Tag Archives: seizures

Episode 21: Noema, Basimglurant and a New Clinical Trial for Seizures in TSC



In a very special early episode of TSC Now, host Dan Klein recognizes International #EpilepsyDay and the first day of the first-ever Seizure Action Plan Awareness Week. In November, a collaboration of three non-profit organizations, the Tuberous Sclerosis Alliance (TS Alliance), the Dravet Syndrome Foundation and the 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 (#SAPAW2021) to coincide with International Epilepsy Awareness Day on February 8.

This month’s episode is sponsored by Noema Pharma and explores their upcoming 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, 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 (08:14). 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 (11:32), to learn what the clinical trial will look like, who can enroll, how Noema will determine whether the drug is efficacious and safe, and where people can find more information once the trial is launched. Steve also talked about our partnership with Noema and how they worked with the TS 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 starting in spring 2020 and will recruit participants across US and Canada, Europe and Australia. For more information including the list of sites participating in the study, please check the TS Alliance website or contact Jo Anne Nakagawa at jnakagawa@tsalliance.org or (301) 562-9890. We will share more information about the trial and how you can enroll on social media, our website and in our E-Newsletter, TSC Matters as it becomes available. Subscribe to TSC Matters to not miss any updates. 

Resources and Links
Learn more about International Epilepsy Day: https://internationalepilepsyday.org/
Learn more about the Seizure Action Plan Coalition and #SAPAW2021: https://seizureactionplans.org/
Read a press release about this new coalition: https://www.prnewswire.com/news-releases/new-coalition-launches-to-promote-importance-of-seizure-emergency-plans-301164188.html?tc=eml_cleartime
Learn more about epilepsy in TSC: https://www.tsalliance.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
Subscribe to TSC Matters: https://www.tsalliance.org/tsc-matters-opt-in/

This episode is sponsored by:

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


Episode 19: Infantile Spasms Awareness Week (#ISAW2020)



In a very special early edition of TSC Now, host Dan Klein explores the topic of infantile spasms (IS) as Infantile Spasms Awareness Week (ISAW), held annually December 1-7 to raise awareness of IS with both parents/caregivers and frontline physicians, comes to a close. To learn more about infantile spasms go to www.infantilespasms.org.

First, Dan talks to Kelly Knupp, MD, Associate Professor of Pediatrics and Neurology at the University of Colorado Anschutz Medical Campus and member of Infantile Spasms Action Network (ISAN) (01:23). She discusses what infantile spasms are, what they look like and are sometimes misdiagnosed as, and why they are so serious to the cognitive development of babies. She also explains what tests need to be done to confirm a diagnosis, what first line treatments are available, and why early intervention is so important. Finally, she offers advice to parents who suspect their child might be having spasms, and urges all parents who are concerned to first take a video of the strange behavior to share with their doctor and then don’t delay in seeking care despite the ongoing COVID-19 pandemic.

Then, Dan talks to Ashley Callahan of St. Augustine, Florida (14:53). In June when her daughter Kaylee was 4 months old, Ashely noticed Kaylee making strange repetitive eye movements, which prompted a trip to the emergency room despite the COVID-19 pandemic and eventually a diagnosis of infantile spasms. Ashley shares what led to the decision to take Kaylee to the emergency room, what it was like getting a diagnosis of IS, and how she has found support through groups online. She also shares her advice for other parents who may be worried about their child and encourages them to trust their instincts.

Throughout Infantile Spasms Awareness Week, the TS Alliance and other ISAN partners have made a coordinated effort to develop resources for families and to generate coverage of this important initiative. Below are some links to some of these resources and coverage of #ISAW2020. Our deepest thanks to everyone who helped raise awareness of infantile spasms this year.

Resources and Links


Episode 15: Managing Behaviors During COVID-19 (Part 2) + A New Partnership with SeizureTracker



In episode 15 of TSC Now, host Dan Klein continues exploring how to manage harmful and disruptive behaviors associated with TSC-associated neuropsychiatric disorders (TAND) during the ongoing COVID-19 pandemic. Then he explores a new partnership between the TS Alliance and SeizureTracker and how it’s advancing both our understanding of TSC and epilepsy.

First, Dan talks with Tanjala Gipson, MD, Director of the TSC-Associated Neuropsychiatric Disorders Clinic at Le Bonheur Children’s Hospital and Director of the Neurodevelopmental Disabilities Clinic at the Boling Center for Disabilities (01:20). She discusses what factors about the pandemic are causing TAND-related behaviors to be more frequent and severe, how parents can begin to address these behaviors, and what parents should do to manage their own anxiety and prepare for an extended period of time at home during the pandemic. She also answers questions from parents about how to deal with sleeplessness, emotional outbursts, and transitioning from one activity to another. See below for more TAND and COVID-related resources.

Then Dan chats with Rob Moss, creator and co-founder of SeizureTracker.com, and Gabrielle Rushing, PhD, Associate Director of Research at the Tuberous Sclerosis Alliance (24:33). They discuss a new data sharing partnership that will allow SeizureTracker users to connect their seizure data with the TS Alliance Natural History Database, how individuals with TSC can participate in the TSC Biosample Repository Project, and the role patients and patient-reported outcomes play in research and our understanding of TSC and epilepsy. They also talk about how SeizureTracker and the Natural History Database and TSC Biosample Repository are moving research forward and how these tools will continue to evolve in the future. Learn more about how you or your loved one can participate in the TSC Biosample Repository Project.

Resources
TS Alliance TAND web page featuring recordings of TAND webinars: https://www.tsalliance.org/about-tsc/signs-and-symptoms-of-tsc/brain-and-neurological-function/tand/
Managing Anxiety During COVID-19 Webinar Recording: https://www.youtube.com/watch?v=m4rHD0Zhdpc
TS Alliance COVID-19 & TSC Resources: https://www.tsalliance.org/individuals-families/covid-19/
TAND 101: The TAND Checklist Webinar Recording: https://www.youtube.com/watch?v=BXO9MopLg9k&feature=emb_logo

TS Alliance and SeizureTracker Partnership Announcement: https://www.prnewswire.com/news-releases/tuberous-sclerosis-alliance-and-seizure-tracker-partner-to-promote-data-sharing-and-biosample-collection-301079871.html?tc=eml_cleartime
Seizures and Tuberous Sclerosis Complex web page on SeizureTracker.com: https://www.seizuretracker.com/SeizureSuccess/TSC_Tuberous-Sclerosis-Complex/
TSC Biosample Repository and Natural History Database web page: https://www.tsalliance.org/individuals-families/biosample-repository-and-natural-history-database/


Episode 10: Expanding Coverage and Ensuring Access to Medications



In episode 10 of TSC Now, host Dan Klein talks to Darcy Krueger, MD, PhD, TSC Clinic Director at Cincinnati Children’s Hospital. They discuss the recent FDA approval of the Sabril label expansion, the study he led that served as supplemental material for that application, and what this process can teach us about the role of physicians, patients and advocacy organizations play in ensuring access to life-saving medications for people with rare diseases like TSC. Finally, they discuss how the TS Alliance can begin to develop evidence-based standards of care.

Then in a brand new segment, Dan catches up with Shelly Meitzler, TS Alliance Regional Program Manager East. They talk about how she first got involved with the TS Alliance, how she draws strength from supporting other families and individuals affected, and why she is running the 2020 TCS New York City Marathon with Team TSC. The TS Alliance has nine spots available for people interested in running the marathon and fundraising with Team TSC, to learn more and apply visit: https://www.tsalliance.org/Team-TSC/ or email Shelly at smeitzler@tsalliance.org.


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



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


Episode 7: Common Parent/Caregiver Challenges and Advocating for Your Health



In the seventh episode of TSC Now, host Dan Klein explores common challenges parents, caregivers and those affected by tuberous sclerosis complex (TSC) face when managing their health and seeking care from physicians.

First, he has a conversation with Paul Mullin, MD, Director of Neurology and Epilepsy at Medical Associates of the Hudson Valley (01:22). They discuss the results of a survey conducted by Aquestive Therapeutics on some of the most common challenges parents face when trying to administer medication to children with epilepsy and how new technology can help alleviate some of these challenges. They also talk about what parents and caregivers can do to be proactive in addressing seizures and working with their doctor. Dr. Mullin also shares several online resources where parents can get accurate and reliable information and advice, including the Epilepsy Foundation, the National Organization for Rare Disorders (NORD), the National Institute of Neurological Disorders and Stroke (NINDS) and the LGS Foundation.

Next, Dan talks to Peter Crino, MD, PhD, Professor and Chair of the Department of Neurology at the University of Maryland School of Medicine, Director of the TSC Center of Maryland, and a member of the TS Alliance Board of Directors (20:12). We discuss the process of transitioning a patient with TSC from pediatric to adult care, some of the challenges associated with that transition, and how parents and those affected can start preparing to mitigate those challenges. We also talked about how adults with TSC can best manage their care and Dr. Crino emphasizes the importance of following the Consensus Guidelines for Diagnosis, Surveillance and Management of TSC to ensure that different manifestations of the disease are being monitored and managed appropriately throughout one’s lifetime. Finally, we discuss the role telemedicine may play in expanding access to TSC experts.

This episode was sponsored by:

Resources:

Epilepsy Foundation website: https://www.epilepsy.com/

NORD website: https://rarediseases.org/

NINDS website: https://www.ninds.nih.gov/

LGS Foundation website: https://www.lgsfoundation.org/

TSC Center of Maryland website: https://www.umms.org/ummc/health-services/neurology/services/tuberous-sclerosis

Consensus Guidelines for Surveillance and Treatment: https://www.tsalliance.org/individuals-families/treatment-guidelines/consensus-guidelines-for-diagnosis-surveillance-and-management-of-tsc/

Transition resources: https://www.tsalliance.org/individuals-families/young-adults/