Tag Archives: Newborn Screening

Episode 43: The TSC-STEPS Trial

March 15, 2023Episodesclinical research, clinical trials, epilepsy, epilepsy medication, epilepsy research, medical research, medications, Newborn Screening, rare disease, seizures, TAND, TSC, TSC Alliance, TSC research, tuberous sclerosis, tuberous sclerosis complextsc-now

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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/MILED
Learn more about the Developmental Synaptopathies Consortium: https://www1.rarediseasesnetwork.org/cms/dsc
Learn 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/

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

April 30, 2022Episodesautism, autism spectrum disorder, behaviors, clinical research, coronavirus, COVID-19, medical research, Newborn Screening, rare disease, TSC, TSC Alliance, tuberous sclerosis, tuberous sclerosis complextsc-now

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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/

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 26: The Road to Newborn Screening in TSC

July 29, 2021Episodesadvocacy, assay development, clinical research, clinical trials, epilepsy, funding opportunity, medical research, Newborn Screening, patient advocacy, rare disease, seizures, TSC, TSC Alliance, TSC research, tuberous sclerosis, tuberous sclerosis complextsc-now

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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

Learn more about the Recommended Uniform Screening Panel: https://www.hrsa.gov/advisory-committees/heritable-disorders/rusp/index.html

Episode 9: The State of the TS Alliance

January 22, 2020EpisodesAfinitor, biosample repository, Comedy for a Cure, March on the Hill, Newborn Screening, research, Step Forward to Cure TSC, strategic plan, TAND, TSC, tuberous sclerosis, Tuberous Sclerosis Alliance, tuberous sclerosis complex, upcoming eventstsc-now

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In episode 9 of TSC Now, host Dan Klein talks to Tuberous Sclerosis Alliance President and Chief Executive Officer Kari Luther Rosbeck. They discuss her favorite memories from the organization’s 45th anniversary year in 2019, the major goals and initiatives for the organization in 2020, the newest members of the team, and upcoming events at the TS Alliance. Be sure to sign up for the TS Alliance bimonthly e-newsletter, TSC Matters, to stay up-to-date on everything going on at the TS Alliance throughout the year. You can subscribe to TSC Matters at https://www.tsalliance.org/tsc-matters/.

Want to submit a future episode topic for consideration? Send us an email at tscnow@tsalliance.org.

Upcoming Events

March on Capitol Hill, TS Alliance Board and Endowment Board Meeting, and Volunteer Leadership Summit – March 3-5, 2020 in Washington, DC.
First Step Forward to Cure TSC Walk – Saturday, April 4, 2020 in AZ.
Comedy for a Cure 2020 – Sunday, April 5, 2020 in Los Angeles, CA. Learn more: https://tsalliance.schoolauction.net/comedy2020/
Sound Bites Minnesota – Friday, May 8, 2020 in Golden Valley, MN.
Newborn Screening Workshop – June 2-3, 2020 in Silver Spring, MD.
Regional TSC & Lam Conferences (dates tentative and subject to change)
- June 20, 2020 – Memphis, TN
- September 26, 2020 – Gainesville, FL
- October 24, 2020 – Denver, CO

Resources and Links:

Sign up for the TS Alliance e-newsletter,TSC Matters: https://www.tsalliance.org/tsc-matters/
Learn about donating to the TSC Biosample Repository: https://bit.ly/2RDcpuA
TS Alliance 5-Year Strategic Plan: https://www.tsalliance.org/about-us/our-vision/
45th Anniversary Gala Photos: https://45gala.shutterfly.com/
45th Anniversary Gala Videos: https://bit.ly/2G7PzpJ
TSC Now Episode 3: The 2019 International TSC Research Conference: https://bit.ly/2GccP5I
2019 Regional Conference Presentations: https://bit.ly/2sRhaIK
Important Information About Changes to Access and Availability of Generic Everolimus and Afinitor: https://www.tsalliance.org/everolimus/
TAND Initiative Resources:
- TSC Now Episode 6: TSC-Associated Neuropsychiatric Disorders (TAND): https://bit.ly/38wyRfV
- TAND Checklist: https://bit.ly/38pmzG3
Meet Our New Team Members: https://www.tsalliance.org/about-us/our-team/