The Hershey ALS Clinic and Research
We strongly believe that research into the causes of ALS and other motor neuron disease will eventually be the key to more effective treatments and to a cure. We also believe that research can lead to a better understanding of factors contributing to quality of life of individuals with ALS and their families.
With funding from the ALS Association Greater Philadelphia Chapter, the Campbell Fund for ALS Research, Department of Defense, and many other individuals and groups, the Penn State Milton S. Hershey ALS Clinic and Research Center carries out studies at several levels:
1. Clinical trials of medications that show promise for treating ALS.
2. Clinical research to improve care and support of patients and their caregivers.
3. Basic science research involving genetics, biomarkers, oxidative stress, iron metabolism, and other factors believed to be involved in the pathogenesis of ALS.
Clinical Research Faculty:
Zachary Simmons, MD
Professor, Departments of Neurology and Humanities
Director, Neuromuscular Program and ALS Center
Stephen Schiff, MD, PhD
Brush Chair Professor of Engineering
Professor, Department of Neurosurgery
Stephanie Felgoise, PhD
Professor and Vice-Chair, Department of Psychology
Philadelphia College of Osteopathic Medicine
Susan Walsh, RN
Regional Nurse Manager
ALS Association Greater Philadelphia Chapter
Basic Science Research Faculty:
James Connor, PhD
University Distinguished Professor
Vice Chair, Department of Neurosurgery
James Broach, PhD
Chairman, Biochemistry and Molecular Biology Director, Institute for Personalized Medicine
Glen Gerhard, MD
Professor, Department of Biochemistry and Molecular Biology
Institute for Personalized Medicine
Tirasemtiv (CK-2017357) is being investigated as a potential new therapy for the improvement of muscle weakness and muscle fatigue in patients with ALS. The purpose of this research study is to evaluate the safety and effectiveness of Tirasemtiv and how well it is tolerated in patients with ALS.
Mexiletine, a sodium channel blocker that has been FDA-approved for the treatment of cardiac arrhythmias and neuropathic pain in diabetic polyneuropathy, has been shown to be neuroprotective, largely by blocking excitotoxicity. This study aims to find out if mexiletine is safe and tolerable and if it will have an effect in people with ALS.
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.
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.. It is documented that up to 70% of ALS patients experience some form of pain during the course of the disease. This pain can be due to musculoskeletal causes, cramps, or spasticity. We are conducting a regional study of pain experienced by ALS patients in Pennsylvania to better understand the nature of the pain and how it is currently treated. 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. (View and download the ALSSQOL-R Manual here). We welcome collaboration from other ALS centers for projects using this instrument. Those interested in such collaboration should contact Dr. Zachary Simmons at firstname.lastname@example.org. We are currently working with investigators in US centers and International centers to understand QOL in patients with different cultural and ethnic backgrounds.
- Support for Caregivers [Download our ALS Caregiver Assessment]
- ALS and Frontotemporal Dementia (FTD)
- Improving End of Life Care.
If you are interested in learning about our clinical research, please contact our research manager, Beth Stephens at 717-531-0003, ext. 283395.
Basic Science Research
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.
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 with identify known or new genetic mutations that are associated with ALS.