Phelan-McDermid Syndrome Foundation

01/31/2026

Some exiting news for our community in the UK. More info to come as we learn more!

We are funding a new multi-million pound trial that will reveal if a simple nasal spray could improve daily life for people with Phelan-McDermid Syndrome. For children and young people living with this rare genetic condition, a change in their SHANK3 gene impacts their nerve function, leading to wid...

01/29/2026

🔬New blog on metformin treatment in mice

New preclinical research from McGill University explored whether metformin, which is a widely used FDA-approved treatment for type 2 diabetes, could improve brain function and behavior in a mouse model of Phelan-McDermid syndrome.

🧠 What did researchers find?
The researchers tested male mice without the SHANK3 gene, which is a key gene that helps regulate how brain cells communicate.

In the mice without SHANK3, activity in brain signaling pathways as well as performance on behavior and memory tasks improved after the mice were given metformin.

💡 Why metformin?
Beyond lowering blood sugar, metformin affects brain pathways involved in learning, memory, and behavior, making it an intriguing candidate to study in neurodevelopmental conditions like Phelan-McDermid syndrome.

Link to the blog and research study in the comments!

01/28/2026

🚙🏥Have an upcoming clinic appointment or research visit? 🏥🚙

The Phelan-McDermid Syndrome Foundation is creating new resources to help you and your loved one during clinic and research visits! We know these visits can be stressful–new places, new people, uncomfortable procedures–but feeling more prepared and having a bag of tricks can reduce the stress and create a more comfortable (and maybe even enjoyable!) environment.

🗣️Before we get started, we want to understand what is most needed right away and what ideas we haven’t thought of yet!

What do you wish you had to prepare for the appointment? What would be helpful to use during the visit? Do you want printed materials? QR Codes? You tell us!

📋Fill out the brief survey (less than 5 minutes!) in the comments.

01/22/2026

⛰️Calling all Scientists, Researchers, and Other Professionals⛰️

Abstract submissions are now open! Be part of “The Climb We Make Together”!

Please complete the submission form in the comments by Friday, February 27!

Key Conference Details:
📅Dates: Wed, July 15 to Sat, July 19, 2026
📍Location: Ga***rd Rockies Resort & Convention Center | Aurora, Colorado
🎫Registration for professionals opens February 2. DO NOT register yet.

For planning purposes, poster presentations and talks will be assigned on Friday, July 16 and/or Saturday, July 17. In addition to traditional scientific and research abstracts, we are open to presentations from Phelan-McDermid Syndrome Clinics, quality improvement projects, and other community resources.

01/21/2026

🎙️New Podcast Episode!🎙️

It’s been almost 3 years since our initial podcast on the Inchstone Project, so tune in to hear updates with Drs. Natasha Ludwig and Jenny Downs! The Inchstone Project is a collaborative international effort to improve outcome measures and quality of life for individuals with developmental and epileptic encephalopathies (DEEs), including Phelan-McDermid syndrome .

Highlights include:

👣 Small steps ("inchstones") matter.
📊 Phelan-McDermid syndrome families made up 20% of their survey! Your voices are shaping the future of research!
📱Touchscreen use, communication, and daily skills are all tied to better quality of life.
🧩Every child’s journey is unique!

🎧 Listen now and hear how your
participation is making a difference!

📑And check out their latest published article!

Links in comments!

01/16/2026

We are deeply saddened to share the loss of Toussaint Emory Delery, who passed away at 20 months old. Toussaint was a sweet, fun-loving, and determined little boy whose bright smile could instantly lift the spirits of everyone around him. He loved the water, sucking his thumb, and being surrounded by those who loved him.

Toussaint showed incredible strength through multiple hospital stays and two open-heart surgeries. He is lovingly remembered by his parents, Todd and Lacey, and by the many family members, friends, and caregivers who were touched by his courageous spirit.

Please keep Toussaint’s family and all who loved him in your thoughts during this difficult time.

01/15/2026

🌟 New Publication Alert 🌟

Results from Neuren’s Phase 2 trial of NNZ-2591 have been published in Neurology: Genetics.

First author Dr. Ann Neumeyer shares that, "The results from the NNZ-2591 Phase 2 study are encouraging, showing improvements on both broader neurodevelopmental measures as well as on measures tailored specifically to Phelan-McDermid syndrome. This progress has led to the launch of the first-ever Phase 3 clinical trial for PMS, which is now enrolling participants."

Dr. Liz Berry-Kravis adds, “We’re hopeful that this next step will confirm the improvements seen in Phase 2 and bring us closer to a meaningful treatment option for individuals with Phelan-McDermid syndrome.”

Check out our blog post or read the full publication to find out more! Links in the comments.

01/15/2026

📣Updated Medical Advisory Letter on Metachromatic Leukodystrophy (MLD)

Our Medical Advisory Committee (MAC) provides a few updates on MLD. MLD is caused by variants in the arylsulfatase A (ARSA) gene which is located in the end of chromosome 22, and may co-occur with even small deletions (

01/14/2026

✨REGISTER NOW for the Informational Webinar on the EMERALD Study!✨

📅Wednesday January 21, 2026
🕗8:00-9:00PM ET (live, recording available after)

🧠What: Informational webinar on the EMERALD study, which is investigating a new potential treatment aimed at reducing seizures in children and adults with Developmental and Epileptic Encephalopathies (DEEs), including Phelan-McDermid syndrome. This informational webinar will highlight key aspects of the trial and have live Q&A following the brief presentation.

👩🏻‍⚕️Who: presented by Julia Chase and Kelley Del Real from Praxis Medicines

💻How to Attend: Link to registration in our comments

💊EMERALD Study Criteria
2 through 65 years of age
Have received a diagnosis of a DEE by genetic mutation and/or syndrome diagnosis (Phelan-McDermid syndrome is considered a DEE)
Have at least 4 motor seizures (seizures that involve movement) in the 4 weeks prior to screening

❓Got any questions for our presenters? Add them below or fill out the form in our comments!

01/12/2026

🎉 Registration is OPEN! 🎉

Join us July 15–19, 2026, in Aurora, Colorado, for the 2026 PMSF Family Conference. Enjoy four days of connection, learning, and hope, guided by our theme,
The Climb We Make Together.

Early bird pricing is available for a limited time.

Hotel and daycare registration links will be shared after conference registration in your confirmation email.

👉 Register now by visiting link in the comments

01/09/2026

👩🏻‍⚕️🏥U.S. families we need your help! 🏥👩🏻‍⚕️

We are launching our Phelan-McDermid Syndrome Healthcare Provider Survey to gather information about the healthcare team that treats or supports your loved one who lives with Phelan-McDermid syndrome.

By helping us learn about your loved one’s care team, we will better understand:
✳️The types of US medical professionals and specialists involved in caring for individuals with Phelan-McDermid syndrome,
✳️Where families typically receive care in the US, and
✳️How different providers coordinate treatment and support.

Your participation in this survey is voluntary and anonymous.

Link to the survey in the comments!

A special thank you to our partners, Jaguar Gene Therapy and CureSHANK, for their help and collaboration with the development of this survey.

01/08/2026

⏳ Just 4 days to go!

Registration for the 2026 PMSF Family Conference opens soon, and we can’t wait to welcome families to Aurora, Colorado this July.

When registration opens, families will be able to:

✔️ Register for the conference
✔️ Access the PMSF hotel room block
✔️ Sign up for childcare and sibling programs

📅 July 15–19, 2026
📍 Ga***rd Rockies | Aurora, CO

All the details, FAQs, and planning resources are now live on our website so you can be ready when registration opens.

Because this truly is The Climb We Make Together 🏔️💚

The link to all conference details is in the comments!

Questions? Reach out to conference@pmsf.org.