The STXBP1 Foundation and Children’s Hospital of Philadelphia Announce Phase 2 of the STARR Study for Clinical Trial Readiness, and Clinic Expansion
Philadelphia, PA - July 18, 2024 - At the STXBP1 Summit+ conference this week, the STXBP1 Foundation and Children’s Hospital of Philadelphia are announcing the start of Phase 2 of the STARR natural history study, which is focused on developing clinical trial readiness for STXBP1-related disorders. STXBP1 disorder is a rare epileptic and neurodevelopmental condition caused by changes in the STXBP1 gene. With an estimated incidence rate of 1:30,000, it is one of the most common causes of genetic epilepsies and neurodevelopmental disorders.
The first phase of the STARR study was launched one year ago in July 2023. In the first year, the study enrolled over 100 STXBP1-RD patients across four clinical sites: Children’s Hospital of Philadelphia, Children’s Hospital Colorado, Baylor College of Medicine / Texas Children’s Hospital and Weill Cornell Medicine. The age range of patients seen so far in the study has ranged from 11 months to over 40 years. The STARR study is currently funded through a transformational campaign by the STXBP1 patient community, FLOURISH, led by the Finn Beaubien family, and by the ENDD Center at Penn Medicine and Children's Hospital of Philadelphia.
Phase 2 of the study is the longitudinal phase, with the goals of understanding disease progression over time and identifying clinical endpoints, both critical aspects of preparing for clinical trials. In Phase 2, two additional hospitals will be added as STARR clinic sites: Cincinnati Children’s Hospital and Stanford Children’s Health. The Cincinnati Children’s Hospital site is being funded by the Glazer Family whose daughter is living with an STXBP1-related disorder.
“The STARR study is enabling us to better understand STXBP1-related disorders to inform the design of clinical trials,” commented Ingo Helbig, MD, Co-Director of the Center for Epilepsy and Neurodevelopmental Disorders (ENDD) at Penn Medicine and Children’s Hospital of Philadelphia, and STARR study Principal Investigator. “In Phase 1, we have already generated initial data and ensured a strong operational foundation for the study. In Phase 2, we will follow participants over time to understand development, and assess potential measures for future clinical trials.”
“Hitting our goal of 100 participants in the first year of the STARR study underscores how activated our community is to prepare for clinical trials,” said Charlene Son Rigby, President and Co-Founder of the STXBP1 Foundation. “We are thrilled to be able to expand the STARR clinical sites to Cincinnati Children’s Hospital and Stanford Children’s Health. These additional clinics will make travel to participate in STARR less burdensome for many of our families, who may be traveling with medically fragile children.”
More information on the STARR study and how to enroll is available on the STXBP1 Foundation website. In addition to clinic funding, the STXBP1 Foundation is providing a Patient Assistance Program to defray travel-related expenses.
The STARR study complements and is harmonized with the protocol of the STXBP1 natural history study being launched by the European STXBP1 Consortium (ESCO) in Europe.
Phase 2 of the STARR study is being announced at the 6th annual STXBP1 Summit+ Family Meeting, being held on July 18-21 at the Drexelbrook Event Center, just outside of Philadelphia. The STXBP1 Summit+ conference will bring researchers, clinicians, and families together to review and understand the latest work on STXBP1-related disorders. Families will also have networking and social opportunities.
About STXBP1 Foundation
STXBP1 Foundation is dedicated to finding a cure for STXBP1-Related Disorders while improving the lives of our patients and families. Founded in 2017, STXBP1 Foundation is a parent-led advocacy organization. STXBP1 Disorder is a rare epileptic and neurodevelopmental disorder caused by changes in the STXBP1 gene. With an incidence of approximately 1 in 30,000 live births, STXBP1 Disorder is one of the most common genetic causes of epilepsy. For more information, contact info@stxbp1disorders.org and visit https://www.stxbp1disorders.org/
