IDefine – The Kleefstra Syndrome Foundation, an Atlanta-based nonprofit patient advocacy organization, and UT Southwestern Medical Center announced a two-year pre-clinical research collaboration to evaluate EHMT1 gene replacement therapy as a potential treatment for Kleefstra syndrome, a rare neurodevelopmental disorder with no approved therapies. The program carries significance for the rare disease field because it brings a structured, funded research effort to a condition that has historically lacked industry investment, with IDefine committing approximately USD 310,000 to support the work through April 2028.
The collaboration centers on Steven Gray, PhD, professor at UT Southwestern and director of the UTSW Gene Therapy Program, who will lead feasibility and safety evaluation of EHMT1 gene replacement using next-generation CNS-targeted gene delivery technology. Kleefstra syndrome results from loss or mutation of the EHMT1 gene, which encodes a histone methyltransferase critical to brain development; the pre-clinical program will assess whether restoring EHMT1 expression via gene delivery can address the underlying molecular deficit. The modality and specific vector platform were not disclosed in detail, though the program references CNS-targeted delivery consistent with adeno-associated virus approaches Gray’s lab has applied to other neurodevelopmental indications.
The USD 310,000 in research funding from IDefine to UT Southwestern represents the full disclosed value of the agreement, structured as a research grant spanning the two-year pre-clinical program. IP ownership and any future commercialization economics would be governed by terms not included in the announcement.
IDefine has established a pattern of funding external research collaborations to build the Kleefstra syndrome pipeline from the ground up. In March 2026, the foundation announced a separate collaboration with the University of Chicago‘s Dickinson Lab to develop programmable RNA translational activators targeting EHMT1 haploinsufficiency, indicating a parallel-track strategy across gene therapy and RNA-based modalities. Gray’s UTSW program is itself a documented platform for CNS gene therapy licensing; Dallas-based Taysha Gene Therapies (Nasdaq: TSHA) holds an exclusive option to license UTSW AAV9-based programs for CNS diseases originating from Gray’s lab, establishing the program as a repeat source of pre-clinical assets for rare neurological conditions.
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