Pitt Hopkins Research Foundation

Dedicated to Pitt Hopkins research & treatment, and to creating a network of friends & supporters of those with PTHS. Join us on FB @

[Pitt Hopkins Research Foundation @PittHopkins]

Registration is Open for the 2026 Pitt Hopkins Virtual Science Symposium!
Registration is Free. Learn more and register today:
📷 https://t.co/TxQwecS2Dt

#PittHopkins #PittHopkinsSyndrome #PHRF #RareDisease #Research #ScienceSymposium #PTHS #HopeThroughResearch

[Pitt Hopkins Research Foundation @PittHopkins]

We are so excited to join Unravel Biosciences in announcing that today the first person has been dosed in the RVL-001 clinical trial for #PittHopkins syndrome.

https://t.co/GkxtBsRbiJ

[Pitt Hopkins Research Foundation @PittHopkins]

On Wednesday, March 18, Pitt Hopkins families joined Mahzi Therapeutics on #CapitolHill to advocate for change — and it was a powerful day!

We met with lawmakers, shared our stories, and pushed for real progress in rare disease research and regulatory clarity.

#PittHopkins

[Pitt Hopkins Research Foundation @PittHopkins]

NEW YORK area families!

The Seaver Autism Center for Research and Treatment at Mount Sinai in New York City is recruiting for a study specific to #PittHopkins.

To find out more, please email: [email protected]

You will be compensated $100 for your time and effort.

[UCSD Sanford Stem Cell Institute @ucsdstemcell]

🎉 A patient w/Pitt-Hopkins syndrome has received an investigational, 1st-in-human gene therapy, thx to the lab of SSCI's Alysson Muotri, PhD. It's the first drug developed using brain organoids — and not animal models — to reach clinical trial. 🧠 H/t @UCSDMedSchool @PittHopkins

[Pitt Hopkins Research Foundation @PittHopkins]

Rare Disease Day – February 28, 2026

Rare diseases affect 1 in 10 people worldwide. Most have no approved treatment. How to help:

Donate to fuel research & clinical trials–https://t.co/GxBRCuaDew

Participate in research–https://t.co/3Yq9zusX5Y

#RareDiseaseDay2026 #PittHopkins

[Pitt Hopkins Research Foundation @PittHopkins]

First patient dosed with Mahzi Gene Therapy for Pitt Hopkins - A momentous day for our community!! Read more: https://t.co/rldA3gPAUV

[Pitt Hopkins Research Foundation @PittHopkins]

Children’s Hospital Colorado is now recruiting for the Mahzi gene therapy clinical trial for #PittHopkins syndrome—the third site now open.

📷 Learn more at: https://t.co/JuRfJNpirE

[Pitt Hopkins Research Foundation @PittHopkins]

Neuren shared an FDA update on NNZ-2591 for Pitt Hopkins syndrome (PTHS). The FDA indicated a PTHS-specific clinical measure plus an observer-reported outcome may be appropriate endpoints for a future trial. Steps toward a PTHS study in 2026.
🔗 Read here: https://t.co/HB8kDXWTkl

[Pitt Hopkins Research Foundation @PittHopkins]

#PittHopkins #Census Count, end of quarter 4 in 2025..
• 1,607 diagnosed with Pitt Hopkins syndrome 💙
• 63 diagnosed with Pitt Hopkins-Like syndrome (1 or 2) 💙
• 77 different countries🌎
• 48 states in the USA🇺🇸
• 0-52 years old🙋‍♀️🙋

🔗https://t.co/2YXtqCsEYf

#raredisease

[Pitt Hopkins Research Foundation @PittHopkins]

We’re excited to share that Rush University Medical Center (Chicago, IL) is now open for enrollment for the Mahzi #genetherapy clinical trial for #PittHopkins syndrome—the second site to begin enrolling participants.
https://t.co/JuRfJNpirE

[Pitt Hopkins Research Foundation @PittHopkins]

📅 July 10–11, 2026 | Science. Hope. Community.
The #PittHopkins Science Symposium is going virtual in 2026, bringing our global community together like never before 🌍💙

🔜 Registration details and agenda will be shared closer to the event dates. https://t.co/2Nms7RXaig

[Pitt Hopkins Research Foundation @PittHopkins]

We’re thrilled to announce that Mahzi Therapeutics’ Pitt Hopkins gene therapy clinical trial is opening enrollment at the first site, UCSF Benioff Children’s Hospital Oakland in California!
📷 Learn more at https://t.co/GHHLryNHbu.

[Pitt Hopkins Research Foundation @PittHopkins]

Updated information now available for the Mahzi Gene Therapy Trial, including
-Community Meeting Recording available to watch
-Updated FAQ section
-Site locations
Check out our website at https://t.co/Fn1AEqdlP1 for all the latest!

[Heather Thompson @ms_thompson007]

September 18th is Pitt Hopkins Awareness Day, so here at Shelby-Rising City we LIT IT UP BLUE in ‘Stile’ for our amazing friend! Huge shout-out to @PittHopkins for the swag! @srchuskies @speakingofstacy

[Pitt Hopkins Research Foundation @PittHopkins]

In honor of #PittHopkins Awareness Day, we’ve released a special edition newsletter! Read it now and share with your friends & family: https://t.co/fwh6ARhzPh
Together, we raise awareness. Together, we bring hope.

#PittHopkinsAwarenessDay #PTHS #RareDisease #PHRF #awareness

[Pitt Hopkins Research Foundation @PittHopkins]

💙It’s Pitt Hopkins Awareness Day💙
Today we honor the beautiful faces of those touched by Pitt Hopkins Syndrome — the real reason behind every step we take, every dollar raised, and every ounce of hope we hold.
Join us in spreading awareness today! https://t.co/azJrNkEsO9

[Pitt Hopkins Research Foundation @PittHopkins]

🌎 Big News from Brazil!

We are thrilled to share that the Brazilian Association of Pitt-Hopkins Syndrome has officially launched! 🇧🇷
We are excited to collaborate and work together to advance research and advocacy worldwide. Learn more: https://t.co/4TiZyou5lg
#PittHopkins

[Pitt Hopkins Research Foundation @PittHopkins]

Research is moving forward, gene therapy and clinical trials are happening NOW to help those living with #PittHopkins syndrome. Read our updated pipeline and #research info
➡ https://t.co/4Hymfs6fYx
THANK YOU, for your continued support of our loved ones and our foundation! 💙

[Pitt Hopkins Research Foundation @PittHopkins]

New Research Alert for the Pitt Hopkins Community!
A new study found that people with #PittHopkins Syndrome may be more likely to have eosinophilic esophagitis (EoE) & issues with the immune system like low antibody levels and frequent infections.
https://t.co/mSLZbLvYZd