Perspectives: The Human Side of ALS Research

In the world of ALS research, the focus often lies on scientific rigor and data collection. Yet, as Corey Straub, a clincial development consultant who's worked in job is to enhance th patient experience, reminds us, the human experience of participating in clinical trials is equally significant. In this episode, Corey Straub shares insights on how small, human-centered changes in clinical trial experiences can significantly improve participant satisfaction, recruitment, and retention in ALS research.TopicsThe importance of patient experience in ALS trialsHow small acts of kindness improve recruitment and retentionThe development and impact of the ALS patient experience programThe role of human moments in clinical researchThe creation and growth of INARC, the international ALS research networkSummarySmall acts like providing coffee or entertainment can significantly improve participant experience.A positive participant experience can lead to faster recruitment and higher retention.Building human connections in clinical trials benefits both participants and research teams.Supporting participants' emotional and physical needs can improve trial outcomes.INARC connects ALS research and care professionals globally to advocate for better practices.

In this episode, Dr. Matthew Harms discusses the complexities of ALS genetics, focusing on variants of uncertain significance (VUS), the VUS Second Opinion Service, and how genetic insights are shaping ALS care and researchTopicsVariants of uncertain significance (VUS) in ALSThe VUS Second Opinion Service (VUS SOS)Impact of genetic testing on ALS diagnosis and careReevaluation and reinterpretation of genetic variantsGenetic therapies and research in ALS

In this episode, Dr. Senda Ajroud-Driss discusses the journey of ALS research from gene discovery to targeted therapies, the importance of patient contributions, and the future of precision medicine in ALS care.TopicsJourney from gene discovery to therapyThe importance of patient contributionsHeterogeneity in ALS and SOD1Biomarkers and neurofilament in ALSClinical trial insights and challengesFuture of gene-targeted therapies

The development of jacifusen (ulefnersen) began with families affected by FUS-ALS coming together to help bring attention to this rare form of ALS.In this conversation, Lori Hermstad shares the lives and legacies of her daughters, Alex and Jaci, and the family’s extraordinary advocacy following two devastating ALS diagnoses. Erin Fleming, co-founder and COO of ProJenX and former Director of Research Operations at Project ALS, shares how Project ALS supported the Hermstad family and, alongside the ALS Association, helped fund the initial development of this investigational antisense oligonucleotide.Together, they discuss building a global community of FUS families, connecting with researchers, overcoming questions about whether this population was too small to study, and helping move a family-driven effort into a clinical development program that has now reached an international Phase 3 trial.This episode explores what the FUS story can teach the broader ALS field about rare genetic forms of disease, the importance of every subgroup, and the essential role impacted families play in shaping research and therapeutic development.

Genetic Counselor Donna Bernstein and Dr. Nadia Sethi discuss genetics and genetic counseling and their impact on drug development and access to research.Their discussion highlights:Explores genetics as one of the fastest-evolving areas in ALS, spanning testing, family risk, precision therapies, and large-scale research, and what first drew Donna to genetic counseling.Shares how her mother's pancreatic cancer diagnosis brought her to the other side of the conversation, teaching her about uncertainty and family decision-making.Explains how a clinical diagnosis differs from a genetic one, and why many families receive an ALS diagnosis well before they ever have genetic testing.Examines the heterogeneity that exists even between variants within the same gene, and how to help families navigate that uncertainty.Traces the rapid evolution of testing from gene panels to whole exome, whole genome, and long-read sequencing, and what registries and large datasets could unlock.Considers how the genetic counselor's role is evolving alongside precision medicine, and some misunderstands about genetic testing that exist today.

Most ALS research today hinges on a simple question: how do we find reliable biomarkers that can unlock faster, more targeted drug development? Dr. Michael Benatar, an international leader in neuromuscular research unpacks the complex world of biomarkers, revealing why identifying and validating these biological tools has been such a challenge and why they are key to transforming ALS treatment.You'll discover how neurofilament light chain (NFL) is emerging as a promising prognostic and response biomarker, capable of predicting disease progress and evaluating therapy impact in real time. Dr. Benatar shares groundbreaking insights from his work on pre-symptomatic ALS and the CReATe Consortium, illustrating the steps from discovery to clinical validation. He breaks down the different types of biomarkers: diagnostic, prognostic, disease progression, predictive, and response, demystifying how each can shape your healthcare journey and research.If you're a person living with ALS, caregiver, researcher, or advocate eager for better treatments, this episode is essential. Don’t miss this vital conversation that could change how we fight ALS.