As part of our 45th Anniversary Celebration, during the Fund a Cure portion of the live auction we raised funds to support two important research initiatives that we believe will alter the course of this disease: The Newborn Screening Initiative and the TSC-Associated Neuropsychiatric Disorders (TAND) Initiative.

TSC-Associated Neuropsychiatric Disorders (TAND)

TSC-associated neuropsychiatric disorders (TAND) — a constellation of symptoms including autism, developmental delay, learning and memory problems, behavioral issues and sleep difficulties — affect all ages and are often the most disruptive manifestations of TSC for individuals and family members.

Currently, TAND is the least likely aspect of TSC to be adequately controlled by existing treatments. To address this unmet need, the TSC Alliance and TSC research community are working to better understand TAND across several fronts:

  • Members of the TSC Preclinical Consortium are working to model aspects of TAND in mice and understand how findings related to TAND in mouse models can be translated to impact in humans.
  • Two ongoing clinical studies in TSC are focused on the benefits of early behavioral intervention for infants at risk of developing autism.
  • One breakout group at the research conference focused on clinical trial design for neurological aspects of TSC. Based on experience with past and ongoing clinical studies of TAND, the group identified a number of tools that may improve success of future studies.
  • Finally, an international consortium will soon launch the TANDem project, aimed first at understanding the prevalence and severity of different aspects of TAND through a checklist app, then generating clinical consensus guidelines for the identification and treatment of TAND.

Newborn Screening and Biomarkers

Heart tumors are often present in infants with TSC and are frequently detected through prenatal ultrasound,
particularly in the third trimester. At birth, ash leaf spots on the skin are also common features in TSC. Increased recognition of these features has led to more frequent early diagnosis, which provides the opportunities for interventions to prevent development of epilepsy, autism and other devastating manifestations. But many infants are not diagnosed until after infantile spasms or other severe seizures have begun. Development and implementation of a newborn screening assay could identify infants with TSC well before epilepsy starts.

Because no two people with TSC are affected in the same way, even with newborn screening, biomarkers are needed to predict which individuals are at highest risk of developing each manifestation. For instance, identification of an EEG biomarker before the onset of epilepsy has led to the PREVeNT clinical trial to determine if vigabatrin can prevent the development and consequences of seizures. This trial is ongoing and serves as a potential blueprint for future preventative trials. Through the Natural History Database and TSC Biosample Repository, the TSC Alliance enables research to identify additional biomarkers for use in clinical trials and to enable additional preventative interventions.

These clinical trials will provide the scientific rationale and justification for a newborn screening assay for TSC, which may ultimately lead to all newborns being screened for TSC.

In 2020, the TSC Alliance will host a Newborn Screening Initiative Meeting to begin this undertaking.