IDefine Partners with UT Southwestern to Develop First Gene Therapy for Kleefstra Syndrome
Key Insights
IDefine (search) and UT Southwestern Medical Center (search) announced a two-year collaboration to develop gene therapy for Kleefstra syndrome (search), a rare neurodevelopmental disorder with no approved treatments.
The research program will evaluate EHMT1 (search) gene replacement therapy using next-generation CNS-targeted delivery technology, led by Dr. Steven Gray at UT Southwestern.
IDefine (search) will provide approximately $310,000 in funding to support the pre-clinical research program, which is expected to continue through April 2028.
IDefine (search) – The Kleefstra Syndrome (search) Foundation has announced a landmark research collaboration with UT Southwestern Medical Center (search) to advance development of a potential gene therapy for Kleefstra syndrome (KS), a rare neurodevelopmental disorder that currently has no approved treatments. The partnership represents the first major effort to develop a targeted therapy for this devastating condition.
Research Program Details
The two-year research program will be led by Steven Gray, PhD, professor at UT Southwestern and director of the UTSW Gene Therapy Program. The study will evaluate the feasibility and safety of EHMT1 (search) gene replacement therapy using next-generation gene delivery technology specifically designed to target the central nervous system (CNS).
"This landmark research collaboration represents a meaningful step forward in our mission to accelerate research that can lead to a first treatment for Kleefstra syndrome (search)," said Eric Scheeff, PhD, chief scientific officer of IDefine (search). "We are especially honored to support and partner with Dr. Steven Gray and the UT Southwestern Gene Therapy Program in this effort. Their expertise and dedication give us the very best chance to identify an eventual treatment that can make a meaningful difference for patients and families."
Understanding Kleefstra Syndrome
Kleefstra syndrome (search) is caused by changes or loss of the EHMT1 (search) gene, which plays a critical role in brain development and function. The condition presents with a wide range of symptoms, including intellectual disability (search), speech impairment, low muscle tone, seizures (search), and behavioral challenges, with severity ranging from mild to profound.
The lack of approved treatments for KS has left patients and families with limited options for managing the complex symptoms of this neurodevelopmental disorder.
Gene Therapy Approach
Dr. Gray emphasized the potential of modern gene therapy techniques for addressing complex neurodevelopmental conditions. "Advances in gene therapy and CNS-targeted delivery technologies are creating new opportunities to develop potential treatments for complex neurodevelopmental disorders like Kleefstra syndrome (search)," he said. "Through this collaboration, we aim to evaluate a carefully designed EHMT1 (search) gene replacement approach while prioritizing safety and appropriate regulation of gene expression. We are grateful to partner with IDefine (search) in support of this important research."
Funding and Timeline
Under the agreement, IDefine (search) will provide approximately $310,000 in funding to support the pre-clinical research program. The collaboration is expected to continue through April 2028, allowing researchers sufficient time to thoroughly evaluate the gene therapy approach and establish safety parameters for potential future clinical development.
The partnership between IDefine (search) and UT Southwestern represents a significant milestone in Kleefstra syndrome (search) research, bringing together patient advocacy expertise with cutting-edge gene therapy technology to address an urgent unmet medical need in the rare disease community.