Inherited Neuropathy Consortium, and colleagues at the University of Iowa, University of Rochester, Children’s Hospital of Philadelphia, University College London, and the University of Sydney.