Impact Report Fiscal Year 2023
HOPE. CARE. CURE. Amyotrophic lateral sclerosis (ALS) is a complex disorder affecting patients in a myriad of ways and challenging researchers to decipher its origins and develop treatments that meaningfully benefit patients. At the University of Miami ALS Center, we provide comprehensive care to patients with ALS, train the next generation of clinicians and researchers, and are dedicated to advancing scientific understanding of the disease and developing strategies that yield therapeutic success. Our groundbreaking research is highly translational and seamlessly integrated into paradigms of clinical care. Through research participation and scientific advances, we bring hope for a cure to our patient community. One of the most important therapeutic advances in recent years has been the finding that antisense oligonucleotides (ASOs), a type of gene therapy, may be effective for patients with a rare genetic form of ALS. Central to the FDA's approval of this therapy was the observation that the concentration of neurofilament light (NfL), a biomarker of nerve injury, decreases in response to treatment with the ASO. This observation highlights the potential utility of NfL in ALS therapeutic development. Our work readying NfL for use in clinical trials for patients with ALS has been critical to this endeavor. In addition, we have spearheaded the use of NfL as a biomarker in gene mutation carriers at risk for ALS, an essential catalyst for the first-ever pre-symptomatic clinical trial – thereby ushering in an exciting new era of ALS prevention. These are but a few examples of the pioneering research taking place at the University of Miami ALS Center. Our work would not be possible without the active engagement of our patients and their family members. We deeply appreciate their willingness to participate in research. This, together with support from funding agencies and private philanthropy, is propelling us toward a future with more effective therapies for patients with ALS, and perhaps even the tools to prevent ALS. Parallel to these research activities is our mission to provide comprehensive multidisciplinary care to patients with ALS. We are supported in this endeavor by critical partnerships with the Muscular Dystrophy Association (MDA), the ALS Recovery Fund, the ALS Association (ALSA), and the Bitner-Plante Initiative, through which we receive state support for ALS patient care in Florida. I am incredibly proud of the important accomplishments of the ALS Center clinic and research teams. We are an international leader in the study and treatment of ALS, owing in large part to the generosity and philanthropic support of donors and the community. You are the driving force enabling us to transform how we study and treat ALS. Thank you for being our partners on this path to finding a cure and to changing the lives of patients, family members, caregivers, and communities impacted by ALS. Sincerely,
DELIVERING PERSONALIZED AND COMPASSIONATE CARE At the Kessenich Family ALS Clinic at the University of Miami, we provide the highest level of compassionate and multi-specialty care for ALS patients and their families throughout the course of disease. patients; and together, they help patients and their families address different aspects of the disease. With a care plan in place, patients return to the Multidisciplinary Clinic every 3-4 months to see their entire care team. We coordinate our services to manage the evolving needs of our patients throughout the progression of disease. These clinic visits take 3-4 hours, enabling our patients to see all their providers in a coordinated and efficient manner. Rather than moving from room to room, each patient stays in an examination room, with the providers rotating through for their appointments. Every patient also meets with a member of the research team to learn about research opportunities, both locally and nationally. The care team then meets at the end of the clinic to develop a comprehensive and integrated plan that is customized to the needs of each individual patient. Following each clinic visit, we work together as a healthcare team to procure necessary medical devices and obtain insurance approvals for prescribed medications. Our Advanced Practice Director also assists with needs that arise between clinic visits. Most patients who are diagnosed with ALS have traveled a long medical journey since the onset of their symptoms. By the time they are referred to and seek care at the ALS Center at the University of Miami, they have often struggled through the healthcare system, seen various specialists, and undergone multiple tests. We are sensitive to the patient's experience and the arduous process that they have been through. This is why we see newly referred patients as quickly as possible to expedite diagnosis and initiate a plan of care. Even for patients aware that they might have ALS, receiving the diagnosis is devastating. The shock of the news leaves people unready to engage in immediate discussions about next steps. Therefore, we take the time to console and provide emotional support. Newly diagnosed patients are then encouraged to return in one to two weeks to attend our innovative Second Visit Clinic, where we focus on initiating a plan of care, discuss opportunities for research participation, and continue to provide emotional and psychosocial support. This process provides newly diagnosed patients time to gather their thoughts and questions between diagnosis and Second Visit Clinic, and affords them the opportunity to discuss with family and friends before taking the next steps in their medical care. The Second Visit Clinic is also a helpful stepping-stone toward the comprehensive clinical care provided through our ALS Multidisciplinary Clinic – a convenient, coordinated one-stop service for our patients’ care needs. The Multidisciplinary Clinic Team comprises neurologists, physical and occupational therapists, speech and respiratory therapists, clinical psychologists, dietitians, social workers, and nursing care managers. Each of them has an important role in the care of ALS
The ALS Center is home to two specialty clinics: the Augmentative and Alternative Communication (ACC) Clinic and the Wheelchair Clinic. The ACC Clinic focuses on supporting patients as they confront losing their ability to communicate. To provide optimal communication support to our patients, we evaluate their speech and offer various communication tools. We also provide voice banking services. Our Wheelchair Clinic supports patients who have impaired mobility. Providers work with patients to evaluate their needs and tailor the chair to the patient.
BRINGING HOPE THROUGH RESEARCH ALS remains an inexorably progressive disease, despite the best available treatments to date. Research is the only way to change this and to bring hope to the future. The cutting-edge research ongoing at the ALS Center focuses not only on therapy development but, importantly, also ALS prevention. fALS we have developed methods for studying pre-symptomatic disease; published guidelines for pre-symptomatic genetic testing and counseling; identified neurofilament light chain (NfL) as the first biomarker of pre-symptomatic disease; and, importantly, in collaboration with an industry partner, designed and launched ATLAS, the first-ever ALS prevention trial. In addition, we have identified mild motor impairment (MMI) as a prodromal clinical syndrome, which we believe will be critical to future efforts to study and identify pre-symptomatic ALS, not only among mutation carriers, but also in the general population – thereby enabling earlier diagnosis and therapeutic intervention for all patients with or at risk for ALS.
Research is essential to forging a better understanding of ALS and developing meaningfully effective therapies. Our innovative and highly collaborative clinicaltranslational research program, led by Dr. Michael Benatar and Joanne Wuu, is centered on our patients. The collaborative nature of our work is motivated by the complexity of ALS, which requires diverse expertise to make scientific breakthroughs. Importantly, we believe that every patient who seeks medical care at the ALS Center should be afforded the opportunity, if they wish, to participate in research and contribute to the advancement of science. We also know from firsthand experience that patients, understandably, acquire a sense of hope and empowerment through their active engagement and participation in research. With the overarching goal of advancing ALS therapy development, we have investigated a broad range of research topics. Pairing phenotypic data with genetic and environmental exposure data, for example, provides us with unparalleled opportunities to identify causes and modifiers of this disease. We have also pioneered novel approaches to phenotypic characterization and led efforts to discover and validate biomarkers in both symptomatic and presymptomatic ALS. Progress in these areas enables us to design more efficient clinical trials with a greater likelihood of identifying effective treatments.
In addition, we lead the international, multi-center CReATe (Clinical Research in ALS and Related Disorders for Therapeutic Development) Consortium, a member of the National Institutes of Health (NIH)-funded Rare Disease Clinical Research Network. Through CReATe, established in 2014, we are engaged in a wide range of collaborative research activities centered around “clinical trial readiness.” This entails addressing and overcoming traditional barriers to the design and implementation of clinical trials - to ensure that future trials are most likely to yield therapeutic success. Examples of current CReATe activities include, among others: supporting the discovery and validation of novel biomarkers; developing tools to empower use of electronic health record data for research purposes; advancing our understanding of the clinical and biological overlap between ALS and frontotemporal dementia (FTD); and exploring the role of both genetic and environmental factors in ALS.
Pre-fALS (Pre-Symptomatic Familial ALS) is one of our flagship studies. Initiated in 2007, Pre-fALS is a natural history and biomarker study focused on the earliest stages of the disease. One of the main goals that we have been working toward is to be able to predict who is likely to develop ALS and when, so that we may devise strategies for early intervention and even prevention. To this end, through Pre-
Clinical trials are another important component of our work. To this end, we have designed and led phase 2 and 3 trials, in addition to the aforementioned ATLAS trial. We also participate in industry- and NIH-funded multi-center trials, including the ongoing Healey Platform Trial, which involves testing multiple treatments in parallel to accelerate the path to identifying potential new therapies.
COMMUNITY ENGAGEMENT AND TRAINING THE NEXT GENERATION The ALS Center serves our local community in South Florida and beyond. Outreach initiatives strengthen our connections with patients and families, and our impact is sustained through training the next generation of clinicians and researchers. The educational mission at the ALS Center is two-fold: (1) Ensuring that our patient community is informed about best practices for clinical care, scientific progress, and research opportunities; (2) Training the next generation of clinicians and scientists, including medical students, neurology residents, neuromuscular clinical fellows, post-doctoral research fellows, and junior faculty at the University of Miami and beyond. Our annual ALS Patient Symposium is timed to follow the annual International Symposium on ALS/Motor Neuron Disease (MND), which brings together health care providers and scientists from around the world working in the field of ALS. Now in its 25th year, our Patient Symposium was motivated by the desire to share the latest clinical practice and scientific discoveries presented at the International Symposium, with our local South Florida patient community. Our patient community is also hungry to learn about research progress more frequently than once a year. To meet this need, we established the popular CReATe Podcasts program, which includes 2 series. The CReATe Author Series are interviews with the authors of recent scientific publications. The ALS Untangled Series features Dr. Richard Bedlack’s ALS Untangled program, which explores issues around the use of alternative and off-label treatments for ALS. These podcasts are tailored to present information in a way that is accessible to patients and their families. Through the CReATe Consortium, and in partnership with the American Brain Foundation (ABF) and the American Academy of Neurology (AAN), we have established a Clinical Research Training Scholarship in ALS and Related Disorders. This award supports young investigators engaged in clinical research focused on ALS, primary lateral sclerosis (PLS), progressive muscular atrophy (PMA), and multisystem proteinopathy (MSP), as well as the overlap between ALS and frontotemporal dementia (FTD), a related neurodegenerative disorder. By prioritizing the education of future physicians and scientists, offering specialized training programs, and supporting young investigators, we ensure a continuous cycle of growth and progress in clinical care and research. Through our active engagement with the patient community and outreach initiatives, we strengthen the connections with those we serve and facilitate informed decisions for patients living with ALS. In every facet of our work, education remains a cornerstone, driving our pursuit of excellence and a hopeful future for those impacted by ALS.
To view the CReATe Podcasts, visit: https://create.rarediseasesnetwork.org/resources/patients-families/create-podcasts
All of this would not be possible without the generosity of donors like you. Thank you for your partnership and ongoing support as we strive to find a cure and continue to change the lives of everyone impacted by ALS.
Learn more about The ALS Center at the University of Miami at www.miami-als.org.
Lena Koorse Senior Director of Development Medical Development and Alumni Relations University of Miami Leonard M. Miller School of Medicine 1120 NW 14th Street, 9th Floor, Miami, FL 33101 Office - 305.243.3037 l.koorse@med.miami.edu