Clinical Research

The TSC Alliance is committed to advancing research for the tuberous sclerosis complex (TSC) community to deliver meaningful treatments and improve lives.  

Clinical research has transformed the course of TSC, turning scientific discoveries into meaningful advances in diagnosis, treatment, and care. This progress has been driven by collaboration—researchers sharing expertise, resources, and ideas to address the complex challenges of TSC together. This has led to three FDA-approved drugs for TSC, with more promising therapies in the pipeline. 

That spirit of partnership was formalized in 2012 with the establishment of the TSC Clinical Research Consortium (CRC) TSC Clinical Research Consortium (CRC), creating a coordinated framework to launch studies more efficiently and accelerate progress for the TSC community. The CRC has led some of the most impactful studies in TSC, including the first ever preventative clinical trial in epilepsy and TSC in the US, and they continue to collaborate on cutting edge studies in autism and epilepsy. 

Over the years, the TSC Alliance has invested in the research resources and infrastructure to meaningfully accelerate promising therapies through the drug discovery process. As such, our mission has evolved from supporting studies to actively driving clinical research. Through the creation of the Clinical Research Network (CRN) in 2025, we have taken the lead on convening the academic laboratories, industry leaders, specialized TSC Clinics, and TSC community members to streamline clinical trials to bring new therapies to market. We are also investing in technology to match individuals with trials suited to their unique journeys to encourage more people to participate in clinical research.  

The TSC community plays a crucial role in advancing TSC research, and the TSC Alliance has established a research strategy that centers the needs and experiences of people living with TSC in everything we do. 

With the TSC Alliance as a central hub bringing together clinical researchers, drug development specialists, and the TSC community, the Clinical Research Network builds off the legacy of collaboration amongst TSC researchers. This will cultivate even more research opportunities and accelerate the development of new therapies for the TSC community.”

Elizabeth Thiele, MD, PhD, Co-Chair, Clinical Research Network, Clinic Director at the Herscot Center for Tuberous Sclerosis Complex at Massachusetts General Hospital

Clinical Research Network

The Clinical Research Network (CRN), with the TSC Alliance serving as a central hub for patient-focused clinical research, leads and facilitates the development of new diagnostics, therapies, interventions, processes, and other research advances, to improve the quality of life of individuals with TSC.   

The CRN advances TSC clinical research by: 

  • Cultivating partnerships: Secures research opportunities with industry and academic sponsors. 
  • Expanding study scope: Addresses diverse organ systems across the lifespan. 
  • Guiding priorities: Helps the TSC Alliance focus its research strategy. 
  • Broadening access: Enables a larger network of TSC clinics to participate in trials. 
  • Centering patients: Includes the patient voice in protocol development and review. 
  • Optimizing recruitment: Streamlines site selection and builds a contact registry to boost enrollment. 

The CRN Steering Committee, co-chaired by Drs. Elizabeth Thiele and Martina Bebin, reflects diverse clinical expertise, research experience, and community perspectives for insight into patient-centered clinical research development. 

Current CRN Steering Committee Members

Martina Bebin, MD, MPA, University of Alabama at Birmingham, CRN Co-Chair

Elizabeth Thiele, MD, PhD, Massachusetts General Hospital, CRN Co-Chair

Dean Aguiar, PhD, TSC Alliance CRN Co-Leader

Heather Radtke, MS, CGC, TSC Alliance CRN Co-Leader

Jamie Capal, MD, Cincinnati Children’s Hospital Medical Center

Peter Crino, MD, PhD, University of Maryland, Baltimore

Daniel Curry, MD, Texas Children’s

Thomas Darling, MD, PhD, Dermatology

Mary Kay Koenig, MD, UTHealth Houston

Darcy Krueger, MD, PhD, Cincinnati Children’s Hospital Medical Center

Vicki Meloney, Community Representative

Joel Moss, MD, PhD, NIH

Jason Panchal, Community Representative

Elahna Paul, MD, PhD, Massachusetts General Hospital

Ilana Wiesel, Community Representative

For Clinicians and Researchers

The CRN is open only to TSC Alliance-recognized institutions. If you are a TSC clinician or researcher, and would like to participate in the CRN, please request access to the members-only site here.

For Industry Partners

Companies interested in furthering their clinical development collaboratively with the TSC Alliance CRN may join as Industry Partner Members.

For more information please contact Dean Aguiar, PhD at daguiar@tscalliance.org.

 

The TSC Clinical Research Consortium has been the cornerstone of Federally funded research efforts in the US for the past decade. Only through the collaborative research efforts of the TSC clinics and partnership with the TSC Alliance have we begun to understand the complexities of the neurological manifestations of this rare disease. It is an exciting time for the consortium as it expands to include additional TSC clinics across the US. This will facilitate an array of clinical research initiatives that encompass more individuals with TSC and various aspects of their condition.”

Martina Bebin, MD, MPA, University of Alabama at Birmingham

Clinical Research Consortium


With a goal 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 (CRC). This team led the implementation of multiple impactful clinical studies and has expanded to include several other TSC Clinic sites to provide broader access to TSC research opportunities.

Currently active CRC-led trials:

find tsc clinical research studies and trials

Acknowledgements

The TSC Alliance appreciates the generous donations from the Gerry and Bill Cowlin Foundation who helped support the early establishment of the data coordinating center and dedicated clinical coordinator time. Ongoing support is provided through the Gerry and Bill Cowlin Foundation, Jim and the late Andrea Maginn, as well as the Foglia Family Foundation and Diane McSwain for their support of the Bcureful® Travel Fund which provides assistance for families to travel to clinical studies. Additional funding through a gift from Carol Herscot support TSC Match, an upcoming contact registry that allows individuals to voluntarily and confidentially provide specific health information to be notified about research studies that are relevant to them. 

CRC clinical trials have been funded primarily by the National Institutes of Health and the Food and Drug Administration with supplemental funding from the TSC Alliance.