Findings of an interim analysis of the phase 3 GWPCARE6 open-label extension trial (NCT02544750) of GW Pharmaceuticals’ cannabidiol (CBD; Epidiolex) were accepted for presentation at the American Academy of Neurology (AAN) 2020 Annual Meeting that demonstrated the therapy’s well-tolerated profile in patients with tuberous sclerosis complex (TSC) across a long-term treatment period.

Adverse events (AEs) were documented in 93% of patients, with 15% experiencing a serious AE, and 6% discontinuing due to AEs. The most common AEs, occurring in 20% of patients, were diarrhea, seizure, and decreased appetite, which were observed in 42%, 22%, and 20%, respectively. There was 1 death in the study deemed unrelated to treatment. The authors also noted that elevated alanine aminotransferase (ALT)/aspartate aminotransferase (AST) more than 3 times the upper limit of normal were reported in 8.5% (n = 17), with 12 of those patients on concomitant valproate.

To gain some outside perspective on how these data were interpreted in the clinical community, NeurologyLive spoke with Steve Chung, MD, neurologist, Banner-University Medicine Neuroscience Institute, who was not affiliated with the study, who shared his thoughts on the data and discussed what promise CBD might hold in the treatment of TSC.

Le Bonheur Neurologist and TSC Center of Excellence Co-Director James Wheless, MD, discusses the treatment options available for seizures associated with tuberous sclerosis complex (TSC).

Our nationally-recognized pediatric nephrology program is taking great strides to combat Tuberous Sclerosis Complex, a rare genetic disorder that creates small tumors on the major organs of the body. Dr. Alejandro Quiroga, nephrology division chief, talks about our Tuberous Sclerosis Complex clinic and how several specialties work together to effectively treat patients with this condition.

Gabrielle Rushing, PhD, TSC Alliance, introduces the TSC Alliance Whole Genome Sequencing (WGS) Pilot Study. The project aimed to expand the genetic dataset in the TSC Alliance’s Natural History Database (NHD), a valuable resource for researchers of tuberous sclerosis complex (TSC). DNA samples from 20 patients were submitted for WGS. Of these, a known disease variant in TSC1/2 was found in 13 patients. In a further 6 patients, novel variants were identified. Only one sample had no clear variant in TSC1/2. Patients who opted to participate in WGS were also given the option to receive their results alongside genetic counseling. This pilot study has led to the establishment of a larger WGS project that will aim to sequence 500 patients with TSC, to provide a rich dataset for researchers to investigate novel genetic factors and genotype-phenotype correlations. This interview took place at the American Epilepsy Society (AES) Annual Meeting 2022 in Nashville, TN.

These works are owned by Magdalen Medical Publishing (MMP) and are protected by copyright laws and treaties around the world. All rights are reserved.