Tag Archives: TSC research

Episode 44: Rare Conversations

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Disclaimer: This episode is sponsored by Nobelpharma America LLC. The opinions expressed are those of the host and guest speaker individually and do not reflect the policies or positions of Nobelpharma. The following content is for informational purposes only. It is not medical advice and is not intended to recommend or suggest a course of treatment or treatment options. Be sure to talk to your doctor about your symptoms and conditions.

In this episode of TSC Now, Dan learns about the findings of an adult panel hosted by Nobelpharma America on Rare Disease Day. He also connects with an adult with tuberous sclerosis complex (TSC) who shares her story.

First, Dan chats with Justine Ravindranath, Commercial Operations Manager at Nobelpharma America (01:37). On Rare Disease Day 2023, Nobelpharma sponsored a panel discussion with a few young adults who have been diagnosed with TSC. One goal of that event was to shed light on some of the challenges young people encounter as they transition into adulthood. Justine talks about how panelists emphasized the importance of a strong support system and stability to navigate these challenges. Finally, they talk about resources available to young adults with TSC, including Face Forward with TSC, a website created by Nobelpharma America and Totally Super Cool, a children’s book about living with TSC that is available digitally on the Face Forward with TSC site.

Next, Dan connects with Iris Mustich (16:07), an adult with TSC and TSC Alliance volunteer who was awarded the Keith Hall Distinguished Leadership Award during the Volunteer Leadership Celebration earlier this year. She shares her experience growing up with TSC, connecting with other adults during the pandemic and what ultimately inspired her to volunteer. She also talks about how it felt being honored by the community, and how she applies both her lived experience and her professional background to support other adults and work to address the unmet needs of the adult community.

Resources and Links:

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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 39: Inspiring a World TSC Community

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In a special two-part episode of TSC Now, host Dan Klein recaps the 2022 World TSC Conference, which was held in Dallas, Texas July 28-31, 2022. In part two, Dan explores the history of tuberous sclerosis complex (TSC) conferences and speaks to inspiring leaders who have shaped the TSC Alliance’s past and will continue to shape it’s future.

On Saturday, July 30, 2022, during the Blue Night Dinner at the 2022 World TSC Conference, Dr. Michael and Janie Frost were presented the TSC Champion Award. Michael and Janie Frost have both devoted their careers and lives to helping individuals and their families affected by TSC.

Dr. Frost is a board-certified child neurologist and epileptologist.  He was a founding team member of Minnesota Epilepsy Group in 1991 and established the Upper Midwest TSC Clinic Without Walls after meeting Dr. John Hulbert at a TSC Alliance research conference in 2002. During his tenure as Co-Director of the TSC Clinic, he served as an investigator on several pivotal clinical trials including Afinitor, which led to its approval for treating SEGAs in 2010; Epidiolex that led to its approval in 2020; and the current PREVeNT Trial, the first preventative clinical trial for epilepsy in the United States.  In 2006, Minnesota Epilepsy Group was one of two pilot sites for the TSC Natural History Database.  Additionally, Dr. Frost served on the Clinical Consensus Group in 1998 to help establish the original TSC Clinical Consensus Guidelines and continued this role through two additional revisions with a special expertise in comprehensive and coordinated care.  Dr. Frost continues to provide his guidance as a member of the TSC Alliance Professional Advisory Board.

Janie Frost is a trained epilepsy nurse. She served as a member of the TSC Alliance Board of Directors from 2006-2011 and as Secretary in 2009.  With her expertise in clinical care, she helped organize the 1999 (Washington, DC) and 2001 (San Diego) National Family Conferences and Chaired the National and World TSC Conferences in 2006 (Chicago), 2014 (Washington, DC) and 2018 (Dallas).  These conferences are among the most prolific gatherings of the global TSC community and were successful because of her outstanding leadership and dedication.  Janie also generously served on the planning committee for the Minnesota-based Sound Bites events as well as the 35th, 40th and 45th TSC Alliance anniversary galas.

Prior to Blue Night Dan caught up with the Frosts (01:42). They talked about how family conferences have changed since the 1980s, what makes the TSC community and TSC Alliance unique in our ability to advance research and inspire others to join our cause, how they first got involved in TSC research, and what advice they would give to new parents at the start of their TSC journey.

Then, Dan catches up with Preston Fitzgerald (23:23). Preston served as a Future Leader during the 2021-2022 school year and in that role he and his cohort organized webinars and provided support to other young adults with TSC. Preston was attending the World TSC Conference for the first time and shares how strange it is meeting people in person after several years of virtual interaction during the COVID-19 pandemic, what his plans are now that he has graduated from college magna cum laude, and what advice he gives to other young adults living with TSC.

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Episode 38: Galvanizing a World TSC Community

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In a special two-part episode of TSC Now, host Dan Klein recaps the 2022 World TSC Conference, which was held in Dallas, Texas July 28-31, 2022. In part one Dan talks to two inspiring and visionary leaders in the tuberous sclerosis complex (TSC) community.

On Thursday, July 28, during the opening of the 2022 World TSC Conference in Dallas, the Ramesh and Kalpana Bhatia Family Foundation announced a new collaboration with the TSC Alliance, working together to uncover biomarkers, test new treatments and connect researchers with families to better address TSC-associated neuropsychiatric disorders (TAND), which impact nearly everyone living with tuberous sclerosis complex (TSC). The $2.5 million foundational gift is the largest single donation in the TSC Alliance’s history.

Dan first chats with Anita Bhatia, Executive Director of the Ramesh and Kalpana Bhatia Family Foundation, who announced the transformational investment to the TSC community at the conference (02:25). They discuss what it was like to announce the partnership in Dallas, what motivates her family’s generosity and how she hopes this investment will accelerate research on TSC-associated neuropsychiatric disorders (TAND) to develop new treatments and educate physicians and individuals affected by TSC so they can be better advocate for high quality care.

This new funding will create “Anya’s Accelerator,” which will focus on furthering TAND translational research. TAND includes a wide range of cognitive, behavioral and psychiatric challenges linked to the disease’s effect on brain function. The three-year “Anya’s Accelerator” research program will focus on three major goals:

  1. Developing quantifiable patient-reported outcomes for the most impactful aspects of TAND utilizing the combined expertise of individuals and families living with TSC and clinical researchers;
  2. Identifying biomarkers and predictors of specific aspects of TAND through collaborative and inclusive analysis of existing samples and data; and
  3. Improving the translatability of and testing candidate drugs in TAND-relevant animal models by incorporating biomarkers or predictors relevant to those identified in humans.

Next, Dan catches up with Pete Crino, MD, PhD, Chair of the TSC Alliance Board of Directors and the Clinic Director at the TSC Center of Excellence at the University of Maryland Medical Center (21:11). They talk about how conferences like the World TSC Conference are conduits for both the community to form new connections and get more involved in the organization, but also for researchers and clinicians to foster new collaborations and explore new avenues of research. Dr. Crino also shares why the TSC community is a vital partner in advancing TSC research and how with the support of the community and a dedicated corps of researchers and clinicians, and the infrastructure developed by the TSC community to support research, a cure for TSC is within reach.

If you weren’t able to join us in Dallas at the World TSC Conference, conference session recordings will be made available on our YouTube channel in early 2023.

Resources and Links

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Episode 34: Celebrating 20 Years of Comedy for a Cure

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In this episode of TSC Now, host Dan Klein recognizes the 20th Anniversary Comedy for a Cure® on Sunday, April 3 at the Avalon in Hollywood, California! To kick off the celebration, Dan learns about the past and present of this amazing event from some dedicated volunteers, and interviews one of this year’s honorees.

First, Dan talks to the very funny Craig Shoemaker (0:52), who serves on the Comedian Committee and helps book comedians for the event every year. Craig shares how he first got involved with the event, how this show is different from other comedy shows, how he pitches the show to prospective comedians and what ultimately gets them to stay involved year after year.

Then, Dan talks to Lisa Szilagyi (10:49), a TSC Alliance volunteer and mother to a young adult with TSC. She shares how she first got connected to the Southern California TSC community, where the idea for hosting a comedy fundraiser came from and how Comedy for a Cure has evolved over the years.

Finally, Dan talks to Jo Anne Nakagawa (21:34), TC Alliance Director of Clinical Projects and TSC Clinic Liaison. She shares how she first got involved in the pivotal vigabatrin study at UCLA, how she found her way to the TSC Alliance and what she’s most proud of accomplishing while with the organization. Jo Anne will be honored with the TSC Champion Award for her steadfast commitment to the TSC community for nearly three decades.

Learn more about this year’s Comedy for a Cure at www.ComedyforaCure.org.

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 32: The 2022 World TSC Conference

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In the first episode of TSC Now in 2022, host Dan Klein provides an overview of the upcoming 2022 World TSC Conference, co-hosted by Tuberous Sclerosis Complex International (TSCi), which will be held July 28-31, 2022 and will bring together 1,000 participants from around the globe, including families and individuals with TSC, caregivers, healthcare professionals, researchers, a wide array of exhibitors, and others. Thank you to Title Sponsor Jazz Pharmaceuticals and Presenting Sponsor Nobelpharma for making this incredible conference possible.

Dan interviews Shelly Meitzler, Director, Community Education & Resources at the TSC Alliance® and Co-Chair of the conference about how the conference is structured, what sorts of topics will be covered, what social events are happening at the conference and how people can participate both in person and remotely. Shelly also shares why she thinks this is one of the most important events the TSC Alliance hosts and reflects on some of her favorite moments from the last World TSC Conference in 2018.

Conference registration is now open, register today! The early bird registration deadline is June 1, 2022. Also, be sure to book your room with the Hilton Anatole through our link to get our special rate.

Thanks to the generous support from the Foglia Family Foundation and the TSC Alliance Endowment Fund to the Bcureful Travel Fund, the TSC Alliance will provide a limited number of scholarships in memory of Ken Johnson to individuals or families who might otherwise not be able to attend the 2022 World TSC Conference. Scholarship applications are available here. All applications are due by March 1, 2022.

Resources and Links:

Episode 28: Comedy for a Cure® 2021!

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In a very special episode of TSC Now, host Dan Klein provides a sneak peek of the 19.5 Annual Comedy for a Cure® on Sunday October 17 at 7:30 pm Eastern/ 4:30 pm Pacific! This will be a hybrid event, so if you live in Southern California and are fully vaccinated you can attend in-person at Feinstein’s at Vitello’s in Studio City, California. In person tickets are $75. Also, just like last year we will livestream the show so you can watch from the comfort of your couch! Virtual tickets are $25 per screen and we encourage you to invite your friends over and host a watch party. To help get you excited for the show, Dan spoke to the hosts and guests of this year’s event!

First, Dan talked with incredibly funny Jim O’Heir (02:17), who will be one of the hosts for Comedy for a Cure. Jim shares how he first got involved with the event in 2013 and didn’t know the name of the disease, why he continues to stay involved in any way he can, and how he connects with families with TSC that he meets at the event and online. He also sheds some light on how the Comedy Committee for the event works and makes an ultimatum for anyone not considering buying tickets to the event.

Next, Dan catches up with Wendy Liebman, the other host of the event (18:55). She shares how misplaced mail jump started her comedy career, what her experience was like competing on America’s Got Talent, and how she was able to secure the amazing lineup of comedians for the show. This year we will be honoring all the ways she has helped move our mission forward by awarding her with the TSC Champion award.

Finally, Dan spoke to Althea Grace (29:44), musician and TSC mom who burst on to the scene on American Idol Season 19.  Originally from Chicago, her journey with her two-year old daughter Lennon was highlighted and helped raise incredible awareness of TSC. She shares how her music was inspired by her experience in the hospital when her daughter needed a liver transplant, her road to getting a TSC diagnosis, and how being on the show helped her connect with other people affected by TSC across the country. For her efforts we will be honoring Althea with the Courage in Leadership Award and she will also be performing at this year’s event.

Get your Comedy for a Cure tickets now at www.comedyforacure.org!

Learn more about Althea Grace at https://altheagraceband.com/.

Episode 26: The Road to Newborn Screening in TSC

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In Episode 26 of TSC Now, host Dan Klein takes a deep dive into one of the newer and exciting frontiers in TSC research: Newborn Screening. Last Fall, the TSC Alliance hosted an Innovation Workshop that brought together TSC researchers, newborn screening experts and other nonprofits with experience advocating for other diseases to be included in the newborn screening panel to start to set the road map forward. From that meeting the TSC Alliance put a call out to our community for dried blood spots from infants with TSC in certain states to help eventually validate an assay and earlier this month we put out a call for proposals to fund research to start developing that assay. To understand where we need to go and what will be necessary to get tuberous sclerosis complex added to the recommended uniform screening panel (RUSP), Dan spoke to two people who helped organize the Innovation Workshop.

First, Dan spoke to Hope Northrup, MD (01:42), Director of the Division of Medical Genetics, Professor in the Department of Pediatrics, and TSC Clinic Director at the McGovern Medical School at the University of Texas Health Science Center at Houston. Drawing from an impressive career in both TSC and newborn screening, Hope provides a history of newborn screening both in general and in the United States, what they key tenets are to determining whether a disease should be included on the RUSP, and ultimately what the clinical and research benefits are to having TSC included.

Next, Dan spoke to TSC Alliance Chief Scientific Officer Steve Roberds, PhD (23:31), to better understand how newborn screening fits into the larger research efforts of the organization, what steps we have taken to date to move this process forward, and what potential hypotheses we are hoping to test through new research funding. Steve also shares what the timeline and next steps are for both researchers and advocates once an effective and sensitive assay is in place.

The TS Alliance is Seeking Historical Dried Blood Spots and Cord Blood from Individuals with TSC for Newborn Screening Assay Development. Was your child with TSC born in Michigan, New York, Texas, or California? The TSC Alliance is actively seeking access to newborn dried blood spots and stored cord blood from babies born after 1985. If you are interested in donating samples that are potentially stored in your state to the TSC Alliance, please email biosample@tscalliance.org.

The TSC Alliance also recently announced a new funding opportunity for Newborn Screening (NBS) Assay Development. If you are a researcher interested in learning more about this opportunity and submitting a letter of intent you can learn more at www.tscalliance.org/grants. The deadline to submit an LOI is Monday, August 23.

Resources and Links

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

Resources and Links