IDefine and UT Southwestern will assess a preclinical EHMT1 gene replacement strategy for Kleefstra syndrome. If the approach advances, future development would likely require a more detailed natural history framework, validated or fit-for-purpose clinical outcome measures, and careful selection of age groups most likely to benefit. In neurodevelopmental disorders, the timing of therapeutic intervention may be especially important because some neurologic features arise during early brain development. The collaboration also illustrates the growing role of patient advocacy organizations in de-risking early rare disease research. However, the clinical implications should be viewed cautiously until preclinical results are disclosed and reviewed. At present, the program establishes a research pathway for EHMT1 replacement rather than evidence of therapeutic benefit. IDefine and UT Southwestern announce research collaboration to advance gene therapy for rare disease Kleefstra syndrome. IDefine–The Kleefstra Syndrome Foundation and UT Southwestern Medical Center have entered a 2-year research collaboration to evaluate a preclinical EHMT1 gene replacement strategy for Kleefstra syndrome, a rare neurodevelopmental disorder with no appoved disease-modifying therapy.1 The program is expected to run through April 2028 and will be led by Steven Gray, PhD, professor at UT Southwestern and director of the UTSW Gene Therapy Program. “This landmark research collaboration represents a meaningful step forward in our mission to accelerate research that can lead to a first treatment fo FDA guidance for rare disease gene therapy development emphasizes that small populations, limited natural history data, and uncertainty about clinically meaningful end points can complicate preclinical-to-clinical translation.4

/PRNewswire/ -- Despite overwhelming support for clinical trials among primary care providers (PCPs), a new national survey from Patient Advocate Foundation... WASHINGTON, May 12, 2026 /PRNewswire/ -- Despite overwhelming support for clinical trials among primary care providers (PCPs), a new national survey from Patient Advocate Foundation (who announced a strategic merger with PAN Foundation in March 2026) highlights a significant disconnect between positive PCP attitudes and consistent patient engagement. While 66 percent of PCPs say it is their responsibility to discuss clinical trials with eligible patients, 43 percent believe their patients would not be interested and 41 percent don't think their patients would be eligible for many trials. When PCPs do have conversations about clinical trials, they are most often in response to patient requests (67 percent), when there is a lack of response to standard treatment (65 percent), or when disease progresses (55 percent). The research, conducted online by The Harris Poll, surveyed 503 actively practicing, board-certified U.S. PCPs ages 18+ between March 5–18, 2026. The survey points to information, structural, and workflow challenges that shape how and with whom clinical trial conversations occur in routine care—ultimately influencing patient access and participation. PCPs identify supports that would make it easier to discuss trials with patients, which could help translate willingness into action, including clinical trial education (75 percent), ready-to-share patient materials (66 percent), and dedicated trial coordinators (58 percent).