To initiate and implement clinical studies more quickly and effectively, researchers from five TSC Clinics together with the TSC Alliance formed the TSC Clinical Research Consortium in 2012. Since then, TSC Clinical Research Consortium investigators have been awarded over $29 million by the National Institutes of Health (NIH) through competitive grant processes. The TSC Alliance personnel serve on the leadership team for the Consortium, actively track enrollment, and raise community awareness to help identify potential participants for clinical studies. Also, the TSC Alliance collects blood samples from participants in all ongoing studies for inclusion in the TSC Biosample Repository.

The consortium’s first study identified an EEG biomarker detectable before onset of the first clinical seizure to identify infants with TSC at high risk of developing epilepsy. This finding enabled the PREVeNT trial, Preventing epilepsy using vigabatrin in infants with TSC, the first preventative trial in the United States for any form of epilepsy. In PREVeNT, infants with TSC receive regular EEG monitoring, and those who develop EEG abnormalities will be placed on either vigabatrin or placebo. Any infant who subsequently develops clinical seizures will be immediately placed on standard treatment. This trial will determine whether treatment with vigabatrin prior to the onset of clinical seizures in TSC is beneficial to children’s developmental and neurologic outcomes. Currently, 62 infants with TSC are enrolled at 13 sites, and another 18 potential participants have been identified. Given this accelerated rate of recruitment, we expect the trial to be fully enrolled this summer, for more information on the trial and recruitment click here.

The consortium has two additional ongoing studies. The autism biomarker study is following 165 infants with TSC to the age of 3 years, using MRI and neuropsychiatric assessments to find ways to identify children at risk of developing autism at a very young age to enable early intervention. A study of TSC in the Developmental Synaptopathies Consortium extends the autism study to children over the age of three and is part of a larger network studying Phelan-McDermid Syndrome and PTEN disorders, genetic diseases which share some key manifestations with TSC, notably autism and epilepsy or tumor growth.