|Institution||College of Medicine|
|Address||500 University Drive Hershey PA 17033|
Physician, Professor of Neurology
SECONDARY APPOINTMENT(S)/ INSTITUTE(S)/ CENTER(S):
GRADUATE PROGRAM AFFILIATIONS:
Fellowship, Neuromuscular Diseases, University of Michigan Hospitals & Health Centers (1992)
Residency, Neurology, University of Iowa Hospitals and Clinics (1986)
Internship, Internal Medicine, University of Iowa Hospitals and Clinics (1983)
M.D., University of Florida, College of Medicine (1982)
Clinical Research - ALS
Clinical Trials: We are involved in a clinical trials that change frequently. For updated information, contact our clinical nurse manager at 717-531-0003, ext 289123.
Brain-Computer Interface Technology: Brain-computer interface (BCI) devices have the potential to enhance the quality of life for those living with ALS, and can aid in basic forms of motor control and communication. In collaboration with Dr. Steven Schiff, our research aims to show how the success of BCI deployment is complicated by the high level of disease heterogeneity, and how we can use engineering principles to adapt our systems to optimize BCI use for each user.
Longitudinal Outcomes Research: A new strength measurement device called Accurate Test of Limb Isometric Strength (ATLIS) was developed to precisely and conveniently measure static limb strength in patients with ALS. We will compare ATLIS data with data from two commonly used ALS outcomes measures, the ALS Functional Rating Scale-Revised (ALSFRS-R) and slow vital capacity (SVC) in a prospective, longitudinal study. All three outcome measures will be performed on subjects collected preferably at clinic visits during the study period.
Understanding Falls: We are investigating the characteristics and circumstances of falls in people diagnosed with ALS in order to identify risk factors and prevent injuries from falls.
Understanding Pain in ALS: ALS has generally been considered a painless disorder, but recent studies have shown that pain is a frequently underestimated and under-reported symptom in ALS. We are conducting a study of pain experienced by ALS patients in Pennsylvania to better understand the nature of the pain and how it is currently treated. We will simultaneously survey ALS physicians in the U.S. and Canada on their experiences with pain management in the ALS population. From this study, we hope to contribute to the development of better pain management for people living with ALS.
Quality of Life: We have a longstanding interest in quality of life (QOL) in patients with ALS. Our group has developed a QOL questionnaire specific for those with ALS, the ALS-Specific Quality of Life Instrument - Revised, or ALSSQOL-R. The ALS-Specific Quality of Life-Revised (ALSSQOL-R) is available free of charge to those wishing to use it. We welcome collaboration from other ALS centers for projects using this instrument. We are currently working with investigators in US centers and International centers to understand QOL in patients with different cultural and ethnic backgrounds. We have recently constructed a short form of the tool (ALSSQOL-SF) which includes 18 items. We are in the process of validating the ALSSQOL-SF in a multicenter study.
Turning Research into Practice: Evidence-Based Practice is a method of providing clinical care to patients, by systematically incorporating solid research evidence with clinician expertise. This process has inspired several collaborative teams, made up of clinicians and researchers alike. Each group focuses on a particular aspect of patient care, in order to better meet the needs of our patients. Topics include:
• Support for Caregivers
• ALS and Frontotemporal Dementia (FTD)
• Improving End of Life Care and Decision Making
Basic Science Research - ALS
Discovery of a Genetic Risk Factor for ALS: Under the leadership of Dr. James Connor, a potential genetic risk factor for ALS has been identified. Termed the H63D HFE genetic variant, this is a variation of the hemochromatosis gene, a gene involved in iron metabolism, the immune system, and inflammatory responses. Studies now support that the presence of the H63D HFE gene is a four-fold risk factor for ALS.
Developing Innovative Mouse Models of ALS: We have successfully developed a mouse model that expresses the HFE risk factor gene and mated that mouse line with the established ALS mouse model. The resulting mice have a faster and more aggressive disease. This is an exciting breakthrough and will provide opportunities to understand how the risk factor we identified impacts the disease. This also provides a new model in which to test therapeutic strategies under consideration for ALS and hopefully improve the currently poor success rate for drugs that tested well in animal models but failed in human trials.
Understanding Cellular Stress and ALS: Studies to understand the relationship between H63D and cellular stress and between H63D and two other mutations known to be associated with ALS - TDP-43 and SOD1 - are in progress. Human cells that carry the H63D mutation have elevated levels of stress and mitochondrial dysfunction and alterations in glutamate metabolism and increased TDP-43 that are thought to contribute to ALS. These models will help us to understand the impact of the mutations on cell function and how the mutations combine to cause cell death, permitting the development of therapeutic strategies around that knowledge.
Biomarker Research: We have made progress with a novel biomarker-panel based approach to model ALS disease prognosis. We found that several important biomarkers involved in inflammation, iron metabolism, and immune responses may predict ALS disease course. Because current methods to predict prognosis are limited, these results have direct impact on clinical management and trials of novel therapies. We are currently establishing a repository of samples to be used for biomarker research.
Personalized Medicine: Since the creation of Penn State Hershey's new Institute for Personalized Medicine, this game-changing medical model is driving opportunities for greater collaborations across the institution to advance medical science. In collaboration with Drs. James Broach and Glenn Gerhard, and with patient and family member consent, blood and saliva samples will be taken and used to conduct highly sophisticated genetic sequencing. The process will identify known or new genetic mutations that are associated with ALS.
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