Fragile X Research Q&A: Dr. Berry-Kravis on the RECONNECT Trial скачать в хорошем качестве

Fragile X Research Q&A: Dr. Berry-Kravis on the RECONNECT Trial

In this FRAXA webinar, Elizabeth M. Berry-Kravis, MD, PhD discusses what is publicly known about Harmony Biosciences’ Phase 3 RECONNECT trial of ZYN002 (cannabidiol gel) in Fragile X syndrome. Dr. Berry-Kravis notes she has not seen the full dataset; comments reflect the press release and investigator briefings. The primary endpoint was not met amid a large placebo effect. What you’ll learn • What a “large placebo effect” means in Fragile X trials and possible drivers (expectations, added clinical attention, and visit frequency). • Why outcome measures must be more FXS-specific and how the field is working with regulators on better tools. • What subgroup analyses (age, methylation, cognitive level) could explore, once available. • How methylation was assessed in RECONNECT (qPCR; context vs. Southern blot and broader methylation profiling). • How these results compare with prior Fragile X trials and what that means for interpreting endpoints. • Timelines and paths forward: implications for approvals, the role of autism indications, and newer trials using more FXS-relevant measures (e.g., zatolmilast). • Reasons for hope: encouraging Phase 2 signals (function, cognition, EEG) and a growing pipeline, including molecular and genetic approaches. • Support for families: coping with difficult news while staying engaged in research that improves outcome measures and future trials. Chapters 00:00 Intro & context 01:32 Placebo effect—what and why 06:25 What was learned from RECONNECT 11:15 Methylation assay overview 13:27 Fit with prior FX research 16:25 Approvals & timelines; measures for FXS 28:22 Zatolmilast (PDE4 inhibitor) update 31:02 Takeaways & hope for families 37:10 What’s next: pipeline & genetic strategies 45:55 Closing remarks & community thanks FRAXA’s mission is to find effective treatments and ultimately a cure for Fragile X syndrome. We directly fund research grants and fellowships at top universities around the world. We partner with biomedical and pharmaceutical companies, large and small, to bridge the gap between research discoveries and actual treatments. Treatments for Fragile X are likely to help people affected by autism, Alzheimer’s, and other brain disorders. To learn more about FRAXA's Fragile X syndrome research, to get involved with Fragile X awareness and events or to donate to FRAXA research, visit www.fraxa.org Let's Connect Facebook:   / fraxaresearch   Instagram:   / fraxaresearch   LinkedIn:   / fraxa-research-foundation   Reddit:   / fragilexreseach   Website: https://www.fraxa.org