Stay up-to-date on the cutting edge of science and medicine in the Phelan-McDermid syndrome field! Dr. Lauren Schmitt, the Chief Science Officer of the Phelan-McDermid Syndrome Foundation (PMSF), sits down with top experts driving groundbreaking research, treatment, and care. These engaging conversations deliver the latest breakthroughs in a way that's easy to understand, keeping our PMSF community informed and empowered. You won't want to miss this!
Measuring Meaningful Progress in Phelan-McDermid Syndrome: Updates from the Inchstone Project
How do we measure meaningful progress in individuals with Phelan-McDermid syndrome, especially when traditional developmental assessments often miss important milestones? How do we capture meaningful change in clinical trials, especially when traditional measures are not sensitive enough to things that actually matter to our families?
To help answer these questions, Dr. Lauren welcomes Dr. Natasha Ludwig from Kennedy Krieger Institute and Dr. Mary Wojnaroski from Nationwide Children’s Hospital to discuss the Inchstone Project and its latest project, Parents Speak Survey 2 (PSS2).
Learn how this innovative research is working to develop more inclusive outcome measures that capture meaningful changes in cognition, communication, behavior, and development across rare neurogenetic conditions, including Phelan-McDermid syndrome. Our guests discuss the importance of caregiver perspectives, collaboration with the FDA, and how better assessments can improve clinical trial readiness.
We also explore how families can participate in PSS2, a remote, study open to individuals ages one and older with Phelan-McDermid syndrome!
Learn more and participate: https://inchstoneproject.org/pss2/ (https://inchstoneproject.org/pss2/)
23 Sept 2026
The PMS DataHub: What Families Need to Know
What is the PMS DataHub? And why does participation matter?
In this episode of the Phelan-McDermid Syndrome Podcast, Dr. Lauren is joined by Kathy Fiscus, PMSF Data Manager and co-principal investigator of the PMS DataHub, to explain how this important resource supports both families and Phelan-McDermid syndrome research.
Kathy breaks down the difference between the current PMS DataHub and the legacy Phelan-McDermid Syndrome International Registry (PMSIR), explains how genetic reports are curated, and shares how researchers can use registry information to identify potential participants for studies.
Families also will learn about tools available within the DataHub, including de-identified survey results, document storage and sharing, medication and symptom tracking, and a personal journal. The conversation also explains why keeping health information current and uploading a genetic report can be valuable as new research opportunities emerge.
Dr. Lauren ends the episode reminding families of children aged 1-17 years to upload their genetic reports if they are interested in joining the next phase of the Observer-Reported Communication Ability (ORCA) study. ORCA will exclusively be recruiting families who have curated genetic reports in the PMS DataHub. Tune in to future episode to learn even more about what the ORCA team has accomplished so far and about their new study!
Learn more at pmsf.org/DataHub or contact DataHub@pmsf.org (mailto:DataHub@pmsf.org) for assistance.
Needing additional help? You can schedule DataHub Help Desk with Kathy here (https://calendly.com/kathy-482/pmsdatahub)!
3 Sept 2026
Diving into the Developmental Milestone Survey with Dan Gallo and Tessa Clarkson from Jaguar Gene Therapy
In this episode of the Phelan-McDermid Syndrome Podcast: Sharing Research, Progress, and Hope, Lauren is joined by Dan Gallo, Executive Vice President and Head of Clinical Development and Medical Affairs at Jaguar Gene Therapy, and Tessa Clarkson, Clinical Development Consultant at Jaguar Gene Therapy.
They discuss Jaguar’s Developmental Milestone Survey, a study designed to better understand how people with Phelan-McDermid syndrome gain, lose, and potentially regain meaningful developmental skills. The goal is to identify developmental patterns that could help researchers measure meaningful treatment effects and inform future clinical trials—including potentially reducing the need for placebo-controlled designs.
The conversation covers the survey’s scientific rationale, lessons from a similar approach in Rett syndrome, eligibility and participation, and why family participation is especially important as Jaguar prepares for discussions with the FDA about future JAG201 development.
JAG201 update: As of August 21, 2026, Jaguar reported that Cohort 1 dosing in its Phase 1/2 trial was complete and Cohort 2 dose escalation was underway. Jaguar described early indications of clinical benefit across neurodevelopmental domains and an emerging safety profile with no treatment-related serious adverse events reported to date, while emphasizing that more follow-up and complete analysis are needed before conclusions can be drawn.
Learn more about the Developmental Milestone Survey: pmscaregiverstudy.com
Who has been a guest on Convos with Dr. Kate
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Dr Boaz Barak
Dr Haitham Amal
Dr Pilar Trelles
Tess Levy
Dr João Peça
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