Phelan-McDermid Syndrome Foundation

Phelan-McDermid Syndrome Foundation Our official Foundation page aims to raise awareness of Phelan-McDermid syndrome
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This is the official page of the Phelan-McDermid Syndrome Foundation, a 501 (c)(3) non-profit established by families impacted by a diagnosis of Phelan-McDermid syndrome/22q13 deletion.

As PMSF continues to strengthen existing relationships and build new ones with pharmaceutical companies, we want our com...
06/18/2026

As PMSF continues to strengthen existing relationships and build new ones with pharmaceutical companies, we want our community to understand what our relationships with “industry” mean, and what they do not mean.

💚 At the heart of it all is YOUR voice. PMSF brings the community voice to industry, making sure we advocate for what matters most to families.
✅ For families, PMSF is your go-to source for clear, trustworthy information about clinical trials.
🧪 While we do not make final decisions about clinical trial design, we are committed to sharing your concerns, priorities, and lived experiences with industry.

Stay tuned for an upcoming podcast with Dr. Lauren Schmitt (Chief Science Officer) and Amanda Bergen (Director of Communications) discussing PMSF’s role in relationships with pharmaceutical companies.

🧬 Join the “Understanding A*Os and Informed Consent” webinar hosted by DEE-P Connections!In this webinar, Dr. Olivia Kim...
06/17/2026

🧬 Join the “Understanding A*Os and Informed Consent” webinar hosted by DEE-P Connections!

In this webinar, Dr. Olivia Kim-McManus will break down the basics of A*Os and the concept of informed consent. Parent voices will share real experiences navigating these decisions, offering insight into the questions, challenges, and realities families face.

What are antisense oligonucleotide treatments (A*Os)?
• A*Os are synthetic (man-made) forms of RNA molecules used in RNA-based gene therapy.
• A*O therapy targets RNA, making changes reversible—repeat dosing is required to maintain therapeutic benefits.

📅 Date: Tuesday, June 30, 2026
🕣 Time: 4:30 PM ET

*Note this webinar is NOT specific to Phelan-McDermid syndrome. This is an educational webinar about A*Os in general.

Registration link in the comments.

And don’t forget to check out our previous blog post and podcast about A*Os (links in the comments)!

🪽 Way to go PMSF community for making up 15% of the WINGS sample! “Thank you to the entire PMSF community for your suppo...
06/17/2026

🪽 Way to go PMSF community for making up 15% of the WINGS sample!

“Thank you to the entire PMSF community for your support of the WINGS trial! This study grew out of conversations between clinicians brought together at PMSF many years ago and has been supported by this community throughout. We couldn't be more grateful! We look forward to sharing results with you next year!” - WINGS study investigators (Latha Valluripalli Soorya, PhD, BCBA; Allison Wainer, PhD; Elizabeth Berry-Kravis, PhD, MD; Nathan Call, PhD, BCBA)

What does this mean?
💚 You, our families, are highly engaged in research!
📊 The study team can conduct specific analyses about Phelan-McDermid syndrome.
⭐ Our partnership with families and researchers is strong.

You can check out the WINGS study team at the conference!
✅ Dr. Latha Valluripalli Soorya will present on managing challenging behaviors on Friday and run an accompanying workshop on Saturday.
✅ Early data from the study will be shared in two (2) poster presentations on Friday.

🍽️ More meals. More connection. More support.Thanks to the incredible generosity of our sponsors, we're able to provide ...
06/16/2026

🍽️ More meals. More connection. More support.

Thanks to the incredible generosity of our sponsors, we're able to provide more complimentary meals and refreshments at the 2026 PMSF Family Conference than ever before!

We know that traveling with a family can be expensive, and we're thrilled to help ease that burden while creating more opportunities for attendees to connect throughout the conference.

✨ Included at no additional cost:
• Wednesday evening small bites
• NEW! Thursday lunch (sponsored by Neuren Pharmaceuticals)
• Thursday dinner
• NEW! Friday breakfast (sponsored by PYC Therapeutics)
• NEW! Friday evening small bites
• NEW! Saturday lunch

Self-pay concessions will also be available during times when meals are not provided.

A heartfelt thank you to our sponsors for helping us create a welcoming, engaging, and supportive experience for our Phelan-McDermid Syndrome Foundation community. 💚

📱 The 2026 PMSF Family Conference App is Now Live!The Whova app is your go-to resource for everything conference-related...
06/15/2026

📱 The 2026 PMSF Family Conference App is Now Live!

The Whova app is your go-to resource for everything conference-related before and during The Climb We Make Together.

Through the app, you can:
✔️ View the conference agenda
✔️ Build your personalized schedule
✔️ Connect with other attendees
✔️ Receive important conference updates and announcements
✔️ Access venue information and resources
✔️ Sign up for Expert Office Hours beginning July 1

We encourage all attendees to download and set up the app before arriving in Colorado so you're ready to make the most of your conference experience.

🧗 Whether you're joining us for the first time or returning to reconnect with friends, the app will help you navigate the conference and stay connected every step of the way.

📲 Download Whova and search for the 2026 PMSF Family Conference to get started. (Link in comments)

💚 Learn more: pmsf.org/2026-conference

PMSF is grateful to have participated in the 30th Annual Advances in Autism Conference at the Seaver Autism Center at Mo...
06/12/2026

PMSF is grateful to have participated in the 30th Annual Advances in Autism Conference at the Seaver Autism Center at Mount Sinai as a proud sponsor, helping bring together researchers, clinicians, advocates, and families dedicated to advancing autism and neurodevelopmental disorder research.

A special thank you to our Director of Family Support, Carla D'Imperio, for representing PMSF and connecting with the community throughout the event. We were especially honored that eight Phelan-McDermid syndrome family members attended the summit, bringing valuable perspectives and helping raise awareness of Phelan-McDermid syndrome.

Events like the Seaver Autism Summit create important opportunities for learning, collaboration, and connection. Thank you to the Seaver Autism Center for hosting such a meaningful gathering, and to the families who joined us and shared their voices.

Have an upcoming conference, summit, walk, fundraiser, or community event that PMSF should know about? We'd love to hear from you! Please share details with us at [email protected] so we can help spread the word and support community engagement.

🐨 Neuren shared an updated Koala Study site map for active and soon-to-be active sites. 💊 The Koala Study is Neuren’s Ph...
06/12/2026

🐨 Neuren shared an updated Koala Study site map for active and soon-to-be active sites.

💊 The Koala Study is Neuren’s Phase 3 trial of NNZ-2591 in Phelan-McDermid syndrome for children 3-12 years old.

⭐ Interested families can access additional information on their new website (link in the comments) as well as on clinicaltrials.gov.

🚨And don’t forget! The Koala Open Label Extension (OLE) Study is now open!
The Koala OLE is evaluating the long-term effects of the investigational study drug, NNZ-2591, in participants 3-12 years of age with Phelan-McDermid syndrome who completed the Phase 3 Koala Study PMS-301 OR the Phase 2 Study PMS-001. The Koala OLE study will include a screening/baseline period, a 52-week treatment period with open-label investigational drug NNZ-2591 liquid twice daily (in which there will be on-site clinic visits and a remote visit) and a 2-week follow-up period (following the last dose of the NNZ-2591).

🩸 New publication on blood-based biomarkers in Phelan-McDermid syndrome!🧬 Researchers at Ulm University in Germany are e...
06/10/2026

🩸 New publication on blood-based biomarkers in Phelan-McDermid syndrome!

🧬 Researchers at Ulm University in Germany are exploring whether specific proteins found in blood could serve as biomarkers for Phelan-McDermid syndrome.

🧪 Biomarkers are measurable signals in the body that can help researchers understand the severity of a disorder, track changes over time, or monitor how well a treatment is working, such as monitoring blood sugar in diabetes or cholesterol in heart disease.

📊 In this pilot study, the researchers analyzed blood samples from 23 individuals with Phelan-McDermid syndrome and compared them to typically developing controls to look for potential differences in protein levels. They found two proteins that differed between individuals with and without Phelan-McDermid syndrome: SHANK3 and beta-synuclein.

Learn more in our blog post about the study. Link in comments.

🏔️ And stay tuned! Dr. Tobias Böckers will be presenting more on his work at the 2026 PMSF Family Conference!

What an incredible year for ! 💚On March 11, the Castillo family hosted their 9th Annual Dinner and Silent Auction Fun...
06/09/2026

What an incredible year for ! 💚

On March 11, the Castillo family hosted their 9th Annual Dinner and Silent Auction Fundraiser in Miami, raising more than $21,000 to support Phelan-McDermid syndrome research and programs through PMSF, with donations still coming in!

The event brought together family, friends, supporters, and local businesses for an evening of community, hope, and generosity. From exciting auction packages to heartfelt remarks from Martha Castillo about their family's journey with Phelan-McDermid syndrome, the night was a powerful reminder of what we can accomplish together.

Thank you to Martha, Carlos, Matthew Luis, and everyone who helped make this event a success. We can't wait to celebrate the 10th year of fundraising next year!

Read the full story by visiting the link in the comments.

We hope to see you at our monthly June Caregiver Support Groups!Please use the link in the comments to register, and be ...
06/05/2026

We hope to see you at our monthly June Caregiver Support Groups!

Please use the link in the comments to register, and be sure to read the meeting descriptions carefully to make sure you choose the right group for you.

These support groups are not individual or group therapy and are not intended to replace direct clinical services. Please note that these sessions are in English. These groups are NOT recorded. If you have any questions, please email our Director of Family Support at [email protected].

Address

8 Sorrento Drive
Osprey, FL
34229

Opening Hours

Monday 9am - 5pm
Tuesday 9am - 5pm
Wednesday 9am - 5pm
Thursday 9am - 5pm
Friday 9am - 5pm
Saturday 9am - 5pm
Sunday 9am - 5pm

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