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In a special episode of TSC Now, Dan interviews Bridgett Langstaff, mom to Jude, a 17-year-old living with tuberous sclerosis complex (TSC) and epilepsy. Bridgett shares Jude’s diagnosis story and how they ultimately made their way to Mass General Hospital and Dr. Thiele. She also talks about Jude’s ongoing struggle with seizures, from infantile spasms as a baby, to partial seizures, to tonic clonic seizures as he started going through puberty, and she details their journey to achieve seizure control through multiple medications, the ketogenic diet, and surgery. Finally, she shares what it’s like as a parent to witness a prolonged seizure (one lasting longer than 3 minutes) and how and when they decide to administer rescue medication to stop a seizure.
This podcast was sponsored by UCB Biopharma, in an effort to raise awareness of prolonged seizures. UCB was not involved in the content development for this podcast.
UCB is currently running the STARS study, a clinical trial researching an investigational medication for people who experience prolonged epileptic seizures (i.e. lasting more than 3 minutes) who are over the age of 12. The STARS Study is testing an inhaler containing an investigational drug that has been designed to potentially stop a prolonged seizure once it has begun. If you are interested in learning more, visit www.starsepilepsystudy.com to learn more or contact a Patient Navigator to better understand this study at 470-523-2502.
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November is Epilepsy Awareness Month, and to help raise awareness, TSC Now host Dan Klein talks to Starr Phipps, an adult living with drug-resistant epilepsy. She shares her story, including how she faced stigma as a child, how her lack of control over her seizures impacted her emotional and physical well-being, and how continuing to push for treatments changed her life and inspired her to help others.
This episode is sponsored by LivaNova. The opinions expressed are those of the host and guest speaker individually and do not reflect the policies or positions of Livanova. 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.
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In the first episode of TSC Now in 2025, host Dan Klein tackles the challenging topic of what happens when a clinical trial fails and how failed clinical trials inform future research in tuberous sclerosis complex (TSC).
Dan interviews Mary Kay Koenig, MD, Professor of Child Neurology and Associate Vice Chair for Clinical Research at University of Texas McGovern Medical School in Houston and Co-Director of the TSC Center of Excellence at the University of Texas Health Science Center at Houston. Dr. Koenig provides insights on what risks are involved in participating in a clinical trial and what questions caretakers should ask during the consenting process, how trials can fail and what happens after a trial ends, how families participating in a failed trial can continue to receive medication in certain situations, and how all trials, regardless of their result, help move our understanding of TSC forward.
Interested in learning more about TSC clinical trials? Learn more about available trials and how to enroll: https://www.tscalliance.org/get-involved/participate-in-research/
If you or your loved one is struggling to access medication you need please do not hesitate to reach out to our support navigators. You can email them at [email protected] or call our support line: 240-463-7250.
Subscribe to TSC Now: https://tsc-now.blubrry.net/subscribe-to-podcast/
Watch this episode of TSC Now on YouTube: https://youtu.be/YBQP534C75U
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In this episode of TSC Now host Dan Klein is joined by Bruce Hainan and Jim Kotsailidis from Nobelpharma America, LLC and Shelly Meitzler, TSC Alliance Director of Outreach and Support, and mom to Ashlin and Mason with TSC. Shelly shares her experience looking for housing for her eldest daughter Ashlin, a dependent adult with tuberous sclerosis complex (TSC). She then shares the questions parents should ask when vetting potential housing options for their children. Bruce and Jim share additional resources parents can use to help them find the options available to them and talk about the work Nobelpharma is doing meeting with both residential housing facilities to educate them about TSC and with TSC clinics to develop heat maps of available resources and alleviate some of the burden parents shoulder when looking for options.
This episode is sponsored by Nobelpharma America LLC. The opinions expressed are those of the host and guest speakers 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.
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In honor of National Epilepsy Awareness Month, TSC Now host Dan Klein is joined by Steven Wolf, MD, Director at the TSC Clinic Without Walls serving NYC, Westchester, Hudson Valley & Connecticut. Dr. Wolf also serves as the Director of Pediatric Epilepsy at Boston Children’s Health Physicians of New York and Connecticut. Dr. Wolf specializes in child neurology with a special emphasis on epilepsy.
Dr. Wolf provides an overview of drug-resistant epilepsy (DRE), outlines the risks of under or untreated seizures, including sudden unexpected death in epilepsy (SUDEP), and talks about treatment options beyond medication.
Additional Resources:
Epilepsy/seizure disorders in TSC: https://www.tscalliance.org/understanding-tsc/clinical-manifestations/brain-neurological-function/epilepsy-seizure-disorders/Child Neurology Foundation Epilepsy Education Hub: https://www.childneurologyfoundation.org/epilepsy-education-hub/?gad_source=1&gclid=Cj0KCQiAo5u6BhDJARIsAAVoDWsnleWiozC7siAXUMT7DaEkFtvnH328mEN4WprD595yT7t8IXDsGQEaAozfEALw_wcBEpilepsy Foundation: https://www.epilepsy.com/LivaNova sponsored this episode. The opinions expressed are those of our guest speakers and host individually and do not reflect the policies or positions of LivaNova. 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.
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2024 marks the 50th anniversary of the TSC Alliance, which was founded by four moms in Southern California in 1974. To celebrate the anniversary of the organization, throughout the year TSC Now will feature interviews with some of the people who helped shape this organization.
In this episode host Dan Klein had the distinct pleasure of talking to Shonnie Johnson, a former TSC Alliance board chair, longtime volunteer and supporter of the organization, and grandmother to Annie Johnson, an adult living with TSC.
Learn more about the five-decade history of the TSC Alliance: https://www.tscalliance.org/spotlight-on-tsc-alliance/
Join us in celebrating 50 years by attending our 50th Anniversary Gala in New York City on Friday, October 25, 2024: https://tscalliance.schoolauction.net/50forward/
Can’t make it to the Gala? You can still be part of recognizing 50 years by purchasing a tribute ad or honorary name listing in the 50th Anniversary Commemorative Program Book: https://tscalliance.schoolauction.net/50forward/register/ticket_sales
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In a final bonus episode in 2023, host Dan Klein connects with Gloria Triebenbach, Chair of the TSC Alliance of the Pacific Northwest and Step Forward to Cure TSC Walk Chair for the walk in Renton, Washington. Gloria describes herself as a mother of an adult daughter with TSC, honorary mother of a 2nd adult daughter with TSC, and mom of 2 adults without TSC.
“I am an advocate, a wife, a grandma and a nurse. Our family knows good days and we know terrible, horrible days that start with the worst that tuberous sclerosis complex (TSC) can hand out. It takes a huge dedicated team of people to work on issues as big as TSC and my goal is to not stop until TSC is defeated. My family and I give everything, but up!”
Gloria was honored as a Volunteer of the Year at the Volunteer Appreciation Celebration in Washington, DC, part of the TSC Alliance’s annual Volunteer Leadership Summit.
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In a bonus episode, host Dan Klein connects with Kristen Moore, Vice Chair of the TSC Alliance of the Carolinas and Step Forward to Cure TSC Walk Chair for the Carolinas Walk. Kristen and her husband, Douglas, moved to Charlotte in 2012 and welcomed their TSC Warrior Jackson to the world in 2019. Jackson was diagnosed with tuberous sclerosis complex (TSC) when he started having seizures at seven weeks old. He underwent laser ablation brain surgery at 17 months. Kristen is a fierce advocate for Jackson and is committed to raising awareness, advocating and fundraising for a better future, services, research, and ultimately a cure, for him and others in the TSC community. Earlier this year, Kristen was honored as a Volunteer of the Year at the Volunteer Appreciation Celebration in Washington, DC, part of the TSC Alliance’s annual Volunteer Leadership Summit.
Kristen shares her family’s diagnostic journey, what motivated her to volunteer, and how the TSC community helped her navigate the waves of this disease.
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In this episode, host Dan Klein learns about Pretola Global Health and Consulting Limited and how they advocate for a better future for people living with epilepsy, learning disability and autism around the world. Earlier this year, the TSC Alliance partnered with Pretola on the 4th edition of the Epilepsy Assessment and Management Course, an online course for physicians in low and middle income countries around the world to learn about epilepsy and related comorbidities. This years course featured a lesson on tuberous sclerosis complex (TSC) and featured presentations by Dr. Pradnya Gadgil in India, Professor Anna Jansen from Belgium and Professor Petrus De Vries from South Africa.
Dan talks to Tolu Olaniyan, Bsc LD Nursing, MSc Epilepsy, Founder and CEO of Pretola. She shares how her upbringing inspired her to start the organization, what some of the major barriers are to treatment in low income countries and how through educating frontline physicians she is trying to overcome those barriers.
Learn more about Pretola Global Health Consulting Limited: https://www.pretolaghc.net/
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In this episode of TSC Now, host Dan Klein interviews Karen Keough, MD, a child neurologist at Child Neurology Consultants of Austin. Dr. Keough defines drug resistant epilepsy (DRE), explains how lack of seizure control can impact someone’s quality of life and shares some treatment options beyond medication, including surgery, dietary therapies and neuromodulation devices. This episode is sponsored by LivaNova.
Additional resources
TSC Alliance: https://www.tscalliance.org/about-tsc/signs-and-symptoms-of-tsc/brain-and-neurological-function/epilepsy-and-seizure-disorders/Epilepsy Foundation of America: https://www.epilepsy.com/International League Against Epilepsy: https://www.ilae.org/Child Neurology Consultants of Austin: https://www.childneurotx.com/conditions/epilepsy-seizures/This episode is sponsored by:
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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.
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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:
Learn more about Face Forward with TSC: https://faceforwardwithtsc.com/Request a digital copy of Totally Super Cool: https://faceforwardwithtsc.com/resources/Download the Navigating the transition years of TSC Guide: https://www.tscalliance.org/wp-content/uploads/2016/11/NavigatingTransitionYearsOfTSC11-22WEB.pdfLearn about resources for Young Adults from the TSC Alliance: https://www.tscalliance.org/individuals-families/young-adults/Learn about our Adult Initiative and resources for adults with TSC: https://www.tscalliance.org/individuals-families/adults/Register for the 2023 Step Forward to Cure TSC Global Hybrid Walk-Run-Ride: https://give.tscalliance.org/event/2023-step-forward-to-cure-tsc-r-global-hybrid-walk-run-ride/e433629Learn about the 2023 Regional TSC & LAM Conference Series: https://www.tscalliance.org/individuals-families/2023conferences/Sponsored by:
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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
Learn more about the TSC-STEPS trial: https://tscsteps.org/Learn more about the MILED trial: https://www.thelamfoundation.org/MILEDLearn more about the Developmental Synaptopathies Consortium: https://www1.rarediseasesnetwork.org/cms/dscLearn more about the Bcureful Travel Fund at the TSC Alliance: https://www.tscalliance.org/individuals-families/bcureful-travel-lodging-assistance/Learn more about clinical trial participation: https://www.tscalliance.org/individuals-families/tsc-clinical-trials/Check out TSC clinical trials that are currently recruiting: https://trials.tscalliance.org/ -
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
Learn more about International Epilepsy Day: https://internationalepilepsyday.org/Learn more about Seizure Action Plans and Seizure Action Plan Awareness Week: https://seizureactionplans.org/This episode is sponsored by:
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In the final episode of TSC Now in 2022, host Dan Klein connects with two incredible advocates for individuals with disabilities and learns how families can find support to help them with both everyday and long-term decisions for their loved ones.
First, Dan chats with Kelly Piacenti, Head of Special Care at MassMutual (01:24). Kelly shares how her experience managing care for her son with special needs helps her support other parents as they make legal decisions for their children. She debunks common myths about the cost of financial planning, when to start and the need for a special needs trust. She also talks about the importance of a letter of intent as a first step to making a plan and shares what information should be included in a letter of intent. To learn what SpecialCare at MassMutual can do for your family, visit their website or contact Kelly Piacenti at [email protected]. You can get additional resources for estate and financial planning in the Resources section of the TSC Navigator.
Next, Dan talks to Megan Cortjens, Executive Director of Our Place (27:37). Our Place is an online community where families with disabilities can connect with other families, share their experiences, find resources in their community, and get assistance from experts on a wide range of topics, including taxes, IEPs, travel, waiver applications and more. Megan shares how the site came to be and she is trying to break silos of information by creating a single place where the disability community can find resources on whatever their biggest challenges are. She shares about some of the major features of the site, including the Knowledge Center featuring easy-to-understand videos on various topics, and the Medicaid map where users can find Medicaid providers in their area. You can learn more about Our Place by going to joinourplace.com.
Links and Resources
Learn more about SpecialCare and MassMutual: https://www.massmutual.com/lp/specialcareWatch a Lunch & Learn interview with Kelly: https://youtu.be/6lfttMG0L2sWatch a presentation from Kelly on Guardianship Options, Financial Planning and Government Benefits from our 2021 E-Webinar Series: https://www.youtube.com/watch?v=18ppVaLQZko&ab_channel=TSCAllianceLearn more about Our Place: https://www.joinourplace.com/Review our aging caregiver checklist: https://www.tscalliance.org/wp-content/uploads/2021/09/Aging-Caregiver-Checklist-.pdfExplore our Navigation Guides to understand what to expect at each stage of life: https://www.tscalliance.org/individuals-families/publicationsandsample-letters/Learn more about special needs planning from the Special Needs Alliance: https://www.specialneedsalliance.org/Learn more about special needs trusts: https://www.natlawreview.com/article/understanding-special-needs-trustsThis podcast is sponsored by:
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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 [email protected]. Learn more about Nobelpharma America at https://www.nobelpharma-us.com/.
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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:
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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:
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;Identifying biomarkers and predictors of specific aspects of TAND through collaborative and inclusive analysis of existing samples and data; andImproving 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
Learn more about the $2.5 million gift from the Bhatia Family Foundation: https://www.prnewswire.com/news-releases/tsc-alliance-and-ramesh-and-kalpana-bhatia-family-foundation-announce-new-tsc-research-collaboration-301594331.htmlLearn more about the Ramesh and Kalpana Bhatia Family Foundation: http://www.rkbhatiafoundation.org/Learn more about TAND: https://www.tscalliance.org/about-tsc/signs-and-symptoms-of-tsc/brain-and-neurological-function/tand/Learn more about the TSC Center of Excellence at the University of Maryland Medical Center: https://www.umms.org/ummc/health-services/neurology/services/tuberous-sclerosisThis podcast is sponsored by:
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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 LAMHave an FEV1 greater than 70% predictedAre not currently taking sirolimusDuring 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 visitsAnswer questions about breathing, fatigue and quality of lifeTake one capsule every day (1 mg sirolimus or a sugar pill) throughout the studyRecord their pill taking and any side effects in an electronic diaryParticipants will receive:
Physical exams, pulmonary function tests, a chest x-ray, and laboratory tests free of chargeStudy drug (either 1 mg sirolimus or placebo) throughout the studyReimbursement for travel expenses to attend each study visitTo get more information or to see if you may be eligible, please contact Susan McMahan Sellers, BSN, RN at [email protected] or by calling 513-558-4376.
Resources and Links
Learn more about the MILED trial at clinicaltrials.gov: https://clinicaltrials.gov/ct2/show/NCT03150914Learn about the trial on The LAM Foundation’s website: https://www.thelamfoundation.org/miledLearn more about #WWLAM: https://thelamfoundation.org/WorldwideLAMAwarenessMonthLearn more about LAM in TSC: https://www.tscalliance.org/about-tsc/signs-and-symptoms-of-tsc/lungs/This podcast is sponsored by:
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In this episode of TSC Now, host Dan Klein recognizes TSC Awareness Month and the 10th Annual TSC Global Awareness Day! He starts by providing an update on the Step Forward to Cure TSC® Global Hybrid Walk-Run-Ride. Fundraising pages are open until the end of the year, help us reach our goal at stepforwardtocuretsc.org. You can watch the #StepForward4TSC Lunch and Learns on YouTube and Facebook. Be sure to also check out our event montage.
Next, Dan talks to two TSC dads who are both registered for the 2022 World TSC Conference. First, he interviews Ary Agami, President of the TSC Alliance of Mexico. Ary shares how hard it was getting treatment for his daughter in Mexico, how he connected with other families to build a network of support, and how attending the last World TSC Conference gave him the opportunity to connect with doctors, researchers and bring that knowledge and those resources back to Mexico.
As part of the 2022 World TSC Conference there will be a free session for Spanish-speaking families. This session will feature a panel of experts who will provide resources and information to the Spanish-speaking TSC community on new clinical consensus guidelines for TSC. The meeting will be held on Friday, July 29 from 5:30 to 7 pm Central at the Hilton Anatole in Dallas, Texas. Register here.
Then, Dan talks to Guillermo Henrici, a TSC dad in Atlanta, GA, who shares the story of his daughter Lily’s journey with TSC. He recounts how he connected with the TSC Alliance and what it meant to him to attend the 2018 World TSC Conference and meet other families like his. Thank you Ary and Guillermo for graciously sharing your stories and helping raise awareness of TSC both in Mexico and here in the United States.
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 30, 2022 to get the best price!
Register Today!
Resources and Links
Re-Watch the #StepForward4TSC Lunch and LearnsYouTube: https://www.youtube.com/playlist?list=PLPofxH9_dB4-H7mevqffK0CMU0VllsB7NFacebook: https://www.facebook.com/watch/100064422440464/746801986357756View the Step Forward to Cure TSC® Global Hybrid Walk-Run-Ride event montage: https://youtu.be/MtMN-XC7DdsDonate to the Step Forward to Cure TSC® Global Hybrid Walk-Run-Ride: https://give.tscalliance.org/event/20th-anniversary-step-forward-to-cure-tsc-r-global-hybrid-walk-run-ride/e389093Learn more and register for the 2022 World TSC Conference: https://web.cvent.com/event/6f99d393-3d9c-4d2c-a09c-a71a78986884/summaryRegister for a FREE Session on Tuberous Sclerosis Complex in Spanish: https://docs.google.com/forms/d/e/1FAIpQLScZdyFdjsZQUq2-xCRSRyIiXi7q7WmMMtnBxBWmvyREVZkNDw/viewformThis podcast is sponsored by:
- Visa fler
