In the vibrant heart of Puerto Rico, a transformative journey is unfolding—one that intertwines scientific discovery with community empowerment. Through Target ALS’s Global Natural History Study, researchers and healthcare professionals are not just collecting data; they are reshaping the narrative around Amyotrophic Lateral Sclerosis (ALS) for the island’s diverse population.
Bridging the Knowledge Gap
ALS, a complex neurodegenerative disease, manifests differently across populations. Dr. Valerie Wojna and Dr. Brenda Deliz have been diligently working on ALS in Puerto Rico for more than 20 years. Together with Frances Aponte Caraballo, an epidemiologist and data scientist, and their dedicated team at the multidisciplinary ALS clinic, they have observed unique clinical expressions of the disease in Puerto Rico. “We’ve noticed a higher percentage of bulbar onset cases compared to other populations,” Dr. Deliz, a Clinical neurologist at the University of Puerto Rico’s Medical Sciences Campus, noted, highlighting the significance of localized research.
University of Puerto Rico’s Medical Sciences Campus
The Global Natural History Study (GNHS) is pivotal in localized research and uncovering these differences. By prospectively tracking patients’ disease over time and standardizing data collection across patients , researchers can identify genetic variations and disease progression markers unique to Puerto Rican patients. This not only enhances diagnostic accuracy but also informs tailored treatment strategies. The GNHS aims to enroll at least 800 symptomatic ALS participants and 200 healthy controls to create the most comprehensive collection of biofluids for ALS. To date, 192 participants have been enrolled across 14 active global research sites with 17,975 vials of biofluid samples collected.
Dr. Wojna, a Clinical Neurophysiologist at the University of Puerto Rico’s Medical Sciences Campus, is driven by an interest to deeply study the characteristics of their patients and how they are similar and different to other global populations. “We want to be able to understand the pathology that is occurring within the patients, data that will come from the Natural History Study Since not all Hispanics are the same, there is a lot of heterogeneity and it is important to evaluate that,” she explained. Individuals in Colombia, for example, may experience ALS in different ways to Puerto Ricans. You can read more about our GNHS in Colombia here.
In terms of diagnosis, the clinic has reported 25-30 new cases per year in the past two years, with five to ten of those referred for further evaluation as possible ALS cases—most cases in the clinic are in intermediate or advanced stages. Since 2017, and more notably after 2022, there has been an increase in cases. Frances explained that this rise may be partly due to the implementation of various educational interventions that support early detection. Additionally, efforts are underway to expand the patient registry across the island to include individuals who do not attend the multidisciplinary clinic and are followed by their primary physicians, with the goal of reducing the underreporting of cases. It is estimated that approximately 65-70% of ALS cases in Puerto Rico are seen at this specialized clinic—the first and only multidisciplinary ALS clinic on the island.
Frances added, “In terms of ALS mutations, it is very interesting that the saliva-free testing kits that are now widely available, have come back negative for the most commonly identified mutations, even including the familiar cases that we have in our clinic. Currently, we are tracking the family history to see if we can find any pattern.”
Building Infrastructure, Fostering Hope
Just two years ago, the concept of a dedicated ALS clinical trials unit in Puerto Rico was a distant dream. Today, thanks to strategic funding from multiple groups, including Target ALS, and relentless advocacy, it is a thriving reality. “We started with nothing,” recalled Frances – Lead Clinical Coordinator for the Target ALS Global Natural History Study Puerto Rico Site, as she reflected on the rapid transformation. The new facility, equipped with state-of-the-art tools and a team of trained professionals, offers patients more than just medical care—it offers hope. As an epidemiologist from Puerto Rico and a member of the University of Puerto Rico’s Medical Sciences Campus, Frances is committed to multidisciplinary care.
This infrastructure has created a ripple effect, fostering a culture of research participation. Patients, once isolated by limited resources, now have access to cutting-edge clinical trials. This shift is not just about medical advancement; it’s about giving patients a voice and a platform within the global ALS community.
Educating and Engaging the Community
Awareness is the cornerstone of early diagnosis and effective management. The Puerto Rican ALS team has embraced this by launching comprehensive educational initiatives. Their annual ALS symposium, initially designed for patients and families, now includes robust discussions on research and clinical trials. Social media campaigns and the innovative ALS Educational Network engage high school and medical students, cultivating the next generation of neuroscientists and healthcare advocates.
“We have an interest in iterating the community into research, working hand in hand with the community,” Frances said, “If we know what the needs of the community are, then we can provide the services that they need.”
Moreover, the inclusion of ALS patients in community advisory boards ensures that research remains patient-centered. “Listening to our patients is as important as collecting data,” emphasized Frances. This approach has demystified research for many, turning participants into passionate advocates.
Overcoming Barriers to Care
Access to specialized ALS care has historically been a challenge in Puerto Rico. Geographic isolation, insurance hurdles, and limited specialist availability compounded these issues. However, the integrated model adopted by the ALS clinic is changing this narrative. By collaborating with neuromuscular specialists across the island and advocating for systemic changes, the clinic has seen a 43% increase in ALS diagnoses within a year—a testament to improved outreach and patient trust.
Financial barriers are also being addressed. Simple interventions, like transportation reimbursements, have made research participation feasible for more patients. “It’s about removing obstacles, no matter how small,” Dr. Deliz explained.
Data with a Purpose
At the core of this initiative is data—not just numbers, but stories, experiences, and insights that paint a comprehensive picture of ALS in Puerto Rico. The establishment of a local ALS registry and biorepository ensures that this data is not only collected but actively analyzed to inform future research.
“We’re not just participants in a global study; we’re contributors to a global understanding of ALS,” said Frances. This sentiment underscores the essence of Target ALS’s impact in Puerto Rico: a synergy of global collaboration and local dedication, driving progress for a disease that knows no borders.
Looking Ahead
The journey is far from over. As Puerto Rico’s ALS research community grows, so does its influence. With each data point, each individual story, and each breakthrough, they are not just studying ALS—they are rewriting its future. Target ALS’s Global Natural History Study is more than a research project; it’s illuminating paths to better care, deeper understanding, and treatments for all.
