CureSHANK

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

Have you had genetic testing in the past? Your experience could help other families.GeneDx is looking to better understa...
08/26/2026

Have you had genetic testing in the past? Your experience could help other families.

GeneDx is looking to better understand how genetic testing impacts patients and families. If you or a loved one has had exome or genome testing, they’d love to hear about your experience through a short, 5-minute survey.

At CureSHANK, we know firsthand how genetic testing can connect families with precision therapies, community, and a path to care. Families that share their experience in GeneDx’s survey will help advocate for better access to genetic testing for families in the future.

The survey is anonymous and completely optional. No identifying information will be collected, though anonymous open-ended responses may be quoted in GeneDx educational or advocacy materials.

Share your experience here: https://genedx.qualtrics.com/jfe/form/SV_0etLDloT0VBJWHc?PAO=shank



GeneDx

❗️REMINDER❗️Help Advance Research in Phelan-McDermid Syndrome - Milestone SurveyCaregivers of individuals with Phelan-Mc...
08/25/2026

❗️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://www.pmscaregiverstudy.com/?utm_code=pag_cureshank&utm_source=facebook&utm_campaign=launch_2026&utm_content=version_a

Have you had genetic testing in the past? Your experience could help other families.GeneDx is looking to better understa...
08/21/2026

Have you had genetic testing in the past? Your experience could help other families.

GeneDx is looking to better understand how genetic testing impacts patients and families. If you or a loved one has had exome or genome testing, they’d love to hear about your experience through a short, 5-minute survey.

What is learned will help advocate for better access to genetic testing for families in the future.

From time to time, CureSHANK shares surveys like this because they help bring the patient and family voice into efforts to improve access to and awareness of genetic testing. As evidenced by the recent landmark PMS prevalence study, many individuals with PMS remain undiagnosed. The barriers are usually awareness of the value of genetic testing and access to it. The insights from this survey will be used to shape the genetic testing landscape and will provide participating organizations with valuable data for public outreach.

Please note: The survey is anonymous and completely optional. No identifying information will be collected, though anonymous open-ended responses may be quoted in GeneDx educational or advocacy materials.

Share your experience here: https://genedx.qualtrics.com/jfe/form/SV_0etLDloT0VBJWHc?PAO=shank

📝 Participate in Active Clinical Research TrialJAG201 Gene Therapy Study in Children & Adults with SHANK3 Haploinsuffici...
08/19/2026

📝 Participate in Active Clinical Research Trial

JAG201 Gene Therapy Study in Children & Adults with SHANK3 Haploinsufficiency

Study Type: Interventional trial
Age Range: 2-9 years old
Location: Chicago, New York, Boston

This is a Phase 1/2 study to evaluate the safety, tolerability, and clinical activity of a single dose of JAG201. Now enrolling pediatric cohorts. Adult cohorts may be initiated at a later time.

Eligibility Criteria:
🔹2-9 years old
🔹Confirmed SHANK3 mutation or 22q13.3 deletion
🔹PMS severity score of 3 or higher
🔹Permanent legal resident of the US

This study has three locations:
🔹Chicago, IL at Rush University
🔹New York, NY at Seaver Autism Center at Mount Sinai
🔹Boston, MA at Boston Children’s Hospital

For more info: https://clinicaltrials.gov/study/NCT06662188?term=Jaguar%20gene%20therapy&rank=1



Rush University
Seaver Autism Center
Boston Children’s Hospital

Each month, we're proud to share the latest research, participation opportunities, and scientific advancements in the Cu...
08/14/2026

Each month, we're proud to share the latest research, participation opportunities, and scientific advancements in the CureSHANK Community News.

Get the latest updates and stories as we continue our mission to accelerate life-transforming therapies for individuals living with PMS. Each Community News contains:
➡️ Monthly Community Highlights
➡️ Research Participation Opportunities
➡️ CSO Science Corner from CureSHANK's CSO Ralf Schmid
➡️ Scientific & Research Updates
➡️ Latest Resources
➡️ And more!

Sign up today at cureshank.org to receive our next CureSHANK Community News when it drops in September!

📝 Participate in Active Clinical Research StudyObserver Reported Toileting Abilities Survey (ORTAS)Now entering Phase II...
08/12/2026

📝 Participate in Active Clinical Research Study

Observer Reported Toileting Abilities Survey (ORTAS)
Now entering Phase II, this survey was developed to assess toileting abilities of people with neurological disorders. Phase 1 data from 200 participants has been analyzed, and Phase II has now been released to a broader audience.

COMBINEDBrain is seeking responses from everyone, at all ability levels:
🔹Caregivers of people with neurological disorders
🔹Caregivers of neurotypical control children (age 1-7)
🔹People who have neurological disorders
🔹Nonprimary caregivers of people with neurological disorders or neurotypical controls

For more info, contact: COMBINEDBrain at [email protected]

For more info: https://tinyurl.com/2nkenawu

COMBINEDBrain - Outcome Measures and Biomarkers for Neurodevelopmental

❗️IMPORTANT UPDATE❗️Help Advance Research in Phelan-McDermid Syndrome - Milestone SurveyCaregivers of individuals with P...
08/11/2026

❗️IMPORTANT UPDATE❗️

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://www.pmscaregiverstudy.com/?utm_code=pag_cureshank&utm_source=facebook&utm_campaign=launch_2026&utm_content=version_a

🎂 Happy Birthday, Isabella!! 🎂Let’s take a moment to celebrate Isabella on her birthday!! Isabella’s favorite food is cu...
08/10/2026

🎂 Happy Birthday, Isabella!! 🎂

Let’s take a moment to celebrate Isabella on her birthday!! Isabella’s favorite food is cupcakes and her favorite birthday gifts are Barbie dolls.

In honor of her birthday, Isabella’s shared this special message: “Bella, we are wishing you the best birthday and hope all your wishes come true! 💜”

To Isabella and her wonderful family -- we wish you a day filled with love, joy, and all of Isabella’s favorite things!

Show Isabella some birthday greetings in the comments. Happy birthday, Isabella!! 💙

🎂 Happy Birthday, Darus!! 🎂Join us in celebrating Darus for his birthday! Darus’ favorite food is Benny’s Tacos and his ...
08/10/2026

🎂 Happy Birthday, Darus!! 🎂

Join us in celebrating Darus for his birthday! Darus’ favorite food is Benny’s Tacos and his favorite birthday gift is books.

Darus’ mother Abby shared this birthday message: “Love you so much, honey! I’ll walk to the end of the Earth to help you, and all of your PMS friends have brighter and better tomorrows! Xoxo.”

To Darus and his wonderful family: may your day be filled with joy, love, and all of Darus’ favorite things. Wishing you a lovely day of celebration!

Join us and share your birthday wishes in the comments. Happy birthday, Darus!! 💙

🔬CSO Science Corner: Why Multiple Drug Programs for PMS Need to be Moving Forward at Once Four different PMS drug progra...
08/07/2026

🔬CSO Science Corner: Why Multiple Drug Programs for PMS Need to be Moving Forward at Once

Four different PMS drug programs are now in or approaching human testing at the same time. This isn’t a coincidence -- it’s part of a deliberate strategy that rare-disease researchers, drug developers, and investors call taking “multiple shots on goal”. The theory behind this is that pursuing several different scientific approaches will maximize the chances that at least one reaches the families who need it.

Although all four programs aim to help people with PMS, they work in genuinely different ways -- and that’s exactly the point. The programs currently in motion are:
➡️ Ercanetide or NNZ-2591 from Neuren Pharmaceuticals
➡️ JAG201, a SHANK3 gene therapy from Jaguar Gene Therapy
➡️ PYC-002, an A*O that’s entering clinical trials soon PYC Therapeutics
➡️ BA102, small-molecule drug that’s enter entering clinical trials soon NeuroNOS

This “multiple shots on goal” method aligns with CureSHANK’s mission to accelerate life-transforming therapies for PMS. CureSHANK is working with every drug developer currently active in the PMS field, named and not-yet-named, with one shared goal: to keep all partners moving forward and progressing toward real treatments. It’s also why we’ve launched the Drug Development Accelerator, to encourage more innovation and diversity of approach.

Since there are no approved treatments for PMS yet, every drug program is another chance that something eventually reaches approval.

Read the full post: https://cureshank.org/news/multiple-drug-programs-for-phelan-mcdermid-syndrome

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