In February, history was made for the Pitt Hopkins community as the first-ever individual with Pitt Hopkins syndrome was dosed with an investigational gene therapy in the Mahzi Therapeutics clinical trial. This marked a milestone that families, researchers, and advocates have been working toward for years—and one that represents a new chapter of hope for our community.

Since that first dose, multiple individuals have now been dosed in the trial, marking meaningful progress as the study continues to move forward.

For families living with Pitt Hopkins, this represents something incredibly important: hope is no longer just something we talk about for the future. It is something we are watching unfold today.

The journey to a clinical trial has taken years of research, collaboration, fundraising, advocacy, and the dedication of researchers, clinicians, families, and our entire Pitt Hopkins community. The Pitt Hopkins Research Foundation is incredibly proud to have helped support the research that has brought us to this point – in big thanks to YOU ALL!

There is still much to learn. Clinical trials take time, and researchers must carefully evaluate the safety and potential benefits of this investigational therapy. We do not yet know what the ultimate results will be—but the fact that individuals with Pitt Hopkins are now receiving an investigational gene therapy in a clinical trial is a remarkable milestone for our community.

Clinical Trial Enrollment

The study is continuing to move forward, with four clinical trial sites currently recruiting participants. Families interested in learning more about the trial, eligibility requirements, participating sites, and how to inquire about enrollment can find the most up-to-date information on our website at www.pitthopkins.org/mahzi.

For parents who have spent years wondering if a treatment would ever be possible, this moment carries a profound sense of hope.

We are watching science become possibility—and possibility become action.

We are incredibly grateful to every family participating in the trial, to the researchers and clinical teams leading this work, and to every donor and supporter who has helped make advances like this possible.

This is an exciting new chapter for Pitt Hopkins, and we will continue to keep our community informed as the trial progresses.

September is Pitt Hopkins Awareness Month! Each year, this month gives our community an opportunity to raise awareness, share our stories, bring more people into the Pitt Hopkins community, and—most importantly—turn awareness into action.

Awareness matters. But awareness alone doesn’t move research forward. Action does.

Whether you are a Pitt Hopkins family, friend, supporter, researcher, or donor, there are many ways you can make a difference this September.

Get involved. Raise awareness. Raise funds. Advocate. Share your story. Help us move Pitt Hopkins forward.

• Make Your Gift Go Twice as Far

We are incredibly excited to announce that an anonymous donor has committed a $100,000 matching gift for Pitt Hopkins Awareness Month!

That means every dollar donated during September can be doubled, up to $100,000.

A $25 gift becomes $50.
A $100 gift becomes $200.
A $1,000 gift becomes $2,000.

This is an incredible opportunity to maximize your impact and help us accelerate the work happening across the Pitt Hopkins research community.

• Create a Fundraiser

One of the most powerful ways to make an impact is to create your own fundraiser during September. Host a birthday fundraiser, community event, school or workplace fundraiser, challenge your friends, or simply share our mission with your network and ask them to support Pitt Hopkins research.

Check out our website for resources like sponsorship kits, how to create your own personalized fundraising page, how to start a 5K and more!

Every dollar raised helps support research, clinical development, and programs that bring us closer to a future with better treatments for our loved ones.

• Order a Pitt Hopkins Awareness T-Shirt

Show your Pitt Hopkins pride everywhere you go! Order a Pitt Hopkins Awareness Month T-shirt and help spread awareness throughout your community.

Wear it to school, work, sporting events, community activities, or anywhere you want to start a conversation about Pitt Hopkins. Every shirt is another opportunity to help someone learn about Pitt Hopkins and the families who are working every day toward better treatments and a brighter future.

Order your shirt and wear Pitt Hopkins proudly this September!

Orders close August 31, 2026.

• Share Pitt Hopkins 

Use your voice. Share what Pitt Hopkins means to your family. Tell your friends and coworkers why research matters. Share our social media posts. Encourage your community to learn about Pitt Hopkins and the incredible people and families who live with it every day.

One conversation can lead to one new supporter. One new supporter can lead to one new donor. And one donor can help fund the research that changes a life.

• Go a step further, Be a Part of Our Pitt Hopkins Awareness Spotlight – September 2026!

This September, we'll shine a spotlight on a different member of our Pitt Hopkins community every day until Awareness Day on September 18th to celebrate our incredible families, honor your fundraising efforts, and inspire others to join our mission.

• Spots are limited and will be filled on a first-come, first-served basis!

• To be featured, you must meet ONE of the following criteria:

• Have hosted a fundraiser for the Pitt Hopkins Foundation in the past, OR

• Make a donation of $100 or more, OR

• Commit to hosting a Pitt Hopkins fundraiser in 2026.

If selected, we'll ask you to share:

• A favorite photo of your child

• Your family's story (100 words or less)

• A little about your fundraising journey

Every spotlight helps raise awareness for Pitt Hopkins Syndrome and reminds our community that every donation is currently being matched dollar for dollar, up to $100,000!

If you are interested, complete the form here:

https://forms.gle/dGpbCSRbZp2LcgmY7

• Request a State Proclamation

Help make Pitt Hopkins visible in your community by requesting a Pitt Hopkins Awareness Month proclamation from your governor or state officials.

A proclamation is a simple but meaningful way to bring Pitt Hopkins to the attention of your state, your community, and elected leaders. It helps put our rare disease on the map and gives families another opportunity to share their stories and build awareness.

Visit our website for resources and instructions on requesting a proclamation in your state.

• Turn Awareness Into Action

We have come so far—and we have more reason for hope than ever. With clinical research moving forward and new possibilities on the horizon, this is not a time to sit on the sidelines.

This September, we are asking our entire community to take action.

Start a fundraiser. Request a proclamation. Share your story. Make a donation. Encourage someone else to give.

Together, we can turn awareness into action—and action into progress.

Help us make September our biggest Pitt Hopkins Awareness Month yet.

Learn more, get involved, and make your impact at PittHopkins.org.

The Unravel clinical trial, investigating RVL-001 for Pitt Hopkins syndrome, has reached an exciting milestone: patients have now been dosed in the trial.

For our community, seeing individuals with Pitt Hopkins participating in clinical research represents meaningful progress toward better treatments. Every patient enrolled and every dose administered helps researchers learn more and brings us one step closer to understanding what may be possible for the future of Pitt Hopkins.

We are incredibly grateful to the families participating in the Unravel study, as well as the researchers, clinicians, and partners working to advance this important research.

We will continue to share updates with the Pitt Hopkins community as the trial progresses.

From Philadelphia to Frankfurt, Germany: MDBR 2026

Pitt Hopkins families and friends came together from around the world to support the Million Dollar Bike Ride for Orphan Disease Research—and what an incredible result!

A huge thank you to Team Emma, Cain (Zach Zimmerman), and Rafa (Caroline Alice) and to everyone who donated, rode, shared, and supported this amazing effort.

Together, we raised more than $16,000 for Pitt Hopkins research—surpassing our $15,000 goal! 

Every dollar helps move Pitt Hopkins research forward, and we are so grateful to everyone who helped make this possible.

Thank you for riding with us, believing in our families, and investing in a future with better treatments for Pitt Hopkins syndrome! 

The development of NNZ-2591, Neuren Pharmaceuticals’ investigational treatment for Pitt Hopkins syndrome, continues to move forward. Following encouraging Phase 2 results, Neuren has been working with the FDA on the design of the next clinical trial. In February 2026, Neuren announced that FDA feedback provided additional guidance on the potential design and outcome measures for a future controlled Pitt Hopkins study.

While the next trial has not yet begun, this continued progress is an important step toward advancing NNZ-2591 through clinical development and, ultimately, toward a potential treatment for Pitt Hopkins.

During our July 2026 Pitt Hopkins Research Foundation Virtual Symposium, the Neuren team provided an update on the NNZ-2591 program and answered questions from our community.

Watch the Neuren presentation from our 2026 Virtual Symposium → https://youtu.be/o0LXRCgP8C8?si=rcqGcGYGQcUAIEkh

We are grateful to Neuren for their continued commitment to Pitt Hopkins research and look forward to keeping our community informed as this program moves forward.

Pitt Hopkins Families Take Their Voices to Capitol Hill

On Wednesday, March 18, Pitt Hopkins families joined Mahzi Therapeutics on Capitol Hill for an important day of advocacy—and it was a powerful one.

Families met with members of Congress and their staff to share their personal experiences with Pitt Hopkins and advocate for meaningful progress in rare disease research, clinical development, and regulatory clarity.

For our families, this work is urgent. It is about time, access, and opportunity—and making sure children and adults living with Pitt Hopkins have the chance to benefit from the scientific progress happening around them.

Having families in Washington, D.C., sharing their stories directly with lawmakers puts a face and a voice to Pitt Hopkins. These conversations help policymakers understand the challenges rare disease families face and why continued investment and thoughtful regulatory pathways matter.

A huge THANK YOU to all of the Pitt Hopkins families who showed up, shared their stories, and made their voices heard—and to the entire Mahzi Therapeutics team for standing alongside our community.

We are building momentum, raising our voices, and advocating for a future where Pitt Hopkins treatments are within reach. And we’re not slowing down.

We’re pleased to share that recordings from the 2026 Pitt Hopkins Scientific Symposium are now available for families, clinicians, and researchers interested in learning more about the latest progress in Pitt Hopkins research.

The recordings can be accessed here: https://pitthopkins.org/2026conference

To help protect the confidentiality of unpublished research and respect the work of our presenters, access requires a passcode. If you would like the passcode, please email information@pitthopkins.org.

Thank you to our researchers, presenters, families, and supporters for being part of this important journey. Together, we continue to advance understanding, collaboration, and hope for the Pitt Hopkins community.

We can't wait to be together in-person in 2027 - be on the lookout for information in the coming months!

November 13, 2026

The Pitt Hopkins Research Foundation is proud to host an Externally-Led Patient-Focused Drug Development (EL-PFDD) Meeting with the U.S. Food and Drug Administration (FDA).

This virtual meeting is an important opportunity for individuals with Pitt Hopkins syndrome, families, and caregivers to share their experiences directly with the FDA and help shape the future of Pitt Hopkins research, clinical trials, and potential treatments.

Your voice matters. The FDA needs to hear directly from the people and families living with Pitt Hopkins—what matters most, the challenges you face, and what meaningful improvements in treatment could look like.

The more voices we have represented, the stronger our community’s impact will be.

Mark your calendar for November 13, 2026 and plan to join us from wherever you are in the world. More details, including RSVP information and how you can participate, will be shared as the meeting gets closer.

Learn more about the EL-PFDD meeting:
www.pitthopkins.org/pfddmeeting

Save the date. Share your voice. Help shape the future of Pitt Hopkins.

We're thrilled to share that over 80 Pitt Hopkins families have joined our community on Citizen Health! This growing platform offers families multiple ways to easily support research and access valuable resources for their care journey.

A Major Research Milestone

Those same 80+ families have contributed their de-identified data to the Pitt Hopkins Natural History Study – a significant achievement that's making a real impact. Industry partners and researchers are actively using this data right now to drive forward research and advance our understanding of potential treatment options.

Did you know what else you can do on Citizen Health?

Beyond contributing to this crucial research, families can now access the new AI Advocate feature. This secure tool allows you to chat directly with your child's medical history, getting instant answers to the questions that matter most for your care journey. Log in to try it out now.

Did you know the Pitt community also participates in Citizen's revenue share program? When the de-identified data is used in a commercial research project, our families and organization share in that revenue, with over $35,000 shared back to date!

What's Next: Growing Our Impact Together

Our goal is to reach 150 families in our Citizen Health community. More families means a richer research dataset and access to more comprehensive tools and insights to support everyone. Every family that joins strengthens our collective effort to advance Pitt Hopkins research and improve outcomes for our children.

Ready to be part of something bigger? Visit Citizen Health to join our community today. https://www.citizen.health/partners/phrf