CureSHANK

CureSHANK is relentlessly focused on turning promising science into life-transforming therapies for Phelan-McDermid syndrome.

06/05/2026

New Study Locations: PMS Koala Study for NNZ-2591

Study Type: Interventional
Age Range: 3-12 years old
Locations: California, Illinois, Maryland, Massachusetts, New York, Ohio

This study is evaluating an investigational treatment to see if it can improve how children with Phelan-McDermid syndrome feel and function.

Open Label Extension (OLE): The Koala OLE Study is evaluating the long-term effects of the investigational study drug, NNZ-2591, in participants 3-12 years of age with PMS 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).

Please email [email protected] to find out more and see if the Koala study could be a good fit for your child.

06/04/2026

Genetic testing can bring up a lot of questions. So we're breaking it down. 🧬

Swipe through for Genetic Testing 101:
🔬 What it actually is
💉 How it works
🧩 What variants mean for you and your family
💬 Next steps

That's why we created Start Genetic — to empower families to think genetic first and get the answers they deserve: diagnosis, community, and pathways to care.

If you or someone you love has unexplained symptoms, developmental delays, or a family history of a genetic condition, talk to your doctor to see if genetic testing is right for you.

Share this with someone who might benefit. 💙

Learn more at StartGenetic.org
Start Genetic

06/03/2026

‼️Reminder‼️ Help Advance Research in Phelan-McDermid Syndrome - Milestone Survey

Caregivers of individuals with Phelan-McDermid syndrome (PMS) are invited to participate in an online research study of developmental milestones.

This research study aims to better understand how developmental milestones, or skills, change over time in individuals living with PMS. Understanding how skills are gained, lost, or regained helps researchers better understand PMS. The input from this study may help inform further research and potential treatments in the future.

Fully Remote Participation. All study activities take place online. Surveys can be completed from home and saved to finish later at your convenience.

You May Qualify If:
☑️ You are an adult and are a caregiver of someone with Phelan-McDermid syndrome
☑️ You are willing to complete an online survey at three time points over the next 12 months
☑️ You are willing to share developmental milestone information and documentation when available
☑️ Your loved one is between ages 2 and 30
☑️ You can complete surveys in English

Final eligibility will be determined by the study team based on study requirements.

Learn more about the study and check your eligibility: https://buff.ly/nBBqCJc

06/02/2026

Happy June! We’re thrilled to share the latest installment of CureSHANK Community News with you. This month’s edition is packed with important study updates and opportunities to participate in transformative research.

In this month's edition:
🔬 PMS Caregiver Milestone Study
🧬 Learn more and get involved in Genetic Testing Action Day on July 25th
📋 Assessment of Social Difficulties Virtual Survey
💊 Gene therapy updates from last month’s ASGCT annual meeting
💡New study publication with valuable insights for PMS clinical research

Read it now — https://buff.ly/VnNotwY

If something resonates, share it with your community. Every post helps us reach more PMS families.

06/01/2026

🎬 Watch Now: PMS Milestone Study Webinar

Learn more about how you can help advance research in Phelan-McDermid Syndrome through participation in this PMS Caregiver Milestone Study.

Watch the webinar to gain insight into:
✅ The study's purpose and what researchers hope to learn
✅ What participation looks like
✅ The screener and study walkthrough
✅ Q&A with the research team

About the study: This research study aims to better understand how developmental milestones, or skills, change over time in individuals living with PMS. Understanding how skills are gained, lost, or regained helps researchers better understand PMS. The input from this study may help inform further research and potential treatments in the future.

You may qualify if you are a caregiver of someone with PMS between ages 2 and 30 and you can complete surveys in English over three time points over the next 12 months.

Final eligibility will be determined by the study team based on study requirements. ��

Watch the webinar and check your eligibility: https://www.pmscaregiverstudy.com?wvideo=ba3kxmd2r3

05/28/2026

Researchers at Yale want to hear from the PMS community!

A new online study is looking at social experiences in individuals with Phelan-McDermid Syndrome or SHANK3 mutations — including social motivation, social skills, and emotional connection.

✅ All ages welcome
✅ 100% virtual
✅ 5–10 minutes to complete

Every response helps build a clearer picture of PMS and moves research forward. Share with your family and network!

Take the questionnaire 👇
https://redcap.med.yale.edu/surveys/?s=X73JR9T4YWPEJPE4

05/27/2026

🔬 CSO Science Corner: The PMS Diagnosis Gap

Phelan-McDermid Syndrome may be nearly twice as common as previously thought -- not due to a growing prevalence, but because certain tests may miss key diagnosis information.

In this month's CSO Science Corner, CureSHANK Chief Science Officer Ralf Schmid breaks down this critical diagnosis gap and why the type of genetic test your doctor orders matters more than previously realized.

The good news? Whole genome sequencing is a reliable test that will connect families with an accurate diagnosis. In fact, it's the gold standard for PMS diagnosis.

If you believe your loved one received an inaccurate diagnosis, ask your doctor about whole genome sequencing.

🔗 Read the blog: www.cureshank.org/news/the-pms-diagnosis-gap

05/26/2026

🧬 Launching June 2nd -- the Start Genetic Community Newsletter!

Start Genetic is a movement dedicated to increasing awareness and understanding of genetic testing and genetic conditions. Genetic testing unlocks three things every family deserves: diagnosis, community, and pathways to care.

That's why CureSHANK created Start Genetic. To empower people to think genetic first for the answers they need to move forward.

The newsletter is one of the ways we're bringing that mission to life. Every month you'll find resources, updates, and advocacy opportunities that will empower and expand our community.

Sign up today at StartGenetic.org
Start Genetic

05/19/2026

Help Advance Research in Phelan-McDermid Syndrome - Milestone Survey

Caregivers of individuals with Phelan-McDermid syndrome (PMS) are invited to participate in an online research study of developmental milestones.

This research study aims to better understand how developmental milestones, or skills, change over time in individuals living with PMS. Understanding how skills are gained, lost, or regained helps researchers better understand PMS. The input from this study may help inform further research and potential treatments in the future.

Fully Remote Participation. All study activities take place online. Surveys can be completed from home and saved to finish later at your convenience.

You May Qualify If:
☑️ You are an adult and are a caregiver of someone with Phelan-McDermid syndrome
☑️ You are willing to complete an online survey at three time points over the next 12 months
☑️ You are willing to share developmental milestone information and documentation when available
☑️ Your loved one is between ages 2 and 30
☑️ You can complete surveys in English

Final eligibility will be determined by the study team based on study requirements.

Learn more about the study and check your eligibility: https://bit.ly/4ddjmfy

05/04/2026

‼️Closing Today‼️

Caring for someone with PMS-SHANK3 is a full-time job that’s never been measured, until now.

As parents and caregivers, we know how complex and demanding life with Phelan-McDermid syndrome (PMS-SHANK3) can be. The time, energy, emotional strain, and out-of-pocket costs required to manage medical needs, therapies, sleep disruption, behavioral challenges, and safety concerns are extraordinary. Yet, they have never been fully measured.

Today, there is no PMS-specific study that captures the true, real-world impact of caregiving. As a result, the burden of PMS-SHANK3 remains largely invisible. We are inviting caregivers to participate in a confidential research study designed to change that.

Why participate?
➡️ Help make the real impact of PMS-SHANK3 visible
➡️ Advance research and treatment development
➡️ Advocate for better support for PMS families
➡️ Eligible participants will be compensated with a minimum of $50 on survey completion

See if you’re eligible and learn more: https://bit.ly/4sfReyd

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Website

http://www.cureshank.org/

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