Tag Archives: medical research

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.

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Episode 40: Totally Super Cool!

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In a special bonus episode of TSC Now, host Dan Klein learns about a new children’s book called Totally Super Cool, which was developed by Nobelpharma America, LLC.

This Podcast is being sponsored by Nobelpharma America LLC. The opinions expressed are those of the speakers individually based on their experience and do not reflect the policies or positions of Nobelpharma. The following content is for informational purposes only. The book being discussed is fictional and may not reflect the experiences of an actual TSC patient. Individual symptoms, treatment, and experiences related to TSC may vary.

The story follows a day in the life of two kids, Tori and Tommy, who have TSC and facial angiofibroma. The sister-brother duo share experiences familiar to kids with TSC, including answering questions about facial angiofibroma and visiting different healthcare specialists. What makes this story unique is how the narration accompanies their day, which finds fun words for the acronym TSC.​ In the end, Tori and Tommy see how their family and friends care for them and want them to Take Special Care. Totally Super Cool aspires to show children with TSC that their accomplishments are what make them special and unique.

To learn more about the book and the process to develop it, Dan talks to Doug Loock, VP Head of Commercial Operations at Nobelpharma America, LLC and Jonathan Goldstein, a former future leader for the TSC Alliance who participated in a panel during the development of the book (01:21).

For more information on how to get a copy of Totally Super Cool, email NPA-corporate-info@Nobelpharma-US.com. Learn more about Nobelpharma America at https://www.nobelpharma-us.com/.

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.

This podcast is sponsored by:

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

This podcast is sponsored by:

Episode 37: The MILED Trial and the Future of LAM Research

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In this episode of TSC Now, host Dan Klein celebrates Worldwide LAM Awareness Month (#WWLAM) and raises awareness of lymphanhgioleiomyomatosis (LAM) and a pivotal clinical trial in LAM that is enrolling right now.

Dan interviews Frank McCormack, MD, Professor and Director of the Division of Pulmonary, Critical Care and Sleep Medicine at University of Cincinnati and former Scientific Director of The LAM Foundation for 25 years. Dr. McCormack is the lead investigator for the Multicenter Interventional Lymphangioleiomyomatosis Early Disease (MILED) Trial, designed to answer the question of whether we should be starting sirolimus at low doses earlier in the course of LAM, before symptoms develop and while lung function is still normal, similar to the manner in which we treat diabetes and high blood pressure early to prevent future heart and kidney complications..

Dr. McCormack shares how the previous MILES trial which led to the approval of sirolimus for the treatment of LAM in 2015 gave women a safe and effective treatment and created the foundation for the current trial looking at whether earlier intervention may potentially prevent serious loss of lung function for women with LAM. He shares the eligibility criteria for the trial, the risks and benefits of participation and how those interested in participating can enroll. He also discusses the future of LAM research and how new tests, preclinical models and drug candidates are needed to accelerate therapies that don’t just impede the growth of LAM cells, but actually kills the cells to help restore lost lung function.

Researchers are currently seeking 10 additional participants for the MILED Trial.

You may be eligible if you:

  • Are an adult woman with LAM
  • Have an FEV1 greater than 70% predicted
  • Are not currently taking sirolimus

During the study, participants will:

  • Attend 8 study visits over 2 years (about one visit every 4 months)
  • Complete blood tests, a physical exam, and pulmonary function tests at visits
  • Answer questions about breathing, fatigue and quality of life
  • Take one capsule every day (1 mg sirolimus or a sugar pill) throughout the study
  • Record their pill taking and any side effects in an electronic diary

Participants will receive:

  • Physical exams, pulmonary function tests, a chest x-ray, and laboratory tests free of charge
  • Study drug (either 1 mg sirolimus or placebo) throughout the study
  • Reimbursement for travel expenses to attend each study visit

To get more information or to see if you may be eligible, please contact Susan McMahan Sellers, BSN, RN at SUSAN.MCMAHAN@UC.EDU or by calling 513-558-4376.

Resources and Links

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Episode 35: The Past, Present and Future of Autism Research in TSC

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In this episode of TSC Now, host Dan Klein recognizes World Autism Month by taking a deep dive on the past, present and future of autism spectrum disorder (ASD) research in TSC. Dan talks to Shafali Jeste, MD, Chief of Neurology and Las Madrinas Chair at the Children’s Hospital of Los Angeles and Professor of Neurology and Pediatrics at Keck School of Medicine of USC.

Dr. Jeste shares what first sparked her interest in autism and her early work on the characterization of autism at Boston Children’s Hospital, subsequent studies looking for biomarkers of autism, and how the discovery of those biomarkers paved the way for current early intervention studies, including the JASPER Early Intervention for Tuberous Sclerosis Complex (JETS) Study. She also talks about how the JETS Study pivoted to remote participation to help enrollment, and how researchers need to do more to reduce barriers for clinical trials and recruit diverse participation.

Enrollment is ending soon on the JETS Study, learn more about the study and how to participate here: https://www.jetsstudy.org/

Register now for the 20th Anniversary Step Forward to Cure TSC® Global Hybrid Walk-Run-Ride on May 14-15, 2022! 

As part of the weekend’s festivities we will be hosting three in-person events at West Chester, PA; Carrollton, TX; and Irwindale, CA! Simply choose the location you’d like to attend when you register. You can also participate virtually in your neighborhood, around your house or wherever you are!

Learn more at stepforwardtocuretsc.org.

You don’t want to miss the  2022 World Tuberous Sclerosis Complex (TSC) Conference, July 28-31, 2022, at the Hilton Anatole Hotel in Dallas, TX, co-hosted by Tuberous Sclerosis Complex International (TSCi). The conference 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. Register by June 1, 2022 to get the best price!

Register Today!

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 31: The Present and Future of TSC & LAM Research

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In the final episode of TSC Now in 2021, host Dan Klein recaps the 2021 Virtual International TSC & LAM Research Conference: Driving Discoveries Beyond Boundaries, presented by Greenwich Biosciences and the Rothberg Institute of Childhood Diseases and co-hosted by the TSC Alliance® and The LAM Foundation. The conference brought together 179 people from 18 countries including researchers with a wide array of specialties and representing everything from basic to clinical science, who took part in plenary sessions, oral presentations, posters, and discussions around cross-cutting topics, including big data and clinical translation.

Dan chats with conference co-chairs Nishant Gupta, MD, Assistant Professor of Medicine at the University of Cincinnati, Director of the LAM Clinic Network, and Scientific Director of the LAM Foundation, and Rebecca Ihrie, PHD, Associate Professor of Cell and  Developmental Biology and Neurosurgery at Vanderbilt University about their impressions of the conference overall, what topics they found most interesting and how the TSC and LAM research community can build off the momentum of the conference and foster the next generation of TSC and LAM researchers. Dan also asks them what areas of TSC and LAM research they find most exciting and what they think the future holds for the field.

Resources and Links: