2017 was a very productive year for advancing the science of tuberous sclerosis complex (TSC)! A very small sampling of our scientific community’s major accomplishments are highlighted below. The TSC Alliance thanks all our grantees, collaborators, reviewers, conference attendees, International Scientific Advisory Board members, and Professional Advisory Board members for making these achievements possible.
Grants and Publications
The TSC Alliance awarded several new grants in 2017.
- Michael Evans, PhD (UCSF) received a research grant to screen for antibody fragments specific for cells lacking TSC1 or TSC2, which could be candidates leading to antibody-drug conjugates as potential ablative therapies for TSC.
- Peter Davis, MD (Boston Children’s Hospital) received a postdoctoral fellowship to examine brain network biomarkers of epilepsy severity and drug resistance in TSC.
- The LAM Foundation and TSC Alliance are co-funding a postdoctoral fellowship for You Feng, PhD (Brigham and Women’s Hospital) to examine the role of autotaxin-regulated phosphatidylcholine metabolism in TSC and lymphangioleiomyomatosis (LAM).
- Additionally, with the American Epilepsy Society, the TSC Alliance co-funded a Research Training Award for Taha Gholipour, MD (Massachusetts General Hospital), who is developing an imaging biomarker for focal epilepsy.
Preclinical Research Consortium
The TSC Preclinical Research Consortium ran ten studies in 2017, compared to just three in 2016. Some of the consortium’s early results were shared by TSC Alliance and PsychoGenics scientists at the National Organization for Rare Disorders conference, the Society for Neuroscience annual meeting, and the American Epilepsy Society annual meeting in Washington, DC. We look forward to completing even more tests in the new year.
Biosample Repository and Natural History Database
The TSC Biosample Repository ended the year with 397 biosamples: 251 blood, buccal cell, or tissue samples from individuals with TSC enrolled in the TSC Natural History Database, and an additional 146 samples from the Rare Disease Clinical Research Network’s Developmental Synaptopathies Consortium and the Preventing Epilepsy Using Vigabatrin in Infants with Tuberous Sclerosis Complex (PREVeNT) clinical trial. To learn more about available samples, please contact Jo Anne Nakagawa.
Clinics and Clinical Trials
The TSC Alliance Board of Directors recognized 16 new TSC clinics in the US and one in Mexico, for a total of 68 TSC Alliance-recognized clinics worldwide.
Several clinical trials for TSC and LAM were active in 2017, including PREVeNT, Safety Study of Sirolimus and Hydroxychloroquine in Women With Lymphangioleiomyomatosis (SAIL), and JASPER Early Intervention for Tuberous Sclerosis (JETS).
Conferences
The TSC Alliance and The LAM Foundation co-hosted the International Research Conference on TSC and LAM in Washington, DC in June. At the conference, Chris Kingswood, MB, BS, FRCP (Brighton and Sussex University Hospitals NHS Trust) and Julian Sampson, DM, FRCP, FMedSci (Cardiff University) were awarded the Manuel R. Gomez Award for their contributions to TSC science and clinical care.
Immediately prior to the conference, a group of postdoctoral fellows and early-career faculty held a professional development meeting for early-stage TSC investigators. Additionally, the TSC Alliance held a Patient-Focused Drug Development Meeting with the FDA to bring the TSC community’s voice into the regulatory process. The Voice of the Patient report from that meeting was submitted in October.