Insights from the 2026 Phelan-McDermid Syndrome Drug Development Symposium

CureSHANK’s 3rd Annual Phelan-McDermid Syndrome Drug Development Symposium was an uplifting display of community coming together for a shared goal: to advance science and build a path towards treatments for those living with PMS. 

Over the course of two days, the symposium brought together researchers, clinicians, industry leaders, investors, caregivers, and patient advocates. The lived experience insights, scientific discussions, and emerging data presented at the symposium will help us close the gap between discovery and clinical impact. 

As an organization founded by parents of children affected by PMS, lived experience is central to everything we do. That’s why we made family voices a prominent part of the symposium. We wove images of caregiver quotes and photos of children and families living with PMS throughout the event, serving as a quiet but powerful reminder of who this work is for and our “why.”.  

We also opened both days with PMS parents sharing their families’ stories firsthand. These insights from Meagen Hudson, Courtney Henderson, and Avis Barker were a powerful reminder that behind every dataset, every biomarker, and every clinical endpoint is a person, a family, and a future we are working to support.

Two Days of Science, Community, and Hope

Day 1 explored the current state of PMS research, helping symposium attendees understand its prevalence, genetic landscape, and emerging therapeutic strategies targeting SHANK3. The day concluded with a poster reception, featuring the latest studies relevant to PMS.

Building on the scientific foundation from the first day, Day 2 set its sights on the next phase of PMS drug development. Speakers brought the latest clinical trial updates alongside advances in outcome measures and biomarkers — the essential tools that will help us know when a treatment is truly working.

Here are the key takeaways from two days of remarkable science, community, and hope.

Key Takeaways

Natural history matters. Understanding the natural history* of PMS remains a top priority for clinical trial design and improving patient care. Since PMS is considered a rare disease, studying its natural history helps researchers understand disease progression and their responses to current treatments. This knowledge will then help researchers develop effective therapeutic strategies. 

PMS is more common than we thought – affecting 1 in 7,300 individuals**. Despite testing limitations, SHANK3 deletions and mutations are among the most common causes of autism and developmental delay. PMS is still considered rare by these measures, but the updated prevalence estimates underscore the broader societal need for greater investment in research, improved diagnostic testing, and the development of effective treatments.  

The burden on families is enormous.  Discussions at the symposium highlighted the substantial burden experienced by families affected by PMS, including impacts on daily life, healthcare utilization, and financial strain. Despite this, these challenges have not been well quantified in a systematic way. To address this gap, CureSHANK partnered with Broadstreet Health Economics to begin formally quantifying the full burden of illness, with the goal of generating data that can better inform research, clinical development, and policy.  

Clinical trials are expanding. Multiple PMS-SHANK3 trials are planned or underway. At the symposium, we discussed trials in the planning phase, such as those led by NeuroNOS and PYC Therapeutics, alongside trials currently underway via Jaguar Gene Therapy and Neuren. Read more about current and upcoming trials here: CureSHANK's Research Participation Page. 

Patient-focused drug development is central. Parent and caregiver input directly informs clinically meaningful endpoints and trial success criteria. By sharing their experience with PMS, caregivers help generate the evidence needed to advance research, inform treatment development, and advocate for better support for PMS families.

Thank you to Our Event Sponsors 

We are deeply grateful to our sponsors for their generous support of the 2026 PMS Drug Development Symposium. Thank you Jaguar Gene Therapy, Neuren Pharmaceuticals, and PYC Therapeutics for not only supporting the symposium, but for your ongoing partnership and commitment to advance research and clinical trials for PMS treatments. 

Thank you for joining the 2026 PMS Drug Development Symposium as both sponsors and speakers – and for sharing key updates on your vital work to advancing meaningful treatments for the PMS community.

We’d also like to thank Cure NYC for hosting this gathering in their beautiful venue and for nurturing a safe space for meaningful collaboration and progress.

The Path Forward

By engaging and uniting families, researchers, and industry, CureSHANK bridges community urgency with scientific and regulatory rigor, fostering the collaborations that will bring new treatments to individuals and families living with PMS.

To every speaker, sponsor, researcher, family, and advocate who shared their time and insights – we thank you for playing an integral role in our progress forward.

The discussions and discoveries made at the symposium will help us chart the path forward. 

We’re building the path to therapies. Together.

Stay Connected

Stay up to date and follow along as we continue to accelerate life-transforming therapies for individuals and families living with PMS.

*Note: Natural history is the progression of a disease process in an individual over time, in the absence of treatment. (Source: CDC)
 **Note: Prior to the symposium, the estimated prevalence was 1 in 15,000.