Externally-Led Patient Focused Drug Development (EL-PFDD) Meeting for Phelan-McDermid syndrome (PMS)

Описание: The EL-PFDD for PMS was held on November 8, 2022, and we are continuing to collect family stories through December 7 or inclusion in the very important Voice of the Patient Report! Go to https://www.cureshank.org/live-el-pfd... and comment to share your family's story!

The EL-PFDD was a powerful opportunity for families of loved ones living with PMS to share, before the FDA, how symptoms have impacted their lives and what treatments would be most meaningful. The Voice of the Patient report will compile and organize all comments received, as well as the content of the EL-PFDD meeting, for delivery to the FDA.

The FDA will use the EL-PFDD meeting and report to provide context when evaluating upcoming applications for clinical trials for PMS. It will also be shared widely with industry, researchers, investors, and any other stakeholders interested in developing treatments for PMS.

Phelan-McDermid syndrome is a devastating genetic disorder involving changes to the SHANK3 gene, including severe intellectual disability, seizures, autism, communication deficits, skills regression, gastrointestinal dysfunction, sleep disturbance, psychiatric dysfunction, and many other symptoms that have immensely negative consequences for those living with the disorder.

0:00 start
15:15 Live stream start
15:20 Welcome & Overview, Geraldine Bliss, CureSHANK
21:02 Opening Remarks, Dr. Wilson Bryan, FDA
26:20 Background on Phelan-McDermid syndrome, Dr. Alex Kolevzon, Seaver Autism Center at the Icahn School of Medicine at Mount Sinai
39:38 Introduction and Meeting Overview, James Valentine, Hyman, Phelps & McNamara
44:00 Audience Demographic Polling, James Valentine, Hyman, Phelps & McNamara
55:30 Session 1 Introduction: Phelan-McDermid Syndrome Patient Voices: Symptoms and Daily Impacts
57:48 Panelist presentations
1:24:43 Audience polling and discussion
2:47:11 Lunch break
3:15:44 Session 2 Introduction: Phelan-McDermid Syndrome Patient Voices: Current and Future Treatments
3:19:04 Panelist presentations
3:43:58 Audience polling and discussion
5:05:36 Summary Remarks, Larry Bauer, Hyman, Phelps & McNamara
5:14:45 Closing and Next Steps, Dr. Kate Still, Phelan-McDermid Syndrome Foundation