Penn State Hershey ALS Clinic and Research Center
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:
- Clinical trials of medications that show promise for treating ALS.
- Clinical research to improve care and support of patients and their caregivers.
- 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
Basic Science Research Faculty
Zachary Simmons, MD
Professor, Departments of Neurology and Humanities
Director, Neuromuscular Program and ALS Center
James Connor, PhD
University Distinguished Professor
Vice-Chair, Department of Neurosurgery
Divisha Raheja, MD
Assistant Professor, Department of Neurology
Associate Director, ALS Center
James Broach, PhD
Chairman, Biochemistry and Molecular
Biology Director, Institute for Personalized Medicine
Stephen Schiff, MD, PhD
Brush Chair Professor of Engineering
Professor, Department of Neurosurgery
Andrew Geronimo, PhD
Instructor, Department of Neurosurgery
Stephanie Felgoise, PhD
Professor and Vice-Chair, Department of Psychology
Philadelphia College of Osteopathic Medicine
Susan Walsh, RN, MSN, ACNS-BC
Regional Nurse Manager
ALS Association Greater Philadelphia Chapter
Anne Morris, MPH
Neuromuscular Research Project Manager
If you are interested in learning about our research, please contact our research manager, Anne Morris at 717-531-0003, ext. 289123.
Tocilizumab is FDA approved for treatment of refractory moderate to severe rheumatoid arthritis. It is delivered by intravenous infusion monthly. Our clinic is participating in a multicenter, randomized, double-blind, placebo-controlled 16-week study evaluating the safety and tolerability of tocilizumab in subjects with sporadic ALS.
Tirasemtiv (formerly CK-2017357)
Tirasemtiv is intended to improve skeletal muscle function in disease states associated with muscular weakness or fatigue, including ALS, without affecting the structure of muscle itself. Our clinic is participating in a multi-national, double-blind, randomized, placebo-controlled study with tirasemtiv in patients with ALS. Both patients who are currently taking riluzole and those who are not will be enrolled in the study. The primary objective is to assess the effect of tirasemtiv versus placebo on respiratory function in patients with ALS.
Tongue Movement in Adults with Motor Speech Disorders
This study is directed by Dr. Jimin Lee, Assistant Professor of Communication Sciences & Disorders at Penn State. The goal is to identify key tongue movements that can increase listeners' understanding of speech production. To trace the movement, sensors will be attached on the lower lip, jaw, tongue, and forehead. You will be asked to produce multiple words and sentences at different speaking rates and loudness. Study visits can take place in Hershey, University Park, or in your home, depending on location.
Motor Synergies in Neurological Disorders
The main purpose of this study is to examine changes in motor synergies that accompany common neurological disorders such as Parkinson's disease, amyotrophic lateral sclerosis, stroke, olivo-ponto-cerebellar atrophy, essential tremor, and multiple sclerosis. Patients and control subjects will be asked to perform simple motor tasks such as pressing, manipulating a hand-held object, reaching, standing quietly, swaying, and initiating a step. Analysis of multi-digit, multi-joint, and multi-muscle synergies will be performed using the framework of the uncontrolled manifold hypothesis.
An Online Mindfulness Intervention for People with ALS and their Caregivers
The primary aim of this project is to create and test an online psychological treatment program based on the Langer Mindfulness construct, targeted to improve the quality of life (QOL) for people with Amyotrophic Lateral Sclerosis (ALS) and their caregivers.
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 and Dr. Andrew Geronimo, 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.
The Edinburgh Cognitive and Behavioral ALS Screen (ECAS)
The ECAS is a brief cognitive-behavioral assessment developed and validated by Dr. Sharon Abrahams and colleagues at the University of Edinburgh for use in the ALS patient population. To date, however, the usefulness of the ECAS as a clinical tool, particularly within the setting of a multidisciplinary ALS clinic, has not yet been widely studied or evaluated. As a result, the ECAS has been adopted as a standard of care for patients seen in our clinic in an effort to study and better understand how this assessment may help patients, families, and health care professionals.
Outcomes of Diaphragm Pacing System Placement in ALS
Diaphragm pacing (DP) is an FDA approved treatment for hypoventilation in ALS and appears to be reasonably safe in carefully selected patients. We have received Humanitarian Use Device IRB approval for the placement of DP devices in patients with ALS meeting inclusion requirements for DP. Our hospital has been implanting DP devices in patients with ALS since January 2014. The objectives of our research are to examine how the clinical markers of breathing capacity and function over time predict survival in ALS patients who have had a DP device implanted at the Hershey Medical Center and to evaluate the outcomes of ALS patients who receive the diaphragmatic pacer at our institution.
Decomposition-Based Quantitative Electromyography (DQEMG)
The goal of this study is to determine if the qualitative use of the quantitative data provided by DQEMG facilitates, clarifies, or modifies clinical impressions obtained using standard needle EMG methods. This if proven, would aid the physicians in clarifying the clinical impression and would decrease the time to diagnosis leading to better patient care. Participants will be asked to have an EMG test with Dr. Divisha Raheja.
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 have recently constructed a short form of the tool (ALSSQOL-20) which includes 20 items. The ALSSQOL-20 was recently validated in a multicenter study. View and download the ALSSQOL-20 tool here. A manual will be available soon.
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. 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.
- Support for Caregivers [Download our ALS Caregiver Assessment]
- ALS and Frontotemporal Dementia (FTD)
- Improving End of Life Care and Decision Making (Download the Communication and Treatment Preference Tool)
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.
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.
Genetics of ALS and other Motor Neuron Diseases
Since the creation of Penn State Hershey's 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 Dr. James Broach, and with patient and family member consent, blood and/or 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.