Full Program »

Managing The Complexities of TSC - From mTOR Inhibition and CBD To Technology

Administrator: Anna Jansen

Improving healthcare for Tuberous Sclerosis Complex (TSC): updated international consensus recommendations for diagnosis, surveillance and management of TSC and real-world implementation
Anna  Jansen

Tuberous sclerosis complex (TSC) is a rare genetic disorder that affects all organ systems and has a significant impact on quality of life. To optimize care, international consensus recommendations were developed and published in 2013 and updated in 2021. The recommendations provide a framework for the optimal management of individuals with TSC and their families across the lifespan, from recent diagnosis to ongoing surveillance and management. In this presentation we will focus on recommendations for the neurological aspects of TSC in a multidisciplinary, holistic context. 
In an effort to translate the international recommendations into real-world implementation actions, Tuberous Sclerosis Complex International (TSCi), a consortium of organizations that supports people with TSC worldwide, developed the Improving Care Project. They identified the need to better understand existing resources, what people and caregivers value in TSC care, key gaps between need and reality, and ways in which these gaps can be addressed by advocacy organizations worldwide. Three priority areas for action were identified: (1) implementation of the guidelines; (2) access to TSC expertise; and (3) health care coordination and integration. We will discuss how working with different stakeholders including patient advocacy groups ensures that advances in TSC research benefit people living with TSC worldwide. This approach can serve as potential model for other neurodevelopmental disorders.
 

New Developments in the Treatment of TSC-related Epilepsy and TSC-Associated Neuropsychiatric Disorders
Darcy Krueger

More than 80% of individuals with tuberous sclerosis complex (TSC) will develop epilepsy during childhood. The majority will experience the first seizure before their first birthday and go on to develop medically refractory epilepsy. Closely correlated with uncontrolled epilepsy is the high risk of TSC-Associated Neuropsychiatric Disorders (TAND). 
Over the past decade, collaborative teams of basic and translational scientists, clinicians, pharmaceutical and government partners around the world have worked to better understand the underlying pathogenic processes responsible for TSC-related epilepsy and TAND.  
In this symposium, we will review recent insights into the underlying neuronal networks disrupted by tubers, the hallmark pathogenic brain lesion of TSC, and how these disruptions are associated with the development of seizures and TAND. We will then focus on the implications of these findings in understanding the results of recently completed landmark epilepsy and TAND prevention clinical trials with the antiseizure medication vigabatrin, EPISTOP (NCT02098759) and PREVeNT (NCT02849457). We will then focus on current clinical trials using sirolimus to target the mTOR pathway directly, STOP2 (NCT04595513), STOP2B:TSC-STEPS (NCT05104983), ViRap (NCT04987463) and RaRE-TS (NCT05534672), as well as provide updates to other ongoing studies and clinical trials in TSC with cannabidiol, ganaxalone, basimglurant, JASPERTM, Regulating TogetherTM, and epilepsy surgery.

 

International consensus recommendations for the identification and treatment of TSC-Associated Neuropsychiatric Disorders (TAND)
Petrus De Vries

Tuberous Sclerosis Complex (TSC) is associated with a wide range of physical manifestations for which clinical recommendations for diagnosis and management have been established. TSC is also associated with a wide range of TSC-Associated Neuropsychiatric Disorders (TAND) that are typically under-identified and under-treated. To date no international consensus recommendations for the diagnosis and management of TAND have been prepared.
TANDem is an international, interdisciplinary and participatory project with 24 consortium members, including TSC family representatives, from all World Health Organization (WHO) regions. Project aim 2 was generation of consensus recommendations for TAND. In the absence of internationally-adopted standard methodologies and checklists for the generation of clinical practice recommendations, we developed our own systematic procedure for evidence review and consensus-building.
At the heart of the consensus recommendations are ten core principles surrounded by cluster-specific recommendations for each of the seven natural TAND clusters identified in the literature and a set of wraparound psychosocial cluster recommendations. This presentation will summarise the process, key recommendations, and actions for implementation and dissemination.
The consensus recommendations should provide health, educational and social care teams, and families who live with TSC with a systematic framework to approach the identification and treatment of TAND.

 

Empowering Families Through Technology: a Mobile-Health Project to Reduce the TAND Identification and Treatment Gap (TANDem)
Tosca Heunis

TSC-Associated Neuropsychiatric Disorders (TAND) significantly impact the mental health and wellbeing of individuals with TSC and their caregivers around the globe, especially in low-and-middle-income countries. This project was developed in partnership with families to reduce the TAND identification and treatment gap through the use of technology. The project aims were 1) the development and validation of a self-report quantified version of the TAND Checklist (TAND-SQ) and building it into a mobile application, 2) generation of consensus clinical recommendations for the identification and treatment of TAND, to be incorporated as a TAND toolkit in the app, and 3) establishment of a global TAND consortium.
Development of the TAND-SQ Checklist, the TAND App, consensus recommendations and the TAND toolkit was a highly iterative and participatory process that incorporated 24 consortium members including family representatives, technology and clinical experts from all WHO regions. 
We will present key findings across the project aims, focusing on how technology was used in a participatory way to empower families across the globe.
The TANDem project has the potential to transform the global TSC community by empowering families living with TSC through an easily accessible digital solution to allow them to document their own TAND needs and link these to an evidence-informed toolkit to enhance personalised healthcare.