Tag Archives: epilepsy research

Episode 45: The 2023 International TSC Research Conference

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On this episode of TSC Now, host Dan Klein recaps the 2023 International TSC Research Conference: Fueling the Future held September 7-9, 2023, in Washington, DC. The conference brought together over 200 researchers from around the world representing a wide array of specialties and the entire spectrum from basic science to clinical research.

The comprehensive three-day agenda included plenary sessions, breakout group discussions, a poster session and reception, as well as an Early Career Research Symposium during which early-stage investigators had the opportunity to report on their cutting-edge research, network, and learn about the diverse paths forward in the field of TSC research. To learn more about how the conference came together, what was discussed and what are some of the outcomes coming from those discussions Dan interviewed the two Co-Chairs of the conference.

First, Dan spoke with with Shafali Jeste, MD, (01:42) Professor of Pediatrics and Neurology at the USC Keck School of Medicine, and the Las Madrinas Chair, Chief of Neurology and Co-Director of the Neurological Institute at the Children’s Hospital, Los Angeles. They discuss the role of the Co-Chair in the planning and execution of the conference, how bringing in outside experts create new avenues for research and collaboration, and how recent clinical trials may provide a blueprint for the standard surveillance and care for infants with tuberous sclerosis complex (TSC).

Next, Dan talks to Rebecca Ihrie, PhD, (14:41) Associate Professor, Cell & Developmental Biology and Neurological Surgery, Vanderbilt University School of Medicine. She shares how basic scientists benefit from interactions with clinical researchers and the TSC community, how new techniques cell biology may allow for more targeted drug testing and how participation in the conference by early-career researchers helps them form connections and determine their future path in research.

Learn more about the 2023 International TSC Research Conference by downloading the program book.

Episode 43: The TSC-STEPS Trial

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In this episode of TSC Now, host Dan Klein dives deep on a new clinical trial in tuberous sclerosis complex (TSC) called TSC-STEPS. TSC-STEPS is a study to learn more about a drug known as Sirolimus and determine if it can prevent seizures and epilepsy in children diagnosed with TSC. The study is currently enrolling infants diagnosed with TSC who are at risk of developing epilepsy. \

Dan interviews Darcy Krueger, MD, PhD, Director of the TSC Center of Excellence at Cincinnati Children’s Hospital and member of the TSC Alliance Board of Directors (0:59). Dr. Krueger provides an overview of the trial, the eligibility requirements, risks and benefits to participation, and what participation entails for families in terms of site visits and tests. He also discusses how the trial builds off findings of earlier intervention trials and may be part of a greater shift in the paradigm of care for those with TSC. Finally, he provides information about other upcoming and ongoing trials looking for older participants, and encourages everyone listening to help raise awareness of these important trials to help recruit participants and move research forward.

Resources and Links

 

Episode 42: Understanding Seizure Clusters

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In the first episode of TSC Now in 2023, host Dan Klein recognizes International Epilepsy Day (February 13, 2023) and Seizure Action Plan Awareness Week (February 13-20, 2023) by learning about seizure clusters, which are episodes of frequent seizure activity that are distinct from a person’s usual seizure pattern. Seizure clusters may also be called acute repetitive seizures, serial seizures, crescendo seizures or seizure flurries and in every case they are an emergency that often require rescue medication, calling for emergency response or both.

Dan is joined by James Wheless, MD, (01:33) Director of the Neuroscience Institute and Comprehensive Epilepsy Program and Co-Director of the TSC Center of Excellence at Le Bonheur Children’s Hospital, and Professor and Chief of Pediatric Neurology at University of Tennessee Health Science Center. Dr. Wheless describes what seizure clusters are, why they are a medical emergency and how new rescue medications can provide peace of mind to people who suffer from seizure clusters. He also discusses the importance of creating a seizure action plan and how to best implement and refine that plan to make sure it is working. Finally, he emphasizes the importance for parents to meet with their neurologist as soon as they notice irregular seizure activity and to not hesitate to use rescue medication when their loved one experiences an irregular change in the frequency or severity of their seizures.

Resources and Links

This episode is sponsored by:

Episode 33: Noema, Basimglurant and a New Clinical Trial for Seizures in TSC

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In a very special early episode of TSC Now, host Dan Klein recognizes International #EpilepsyDay and the kickoff of the second annual Seizure Action Plan Awareness Week. In November 2020, a collaboration of three non-profit organizations, the TSC Alliance, Dravet Syndrome Foundation and Lennox-Gastaut Syndrome (LGS) Foundation, launched the Seizure Action Plan (SAP) Coalition to educate people with epilepsy, their caregivers and healthcare professionals about seizure emergency rescue protocols and the importance of personalized seizure action plans.  As part of this effort the group is recognizing Seizure Action Plan Awareness Week (#SAPAW2022) to coincide with International Epilepsy Awareness Day on February 14.

This month’s episode is sponsored by Noema Pharma and explores their clinical trial to treat seizures common in TSC. A Swiss biotech company, Noema, is investigating a novel substance which has shown some positive effects in laboratory models related to tuberous sclerosis complex (TSC). The substance is called basimglurant, and it affects the activity of glutamate, an important molecule used by many neurons to communicate with other neurons in the brain, by acting on a receptor for glutamate called mGluR5. The company is setting up clinical trials to test whether the effect seen in the laboratory may also be seen in people.

First, to learn more about basimglurant and preclinical experiments underpinning the upcoming clinical trial, Dan spoke to Ype Elgersma, Professor of Molecular Neuroscience, Head of Research in the Department of Clinical Genetics, and Director of the ENCORE Expertise Center for Neurodevelopment Disorders at the Erasmus Medical Center In The Netherlands; and John Kemp, Former Chief Scientific Officer at Noema (02:28). They share what metabotropic glutamate receptor 5, or mGluR5, is and how increased activity at mGluR5 may lead to epilepsy; how negative modulators of this overactivity may be used as a treatment for epilepsy in TSC, and how Dr. Mustafa Sahin of Harvard Medical School tested this hypothesis in TSC mouse models. Findings from this study was published in 2018 in Neuropsychopharmacology. 

Next, Dan spoke to Ali Mostajelean, MD, Associate Professor of Neurology, Director of the Epilepsy Service and Tuberous Sclerosis Clinic at UCSF Benioff Children’s Hospital; and George Garibaldi, Chief Medical Officer at Noema (07:55). They shared how Noema is using the findings in animal models as justification for a clinical trial and share how clinical studies using basimglurant for depression and Fragile X showed that the compound was safe in humans, albeit not as effective as researchers thought it would be in those disease states.

Finally, Dan spoke with Renata Lazarova, VP of Development, Pediatric Programs at Noema, and Steve Roberds, PhD, Chief Scientific Officer of the TSC Alliance (10:55), to learn what the clinical trial looks like, who can enroll, how Noema will determine whether the drug is efficacious and safe, and where people can find more information. Steve also talked about our partnership with Noema and how they worked with the TSC Alliance early on to solicit feedback from the TSC community and design a trial that both meets the needs of those with TSC and considers the quality of life of those participating.

Noema’s clinical study with their negative modulator of mGluR5 is currently participants across the US, Russia, Ukraine, Israel and Australia. For more information including the list of sites participating in the study, please contact Jo Anne Nakagawa at jnakagawa@tscalliance.org or (301) 562-9890.

Resources and Links
Learn more about International Epilepsy Day: https://internationalepilepsyday.org/
Learn more about the Seizure Action Plan Coalition and #SAPAW2022: https://seizureactionplans.org/
Learn more about epilepsy in TSC: https://www.tscalliance.org/about-tsc/signs-and-symptoms-of-tsc/brain-and-neurological-function/epilepsy-and-seizure-disorders/
Read an abstract of Dr. Sahin’s research looking at mGluR5 Modulation of Behavioral and Epileptic Phenotypes in a Mouse Model of Tuberous Sclerosis Complex: https://www.nature.com/npp/about?gclid=Cj0KCQiA34OBBhCcARIsAG32uvPcCBYuxzzlON-Xe9EikeYJD6XNNl8TDElaFiONa-02BSWFUv4w2voaAk6REALw_wcB

This episode is sponsored by:

Learn more about Noema Pharma: https://noemapharma.com/

Episode 23: Autism Spectrum Disorder in TSC and TACERN

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In Episode 23 of TSC Now, host Dan Klein recognizes World Autism Month and Autism Acceptance Month by learning more about autism spectrum disorder (ASD) in tuberous sclerosis complex (TSC). ASD occurs in nearly 50% of children with TSC, significantly higher the rate in the general population (roughly 1% worldwide). Additionally, there is a very clear link between ASD and cognitive impairment in TSC.

To better understand the connection between autism and TSC, and how ongoing research can help expand our knowledge of autism not just in TSC, but more generally, Dan spoke to Mustafa Sahin, MD, PhD, (02:11) Director of both the Translational Neuroscience Center and the Multi-Disciplinary Tuberous Sclerosis Program at Boston Children’s Hospital, and Professor of Neurology at Harvard Medical School. Dr. Sahin is one of the Principal Investigators of the TSC Autism Center of Excellence Research Network, otherwise known as TACERN. TACERN is a coalition of five research hospitals: Boston Children’s Hospital, Cincinnati Children’s Hospital Medical Center, University of Alabama at Birmingham, University of California at Los Angeles and University of Texas at Houston. The group was formed in 2012 and received a grant from the NIH to better understand autism in TSC and to identify potential biomarkers that could predict what children were at higher risk of cognitive manifestations. From that initial grant 80 papers have been published on a wide range of discoveries in TSC. Dr. Sahin shares some of the discoveries from the last decade, how discoveries made in autism in TSC have wider implications for autism in general, the current progress on identifying biomarkers, and what questions remain.

Finally, we are officially two weeks away from the Step Forward to Cure TSC® Global Virtual Walk-Run-Ride on May 15 and 16, coinciding with TSC Global Awareness Day. This historic, world-wide event will bring together thousands of people from across the globe, all working together to champion the Tuberous Sclerosis Alliance’s efforts to fund groundbreaking research, offer critically needed support programs and increase awareness. Our goal is to raise $700,000 toward that mission, and there is still time for you to donate, register and fundraise to help us hit that goal. However you participate, your support makes a tangible difference in the lives of everyone with TSC. Learn the many ways you can get involved at www.stepforwardtocuretsc.org. Thank you to both the National and Local sponsors for championing this amazing event!

National Sponsors

Local Sponsors

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Episode 8: Excerpts from AES and the Current State of Epilepsy Research

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In the eighth episode of TSC Now, host Dan Klein catches up with TS Alliance partners at the annual American Epilepsy Society Meeting (AES), the largest gathering on epilepsy in the world, which was held December 6-10 in Baltimore. Seizures remain one of the most common neurological features of TSC, occurring in 85% of individuals with TSC and more than 50% of individuals with TSC who have epilepsy will not respond to standard antiepileptic medications and have intractable epilepsy. Therefore, this meeting was a good opportunity to explore the current state of epilepsy research, what gaps still exist and what’s on the horizon. Continue reading Episode 8: Excerpts from AES and the Current State of Epilepsy Research →