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 Neurology specialty topic page houses video interviews with key opinion leaders in the field of neurology about the latest relevant FDA actions, clinical guideline updates, and clinical trial findings related to cell therapies, gene therapies, and engineered and regenerative medicines developed for neurologic disorders and diseases. It also contains up-to-date clinical news coverage in the field of gene and cell therapy for central nervous system disorders.

In Episode 5 of ImmunoLogic, Michael T. Lotze, MD, discussed the evolution and future of tumor infiltrating lymphocyte (TIL) therapies.

ImmunoLogic, Episode 5: "Tumor Infiltrating Lymphocytes" With Michael T. Lotze, MD

We're excited to introduce another episode of the 

an assistant professor of microbiology and the director of the Fraietta Lab at the University of Pennsylvania. Fraietta is often joined by cohost 

 a clinical fellow in oncology (MSTR Program) at the University of Pennsylvania. Our hope is that this show will serve as a critical forum for clinicians, translational researchers, and biotech professionals to explore the evolving landscape of immunotherapy. We're seeking to bridge cutting-edge research with practical applications and delve into how immune-based therapies transition from innovative discoveries to transformative patient care solutions

a professor of surgery, immunology, and bioengineering at the University of Pittsburgh, about his work on tumor infiltrating lymphoctye (TIL) therapy. Fraietta and Lotze covered topics including the history of TIL research, the potential of TIL therapy in different tumor types, Lotze and his colleagues' new reciprocal learning model hypothesis, and concluded with some philosophical reflections on cancer research.

 is tailored for an audience fluent in the language of medicine and biotechnology, offering data-driven insights while maintaining accessibility. This podcast is an essential resource for those driving the future of immunotherapy.

Interested in cohosting an episode or being a guest? Have feedback to share? 

If you'd like to get in touch to talk about the show, contact our editorial director, Matt Hoffman: 

Podcasts

In episode 5 of ImmunoLogic, Michael T. Lotze, MD, discusses the evolution and future of tumor-infiltrating lymphocyte therapies.

ImmunoLogic, Episode 5: "Tumor Infiltrators and Triumphs: The Evolution of TIL Therapy" With Michael T. Lotze, MD

This interview originally appeared on our sister site,

to subscribe on your favorite streaming service.

The Mind Moments podcast features exclusive interviews with leaders in neurology discussing the latest research and disease management strategies across the breadth of the field, including epilepsy, multiple sclerosis, Parkinson disease (PD), dementia, sleep disorders, and more.

In this episode, "Bemdaneprocel and the Future of Cell Therapy in Parkinson Disease" Rajesh Pahwa, MD, the director of the Parkinson’s Disease and Movement Disorder Center at the University of Kansas Medical Center, speaks on the phase 3 exPDite-2 clinical trial, which is assessing investigational cell therapy bemdaneprocel for the treatment of PD. Pahwa discusses the thought process behind using cell replacement therapy with the intent of restoring production of dopamine, giving an outline of the progression from fetal tissue implants to stem cell–derived dopaminergic neurons. He goes over key elements of the trial's design, including the criteria for selecting patients, study end points, and long-term goals. Reflecting upon decades' worth of research in this field, Pahwa stresses the potential impact of a one-time, hardware-free surgical approach and how this novel option could build upon or shift the current landscape of care. Although a number of questions remain, Pahwa underlines the promise of bemdaneprocel as a next-generation therapy in PD care.

The stories featured in this week's Neurology News Minute, which provide quick updates on the following developments in neurology, are further detailed here:

BTK Inhibitor Fenebrutinib Demonstrates Long-Term Suppression of MS Activity in Open-Label Extension

REGENXBIO Reports Positive Phase 1/2 Data for Higher Dose of RGX-202 in Duchenne Muscular Dystrophy

NewAmsterdam Pharma Reports Positive Topline Data of Alzheimer Agent Obicetrapib from Phase 3 BROADWAY Trial

 – Mechanism and rationale behind bemdaneprocel as a dopaminergic cell therapy

– Key design considerations for conducting a registrational phase 3 cell therapy trial

 – Trial structure, eligibility criteria, and ongoing patient recruitment

 – Significance of reaching phase 3 with a cell therapy in Parkinson disease

 – Future role of cell therapy within the Parkinson disease treatment landscape

 – Unique aspects of the exPDite-2 trial and what sets it apart from earlier efforts

 to subscribe to the Mind Moments podcast, and be sure to leave a rating and review for the show. Thanks for listening!

Hoping to listen on your favorite podcast app? See below:

Mind Moments®, a podcast from our sister site NeurologyLive®, held an exclusive interview with Rajesh Pahwa, MD.

Cell Therapy in Parkinson Disease: Bemdaneprocel and What Lies Ahead

In Episode 4 of ImmunoLogic, Caroline Diorio, MD, FRCPC, FAAP, discussed her research on adverse events associated with CAR-T.

 ImmunoLogic, Episode 4: "Inflammatory Storms and Gentle Balances" With Caroline Diorio, MD, FRCPC, FAAP

an assistant professor of microbiology and the director of the Fraietta Lab at the University of Pennsylvania! Fraietta is joined by cohost 

an attending physician at the Cancer Center at Children's Hospital of Philadelphia, about her research into inflammatory toxicities in cell therapy. Diorio, Fraietta, and Minehart covered topics including predicting and managing toxicities like cytokine release syndrome (CRS) and immune effector cell-associated neurotoxicity syndrome (ICANS), the need for rigorous research to understand the underlying biology of these toxicities, the importance of transparency in manufacturing processes, and the potential for decoupling potency from toxicity.

Interested in co-hosting an episode or being a guest? Have feedback to share? 

In Episode 4 of ImmunoLogic, Caroline Diorio, MD, FRCPC, FAAP, discussed her research on adverse events associated with cell therapy.

ImmunoLogic, Episode 4: "Inflammatory Storms and Gentle Balances: Navigating Toxicities in Immunotherapies" With Caroline Diorio, MD, FRCPC, FAAP

In Episode 3 of ImmunoLogic, Marcela Maus, MD, PhD, discussed her research on CAR-T for treating glioblastoma.

ImmunoLogic, Episode 3: "Breaking the Brain’s Barrier: CAR T Cells Take on Glioblastoma" With Marcela Maus, MD, PhD

the director of the Cellular Immunotherapy Program at the Massachusetts General Hospital Cancer Center, about her research into the use of chimeric antigen receptor T-cell (CAR-T) therapy to treat glioblastoma. Maus, Fraietta, and Minehart covered topics including challenges and insights from early clinical trials, innovations and clinical results, antigen expression and the possibility of readministration, as well as the autologous versus allogeneic debate.

ImmunoLogic, Episode 3: "Breaking the Brain’s Barrier: CAR T-Cells Take on Glioblastoma" With Marcela Maus, MD, PhD

In Episode 2 of ImmunoLogic, Bruce Levine, PhD, discussed the current the risk-benefit-ratio for CAR-T therapy.

ImmunoLogic, Episode 2: "Charting New Frontiers in CAR T-Cell Safety" With Bruce Levine, PhD

, a clinical fellow in oncology (MSTR Program) at the University of Pennsylvania. Our hope is that this show will serve as a critical forum for clinicians, translational researchers, and biotech professionals to explore the evolving landscape of immunotherapy. We're seeking to bridge cutting-edge research with practical applications and delve into how immune-based therapies transition from innovative discoveries to transformative patient care solutions

 the Barbara and Edward Netter Professor in Cancer Gene Therapy at the Perelman School of Medicine at the University of Pennsylvania, about the black box warnings for secondary malignancies that were issued by the FDA with regard to the autologous chimeric antigen receptor T-cell (CAR-T) therapies approved by the agency, and the implications of the findings that informed these warnings for the risk-benefit ratio of these therapies. Levine, Fraietta, and Minehart covered topics including risk and informed consent, genetic modification as it relates to safety, epitope spreading and T-cell stimulation, and the importance of the National Institutes of Health (NIH) to CAR T-cell research.

In Episode 1 of ImmunoLogic, Stephen J. Schuster, MD, discussed the potential of treating lymphoma without chemotherapy.

ImmunoLogic, Episode 1: "Chemo-Free Lymphoma? Seriously?" With Stephen J. Schuster, MD

, a clinical fellow in oncology (MSTR Program) at the University of Pennsylvania. Our hope is that this show will become a critical forum for clinicians, translational researchers, and biotech professionals to explore the evolving landscape of immunotherapy. We're seeking to bridge cutting-edge research with practical applications and delve into how immune-based therapies transition from innovative discoveries to transformative patient care solutions

, the director of the Lymphoma Program at Penn Medicine, about the changing role of chemotherapy in lymphoma treatment, and the potential for its elimination. Schuster covered topics including trials for chimeric antigen receptor T-cell (CAR-T) therapy without lymphodepletion, using AI to predict CAR-T treatment outcomes, the importance of T-cell fitness, and the role of persistence in CAR-T success.

Joseph Fraietta, PhD, previews his new podcast, ImmunoLogic

ImmunoLogic Episode 0

an assistant professor of microbiology and the director of the Fraietta Lab at the University of Pennsylvania! Our hope is that this show will become a critical forum for clinicians, translational researchers, and biotech professionals to explore the evolving landscape of immunotherapy. We're seeking to bridge cutting-edge research with practical applications and delve into how immune-based therapies transition from innovative discoveries to transformative patient care solutions.

In this short preview episode, Fraietta outlines the podcast’s mission to scrutinize the critical milestones shaping immunotherapy today and discuss how episodes will analyze the journey from bench to bedside—focusing on the real-world implementation of clinical data and the impact of regulatory achievements on patient outcomes. Topics will include discussions on chimeric antigen receptor (CAR) T-cell therapies, tumor-infiltrating lymphocyte (TIL)-based approaches, antibody-driven treatments, and the latest advances in gene editing technologies such as CRISPR, with a goal of expanding the conversation outside of the field of oncology.

 will be tailored for an audience fluent in the language of medicine and biotechnology, offering data-driven insights while maintaining accessibility. With its first full episode launching in early 2025, this podcast promises to be an essential resource for those driving the future of immunotherapy.

Hosted by Joseph Fraietta, PhD, ImmunoLogic will be tailored for an audience fluent in the language of medicine and biotechnology, offering data-driven insights while maintaining accessibility.

CGTLive® Presents: ImmunoLogic, A Video Podcast With Joseph Fraietta, PhD

The Mind Moments podcast features exclusive interviews with leaders in neurology discussing the latest research and disease management strategies across the breadth of the field, including epilepsy, multiple sclerosis, Parkinson disease, dementia, sleep disorders, and more.

In this episode, "The Promise Behind Cell Therapy Approaches in Epilepsy" Jonathan Parker, MD, PhD, an assistant professor of neurosurgery at Mayo Clinic Arizona, speaks on the emerging interest in cell therapy as a potential means to address epilepsy. The discussion, which took place at the 2024 American Epilepsy Society (AES) Annual Meeting in Los Angeles, California, goes into the rationale behind this approach and the advantages it may have over traditional surgical approaches that can result in detrimental cognitive effects. Parker, director of the Device-Based Neuroelectronics Lab, went over the different types of cell therapies currently in development, limitations and challenges associated with these approaches, and the need to design innovative clinical studies to test them appropriately. In addition, Parker touched on the therapeutic pipeline of cell therapies for epilepsy, including his experience leading a study site for a first-in-human trial evaluating NRTX-1001, an investigational product derived from human pluripotent stem cells.

Anavex Submits Marketing Authorization Application for Blarcamesine in Alzheimer Disease in the EU

Testing Begins for RELIEV-CM2 Study of ShiraTronics Neuromodulation Device in Chronic Migraine

STK-001 Gains FDA Breakthrough Designation as Potential Disease-Modifying Treatment for Dravet Syndrome

 – Idea behind cell therapy to treat epilepsy

 – Current state of stem cell therapies for neurological disorders, focusing on Parkinson disease, stroke, and epilepsy

 – NTE001 study for NRTX-1001, an investigational human embryonic stem cell product

 – Unanswered questions and safety concerns with cell therapies; challenges with clinical trial design and the need for more innovative trials

 – Misconceptions or gaps in understanding about cell therapies for epilepsy

 – Unique challenges and potential of stem cell therapies for epilepsy, particularly in younger patients; patient motivation and hope

Mind Moments®, a podcast from our sister site NeurologyLive®, held an exclusive interview with Jonathan Parker, MD, PhD.

The Promise of Cell Therapy Approaches in Epilepsy

The postdoctoral research fellow at Brigham and Women's Hospital discussed research on focused ultrasound aimed at enhancing AAV delivery across the blood-brain barrier.

Bernie Owusu-Yaw, PhD, on Focused Ultrasound Mediated Delivery for AAV Gene Therapy

Review top news and interview highlights from the week ending August 15, 2025.

CGTLive®’s Weekly Rewind – August 14, 2025

Catch up on the latest news, breakthroughs, and announcements from biotechnology companies making advancements in cell and gene therapies. 

Around the Helix: Cell and Gene Therapy Company Updates – August 13, 2025

Rajeev Sivasankaran, PhD, vice president of neuroscience at Voyager Therapeutics, discussed preclinical data on the company’s AAV-delivered RNA interference therapy, VY-1706.

Voyager’s Single-Dose AAV Strategy for Silencing Tau for Alzheimer Disease

AAV2-BDNF gene therapy shows promise in preventing neuronal loss and cognitive decline in early Alzheimer disease, according to trial results.

Alzheimer Disease Gene Therapy Provides Restoration of Entorhinal Cortex FDG-PET Activity in Phase 1 Trial

The senior scientist at Voyager Therapeutics discussed the company’s work on developing AAV capsids capable of overcoming patients’ preexisting immunity.

Damien Maura, PhD, on AAV Capsids That Evade Neutralizing Antibodies

“...In the field of AAV gene therapy, there is between 30% and 65% of patients that cannot receive an AAV gene therapy treatment due to the presence of neutralizing antibodies. The goal of our work was to try and find a solution for that problem.”

Over the past few years, adeno-associated virus (AAV) vector-based gene therapy has gained a foothold as a key gene therapy modality, and is currently represented by several FDA-approved products and numerous investigational therapeutic candidates. Although AAV vector-based gene therapies have transformative potential for some indications, a substantial number of patients may be unable to receive theese products because they have preexisting immunity to the AAV capsid in use by a particular therapy.

Voyager Therapeutics is currently seeking to overcome this challenge through the development of novel AAV capsids that target the central nervous system (CNS) and are able to evade the body’s immune response. Notably, Damien Maura, PhD, a senior scientist at Voyager, presented preclinical research on this topic at 

the American Society of Gene & Cell Therapy (ASGCT) 28th Annual Meeting

, held May 13 to 17, 2025, in New Orleans, Louisiana.

 sat down with Maura to learn more. Maura explained that using the company's proprietary TRACER technology, Voyager redesigned capsid surfaces to remove antibody epitopes in order to improve immune evasion.

Maura highlighted the discovery of a third-generation TRACER capsid that preserves the brain transduction efficiency and cellular tropism of its parent capsid while adding mutations for antibody resistance. He also pointed out that machine learning models further identified additional mutations that could enhance both brain transduction and immune evasion.

Maura emphasized that although these findings are promising, translation to humans remains the biggest unknown until clinical trials begin. He also touched on Voyager’s future plans for the technology, which will focus on further expanding patient eligibility by incorporating additional mutations to capsid epitopes.

Click here to view more coverage of the 2025 ASGCT Annual Meeting.

Videos

The vice president of neuroscience at Voyager Therapeutics shared preclinical data on the company’s AAV-delivered RNA interference therapy, VY-1706.

Rajeev Sivasankaran, PhD, on Voyager’s Single-Dose AAV Strategy for Silencing Tau for Alzheimer Disease

“I think we're very excited about the progress the preclinical data that we've generated so far, and we're on track for continuing to our GLP tox studies, and we look forward to an IND filing in 2026.”

 spoke with Rajeev Sivasankaran, PhD, vice president of neuroscience at Voyager Therapeutics, who presented new preclinical data at 

, held May 13 to 17, 2025, in New Orleans, Louisiana. His presentation focused on VY-1706, an investigational gene therapy intended to treat Alzheimer disease by delivering tau-silencing siRNA through a single intravenous (IV) dose of adeno-associated virus (AAV).

VY-1706 is still in preclinical development and utilizes the AAV platform to deliver a potent, selective siRNA payload directly to affected brain regions. The therapy demonstrated strong pharmacologic activity in the P301S mouse model of tauopathy, which shows early and progressive tau accumulation. A single IV administration of VY-1706 resulted in broad central nervous system biodistribution and significantly reduced tau mRNA and protein expression, including reductions in pathologic tau.

In nonhuman primate studies, VY-1706 achieved dose-dependent delivery and greater than 50% knockdown of tau protein in the cortex, hippocampus, and other brain regions relevant to AD. Notably, the treatment was well-tolerated, with no clinical signs or changes in cardiac or liver enzymes and no elevation of neurofilament light chain, a surrogate marker for AAV-associated neurotoxicity. “We did not see any clinical signs or clinical chemistry changes, including cardiac enzymes and liver enzymes,” Sivasankaran told 

The company expects to initiate GLP toxicology studies later this year and aims to submit an investigational new drug application in 2026. VY-1706 is 1 of 2 tau-targeting programs at Voyager, alongside a monoclonal antibody currently in human trials.

The McCaw Endowed Chair of Muscular Dystrophy at University of Washington discussed how ongoing research into next-generation DMD therapies aims to improve delivery methods, develop better vectors that can carry larger dystrophin genes, and determine optimal treatment timing, with evidence suggesting earlier intervention may be more effective

Jeffrey Chamberlain, PhD, on The Role of Gene Therapy for Patients with Duchenne Muscular Dystrophy

“The idea arises that if you could restore levels of dystrophin up to 15% or maybe even a little higher through a gene therapy approach, that could have really a tremendous impact on the progression of the disease."

, Jeffrey Chamberlain, PhD, Professor of Neurology and Medical Genetics and McCaw Endowed Chair for Muscular Dystrophy at the University of Washington, discussed the evolving landscape of gene therapy for Duchenne muscular dystrophy (DMD). Chamberlain outlined the promise of microdystrophin constructs delivered via adeno-associated virus (AAV) vectors to restore dystrophin expression, while also pointing out key limitations in current technologies. 

Notably, AAV vectors can only deliver about one-third of the full-length dystrophin gene, which restricts therapeutic potential. He emphasizes that treatment efficacy is closely tied to age, with younger patients—treated before advanced disease progression—experiencing significantly better outcomes. Clinical experience with Elevidys, Sarepta’s FDA-approved gene therapy, reflects these patterns: while early intervention can help prevent dystrophic changes, reversing established disease remains a major challenge. Chamberlain also noted that while preclinical models showed strong prevention in young animals, they echoed reduced benefit in cases of established disease. This aligns with data seen in older patient populations. There’s growing urgency to develop improved delivery methods and larger dystrophin constructs.

The McCaw Endowed Chair of Muscular Dystrophy at University of Washington discusssed how gene therapy shows promise for DMD treatment, though challenges remain with delivery efficiency and determining which patients will benefit most.

Jeffrey Chamberlain, PhD, on the Role of Gene Therapy for Patients with Duchenne Muscular Dystrophy

This is the second part of an interview with Laura Aguilar MD, PhD. For the first part, 

The chief medical officer of Diakonos Oncology discussed the broader implications of a positive data readout from a trial for the company’s autologous dendritic cell immunotherapy.

Laura Aguilar MD, PhD, on the Potential to Apply Immunotherapy DOC1021 to a Broad Array of Tumor Types

“This could be used for any tumor where we can get a tumor sample and a patient can undergo a leukapheresis procedure to give us their peripheral blood cells. There's a huge opportunity here for a platform technology that could really benefit a lot of patients with a lot of different tumor types. Needing to do a separate trial for each tumor indication is expensive. More funding to be able to test this in more tumor indications will really allow it to, I think, reach its full potential.”

2025 American Society of Clinical Oncology (ASCO) Annual Meeting

, held May 30 to June 3, in Chicago, Illinois, Diakonos Oncology is presenting data from a phase 1 clinical trial evaluating dubodencel (also known as DOC1021), an investigational autologous dendritic cell immunotherapy made from patients’ own tumor cells and peripheral blood mononuclear cells, for the treatment of gliobastoma. Notably, the results showed that the immunotherapy was well tolerated across all 4 dose levels tested and an 88% 12-month survival rate was observed for a group of newly diagnosed patients (n = 16), which was notably higher than what would be expected for the patient population with standard of care treatment.

 held a discussion with Laura Aguilar MD, PhD, the chief medical officer of Diakonos Oncology, 

 In the context of this conversation, Aguilar also went over the broader implications of the new data, and discussed potential future plans to apply the DOC1021 platform to a broader range of tumor types. Aguilar pointed out that a separate phase 1 clinical trial for the immunotherapy is already ongoing at Baylor College of Medicine in pancreatic cancer and pancreatic adenocarcinoma and that Diakonos is getting ready for an additional trial in refractory melanoma. She also touched on how work is currently being done aimed at making the manufacturing process for DOC1021 more efficient.

Click here to view more coverage of ASCO's 2025 Meeting.

Laura Aguilar, MD, PhD, on the Potential to Apply Immunotherapy DOC1021 to a Broad Array of Tumor Types

The chief medical officer of Diakonos Oncology discussed phase 1 data on the company’s autologous dendritic cell immunotherapy.

Laura Aguilar MD, PhD, the chief medical officer of Diakonos Oncology

“At this point, we have pretty good follow-up on these patients, and what we have seen is a better survival than you would expect.”

Patients with glioblastoma face very limited treatment options and the unmet need for novel treatments is substantial. Diakonos Oncology is currently evaluating dubodencel (also known as DOC1021), an investigational autologous dendritic cell immunotherapy made from patients’ own tumor cells and peripheral blood mononuclear cells, for the treatment of gliobastoma in a phase 1 clinical trial. Notably, the company is presenting data from this study at the 

, held May 30 to June 3, in Chicago, Illinois.

 interviewed Laura Aguilar MD, PhD, the chief medical officer of Diakonos Oncology, to learn more. Aguilar described how DOC1021 is made and how it is intended to function, and then went over the key results being presented at ASCO this year. She pointed out that the study enrolled 18 patients, including 16 patients who were newly diagnosed and 2 with recurrent disease. DOC1021 was administered via 3 injections into the deep cervical lymph nodes following chemoradiation, but prior to adjuvant temozolomide. Aguilar stated that the immunotherapy was well tolerated across all 4 dose levels, with no dose-limiting toxicities observed.

With regard to efficacy findings, Aguilar explained that investigators observed increased T-cell trafficking to the tumor in posttreatment tumor samples, as well as rises in central memory CD4+ and CD8+ T-cells in the peripheral blood. The 12-month survival ratefor the 16 newly diagnosed patients was 88%, notably higher than would be expected for the patient population with standard of care treatment, given that the group had poor prognostic features, such as being 94% MGMT unmethylated and 25% not having had gross total tumor resections. Aguilar also briefly discussed plans for a recently launched phase 2 clinical trial for DOC1021.

Laura Aguilar, MD, PhD, on Evaluating Immunotherapy DOC1021 for Glioblastoma

This video originally appeared on our sister site, 

The clinical neurophysiologist at Children’s National and the professor of neurology at The Ohio State University Wexner Medical Center discussed treatment considerations for patients already living with SMA.

Diana Bharucha-Goebel, MD, and Bakri Elsheikh, MBBS, FRCP, on Setting Realistic Goals for Long-Standing SMA

...[I]f a patient tells you they don’t feel as worn down after an illness as they used to, that matters. It may not register on a formal scale, but it’s a real, measurable improvement in their quality of life.

An autosomal recessive disorder, spinal muscular atrophy (SMA) is caused by mutations in both copies of the 

 gene on, which is found on chromosome 5q. It appears in about 1 in 15,000 live births. Carrier rates vary by ethnicity in the United States, from 1 in 47 for Whites to 1 in 72 for African Americans, with respective detection rates of 94.8% and 70.5%. Progressive muscle weakness and atrophy result from the dysfunction and irreversible loss of alpha motor neurons in the spinal cord and brainstem in patients with SMA.

Cure SMA, an advocacy group focused on pushing forward the care of patients with SMA, released a new best practices guideline earlier this year regarding decision-making for healthcare providers (HCP), patients, and caregivers in North American and Western Europe. 

 brought together study authors Diana Bharucha-Goebel, MD, a clinical neurophysiologist at Children’s National, and Bakri Elsheikh, MBBS, FRCP, a professor of neurology at The Ohio State University Wexner Medical Center, to help translate these recent updates.

In the third episode, Bharucha-Goebel and Elsheikh examine how treatment decisions differ for patients with long-standing or adult-onset SMA. They highlight the need to assess coexisting medical complications, patient preferences, and logistical factors that can affect therapy delivery. The discussion emphasized setting realistic goals—such as stabilization or slowed decline—as valid outcomes, while also acknowledging meaningful but often unmeasured improvements like reduced fatigue or fewer hospitalizations. The duo also touched on how these insights shape communication with families and support policy decisions around treatment authorization.

To visit the 2025 Cure SMA Update in Best Practices,

Canonical

The clinical neurophysiologist at Children’s National and the professor of neurology at The Ohio State University Wexner Medical Center discussed treatment decisions in newly diagnosed SMA.

Diana Bharucha-Goebel, MD, and Bakri Elsheikh, MBBS, FRCP, on Considerations for Starting SMA Treatment

Clinically, when I think about choosing which therapy to start, I also look at factors like administration route, side effects, baseline symptoms, and lab results. For older individuals, we might consider things like scoliosis, which can affect whether an intrathecal or oral option is more appropriate. We also take into account how often the treatment needs to be given, as well as the family’s or patient’s preferences. It’s a multilayered decision that combines clinical safety, logistics, and shared decision-making.

In episode 2, Bharucha-Goebel and Elsheikh explore the multifaceted decision-making process when starting treatment for newly diagnosed patients with SMA. They discussed the urgency of early intervention, particularly in infants, the importance of 

 copy number, and the need to explain genetics, treatment options, and safety considerations to patients' families. The conversation emphasized the evolving nature of SMA classification and the central role of shared decision-making between clinicians, patients, and caregivers.

The clinical neurophysiologist at Children’s National and the professor of neurology at The Ohio State University Wexner Medical Center discussed the evolving SMA treatment landscape.

Diana Bharucha-Goebel, MD, and Bakri Elsheikh, MBBS, FRCP, on How New Therapies Are Changing SMA Care Guidelines

The treatment landscape for SMA has shifted dramatically over the past decade. We now have three FDA-approved, disease-modifying therapies for SMA in children. On top of that, newborn screening is now available in all US states as of 2024. These advances have changed the way patients come into our care—whether it’s newborns, expectant families, or older individuals.

In this episode, Bharucha-Goebel and Elsheikh spoke about the transformative changes in the treatment landscape for SMA over the past decade, including the advent of 3 FDA-approved disease-modifying therapies and the nationwide rollout of newborn screening in the US. They explain why an updated consensus on best practices was needed, highlighting how the group combined systematic literature review, international clinician input, and patient and caregiver perspectives to address the evolving care needs of SMA patients, from presymptomatic infants to older individuals.

Transcript edited for clarity. To visit the 2025 Cure SMA Update in Best Practices,

The chief scientific officer of the Parkinson’s Foundation discussed how broad genetic testing through PD GENEration is uncovering valuable prognostic and diagnostic insights in Parkinson disease.

James Beck, PhD, on Illuminating Genetic Insights in Parkinson Disease Through PD GENEration

"We’re talking to clinicians who discover anecdotally that the person they were sure had a genetic form of Parkinson doesn’t and then someone they never suspected turns out to have a genetic link. That really underscores the broad nature of what we’re trying to do with PD GENEration, which is to offer genetic testing to everyone in a clinic."

Each April, Parkinson’s Awareness Month is observed with the goal of raisingpublic understanding of the progressive movement disorder affecting nearly 1 million patients in the United States known as Parkinson disease (PD). The 

 recently initiated a campaign during the month for educating the public on key aspects of PD, from symptoms to treatment options.

 Videos, tips, and resources such as answers to the most frequently asked questions about PD in both English and Spanish were shared in the animated, digital guide to 

 campaign each week. PD Awareness Month additionally serves as a period for patients to share their stories and build a sense of community so as to not feel alone in their journey living with the condition, the Foundation noted.

, in partnership with Global Parkinson’s Genetics Program, offers alongside the 

 campaign whole genome sequencing (WGS) and genetic counseling to patients with PD across more than 8 countries. The program, which lead author 

 the chief scientific officer of the Parkinson’s Foundation, presented at the 2025 American Academy of Neurology (AAN) Annual Meeting, held April 5-9, in San Diego, California, includes a panel of 7 core PD genes and 21 additional genes linked to parkinsonisms, with materials adapted for regional languages and healthcare systems. The initiative, which utilizes a decentralized, “train the trainer” model, has enrolled over 18,000 participants since 2019, with more than 1800 undergoing WGS. A notable 12.2% positivity rate for PD-related variants has been reported, and all genetic data will be shared by way of the AMP-PD platform.

At the AAN Annual Meeting, Beck, sat down with 

 to highlight the evolving role of genetics in PD, emphasizing how WGS through PD GENEration could be revealing unexpected findings that challenge clinical assumptions. Although current treatment approaches remain symptom-focused, Beck noted that genetic data, such as mutations in 

 may inform prognostic conversations and future clinical trial inclusion. He explained that the initiative also includes optional secondary findings panels, identifying not only Parkinsonism-related variants but also CDC Tier 1 actionable genes tied to hereditary cancer and cardiovascular conditions. Beck emphasized that these insights may support broader decision-making in neurology and underscore the potential of precision medicine in PD.

REFERENCES
1. Parkinson’s Foundation Guides People to Important Resources During Parkinson’s Awareness Month. News Release. Parkinson’s Foundation. Published April 1, 2025. Accessed April 29, 2025. https://www.parkinson.org/about-us/news/2025-parkinsons-awareness-month
2. Beck J, Galvelis KG, Dini M, et al. Implementing Whole Gene Sequencing and Genetic Counseling Internationally for People with Parkinson’s Disease: The PD GENEration Experience. Presented at: 2025 AAN Annual Meeting; April 5-9; San Diego, CA. Poster Session 3. Abstract 5-007.

Editor’s Note: Beck has disclosed that he has received personal compensation for serving as an employee of Parkinson's Foundation and that the institution of Beck has received research support from NIH, MJFF.

The chief scientific officer of the Parkinson’s Foundation discussed the foundation’s efforts to integrate whole genome sequencing into PD GENEration and expand access across diverse global populations.

James Beck, PhD, on Expanding Access to Whole Genome Sequencing in Parkinson Research

“A key question we always get from [patients] with Parkinson is: if they don’t have a genetic form of Parkinson from a panel, do I still have Parkinson? And the answer is yes—you just don’t have a genetic form that we know of as of yet.”

Whole genome sequencing (WGS) and genetic counseling for patients with Parkinson disease (PD) is now provided across more than 8 countries in the Americas and Israel via the PD GENEration study, which is led by the Parkinson’s Foundation in collaboration with the Global Parkinson’s Genetics Program (GP2). Genetic testing in the study includes a panel of 7 core genes associated with PD, as well as a further 21 genes potentially linked to parkinsonisms. The study adapted counseling materials for use across regions in order to support expansion internationally, tailoring these to local languages, cultural contexts, and healthcare infrastructure.

The program has used a decentralized model and “train the trainer” approach to scale its efforts globally by way of partnerships with organizations like LARGE-PD in Latin America and research sites in Canada and Israel. Over 1800 participants have undergone WGS since October 2024, contributing to a larger cohort of more than 18,000 patients with PD enrolled as of 2019. A 12.2% positivity rate for known PD-related genetic variants is currently reported. 

constitute the most common variants seen. Through the AMP-PD platform, all data will be made available publicly with the intent of supporting future research and precision medicine in PD.

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