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Dear CureSHANK families, supporters, sponsors, and partners,
Last month, we shared our plan to Accelerate, Collaborate, and Engage in 2026. In this issue, we're up and running — literally — with updates on Team CureSHANK's L.A. Marathon training (which you can support here), our therapeutic approaches to PMS RFI, conferences we'd love to connect at, dates for our third annual PMS Drug Development Symposium, and new resources for researchers.
With hope and gratitude,
The CureSHANK Team
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Request for Information (RFI):
Innovative Therapeutic
Approaches for Phelan-
McDermid Syndrome
There’s still time to share your breakthrough therapeutic ideas! We welcome your submissions and want to hear from every corner of the scientific community — whether you're an experienced PMS researcher ready to outline a clear path from concept to clinical development, or you have a novel strategy or technology platform originally designed for another condition that could spark fresh innovation in PMS therapy development, your insight could help shape the next wave of progress at CureSHANK!
The full announcement and additional information can be found here.
Responses are due by February 15, 2026. Inquiries can be submitted to Chief Science Officer Ralf Schmid at: rfi@cureshank.org.
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CureSHANK President Joins National Epilepsy Education Faculty
CureSHANK is proud to share that our co-founder and president, Geraldine Bliss, is serving on the faculty of the Not So Rare Epilepsies ECHO series, Integrating Genetic Insights Into Clinical Care, which launched in January.
The (Not So Rare) Epilepsies ECHO is a nationally recognized educational program that connects leading epilepsy experts with frontline clinicians across the U.S. and internationally to strengthen diagnosis and care for individuals with rare and genetic epilepsies. As a Faculty Discussant, Geraldine brings the caregiver and patient-advocate perspective to case-based discussions, helping ensure that lived experience remains central to clinical decision-making.
Geraldine's participation reflects CureSHANK’s continued commitment to advancing education, collaboration, and real-world impact for the rare epilepsy and neurodevelopmental disorder communities.
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Start Genetic Seeks Sponsors
CureSHANK is actively seeking sponsors for Start Genetic, our initiative to increase awareness and access to genetic testing. If your company is developing a treatment for genetically-defined disorders or is involved in the rare disease space, we're eager to receive your support as a sponsor leading up to July 25, the second annual Genetic Testing Action Day.
To learn more, please email us at takeaction@startgenetic.org or click here for sponsorship package information.
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UPDATE & INVITATION:
Pre-Competitive
Industry Consortium
The CureSHANK Industry Consortium unites scientific leaders to accelerate innovation in Phelan‑McDermid syndrome (PMS). By fostering idea sharing, strengthening peer collaboration, and building shared resources, the Consortium is driving deeper understanding and advancing PMS research.
Current projects include a collaboration with Boston Children’s Hospital that uses data from the Developmental Synaptopathies Consortium’s Natural History Study to identify meaningful PMS‑specific outcomes and outcome measures.
Our mission is to bring the scientific community together in a pre‑competitive space to tackle shared challenges and move treatments forward for families. Industry partners interested in joining the CureSHANK Industry Consortium can contact: research@cureshank.org to learn more.
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COMING SOON:
Burden of Illness Study
CureSHANK is sponsoring a PMS Burden of Illness Study, conducted by Broadstreet HEOR, to better understand the real-world impact of Phelan‑McDermid syndrome on individuals and their caregivers.
This study will quantify aspects of daily life that are often overlooked, including healthcare utilization, caregiving time, out-of-pocket costs, and the effects of PMS on daily functioning, sleep, and quality of life.
Broadstreet is currently developing a survey tailored specifically to the PMS community and finalizing study materials.
We anticipate the study will open for participation next month. When it does, we hope you will consider sharing your experiences to help make the hidden impacts of PMS more visible.
The results of this study will help inform future research priorities and policy decisions, supporting better understanding and stronger advocacy for the PMS community.
| | | | CURESHANK IN THE COMMUNITY | | |
CureSHANK to Join RDCRN, NIH for Rare Disease Day
On Friday, February 27, CureSHANK executive director Jeff Howard and board member Jenny Graham Beeson will attend Rare Disease Day at NIH, as part of the global Rare Disease Day observance.
All are welcome to attend the event, either in person at the NIH main campus in Bethesda, MD, or virtually, by pre-registering. The event will run from 9 a.m. to 5 p.m. EST. The day's full agenda can be seen here.
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SAVE THE DATE: CureSHANK's
Third Annual PMS Drug
Development Symposium
Be part of a focused, high‑impact gathering dedicated to accelerating therapeutic development for PMS. Over two days at Cure in midtown Manhattan, NYC, leading experts in preclinical and clinical research will unpack the latest advances in translational science, clinical trial design, endpoint strategy, biomarker development, and more.
The event will culminate in a dynamic forum of drug developers and investors who will share real world insights, challenges, and opportunities in neurodevelopmental disease therapeutic innovation.
If you’re committed to shaping the next generation of PMS treatments, this is where the conversation moves forward. Registration and program details will follow soon.
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“Like the marathon, CureSHANK's work is about showing up every day — because that's how breakthroughs happen.”
— Anne Theisen
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UPDATE: Team CureSHANK & Runner Spotlight
Each month leading up to the L.A. Marathon, we're sharing stories of the incredible athletes who make up Team CureSHANK — runners who are turning miles into momentum for PMS research.
Anne Theisen: Running Toward Hope
Elite marathoner Anne Theisen understands that the most meaningful victories are earned one step at a time. That belief is at the heart of why she runs for CureSHANK.
Anne is racing for her great-nephew Darus and for his mom, Abby — people she loves fiercely. For Anne, supporting CureSHANK isn’t just about crossing a finish line; it’s about showing up, consistently and wholeheartedly, to help move hope forward. She sees a powerful reflection of marathon training in CureSHANK’s mission: the daily effort, the perseverance, and the unwavering belief that all of the work will one day lead to a breakthrough. Anne runs to help get us there faster.
Marathon training has taught Anne that growth lives on the other side of hard things. Every training cycle challenges her, stretches her, and reveals something new about who she is and what she’s capable of.
Yet for all her accomplishments as an elite marathoner, Anne’s favorite part of running isn’t the accolades. It’s the people. The friendships formed on long runs, the shared determination, and the community that lifts one another up. That joy, that connection, is what fuels her miles.
We are deeply grateful to Anne for running with purpose, heart, and hope. Her dedication reminds us that progress — on the road and in research — is built mile by mile, step by step, together.
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What’s in Store for PMS Therapy Development in 2026?
Just a few weeks ago, biopharma leaders, analysts, and investors gathered in San Francisco for the 44th annual JP Morgan Healthcare Conference. The brilliant sunshine felt symbolic — a welcome contrast to the challenges that defined 2025. As I listened at home to commentaries and interviews, a consensus emerged: last year tested both the financial markets, the FDA, and the NIH in unprecedented ways.
Endpoint News reported a notably negative sentiment across the biopharma community in its late summer survey (with the exception of weight loss drugs).
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Multiple waves of layoffs, program cancellations, and regulatory uncertainty hit industry and academic researchers hard. At the same time, the push toward manufacturing onshoring added internal pressures as research budgets tightened. Yet by the end of 2025, a shift was underway. Analysts and investors began expressing renewed optimism — an outlook that is gradually spreading to biopharma leadership. While recovery and stability may be slow, many expect that those who stepped to the sidelines will return and help re‑energize the sector as 2026 unfolds.
What does this mean for CureSHANK’s mission?
In close collaboration with our partners and stakeholders, I will continue to support ongoing and emerging clinical trials, providing the preclinical and clinical expertise needed to keep them moving forward. This year, we anticipate important updates from the Jaguar gene therapy program and the Neuren small‑molecule clinical trials — two major inflection points for the PMS community.
At the same time, we are expanding our efforts to identify and cultivate new therapeutic strategies. CureSHANK recently issued a Request for Information to uncover additional approaches and, importantly, new players in PMS therapy development. The response has already exceeded expectations: two companies previously unknown to us have reached out for support with their early stage internal PMS programs. We will also continue to strengthen our Accelerator initiatives and may launch additional projects as opportunities arise.
To catalyze early stage ideas with strong potential, CureSHANK will selectively offer seed funding to help transform promising concepts into viable drug or therapy candidates. As biopharma sentiment improves, investors — and ultimately, larger companies — will look for robust preclinical data packages to support investment, licensing, or acquisition. Our goal is to ensure that our PMS programs are ready for “show and tell” when that moment arrives.
Looking Ahead to a Busy 2026
As CureSHANK’s leader of therapeutic research, I anticipate a full and productive year. We have planned outreach across diverse audiences, including investor events, scientific conferences, and the NIH Rare Disease Day. We are also in the final stages of organizing the annual CureSHANK Drug Development Symposium, which will take place in April.
As always, I welcome questions, comments, and suggestions at: research@cureshank.org.
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JAG201 Gene Therapy Study
Jaguar Gene Therapy seeks children with PMS ages 2-9 years old for an open label dose escalation study of JAG201 administered via intracerebroventricular (ICV) injection. This is an interventional trial.
Contact a trial site listed below for detailed eligibility requirements.
Seaver Autism Center at Mount Sinai, NYC, NY
Contact: serena.cai@mssm.edu
Principal investigator: Alex Kolevzon, MD
Rush University, Chicago, IL
Contact: giulia_dimarco@rush.edu or
312-942-9841
Principal investigator: Elizabeth B Kravis, MD, PhD
Boston Children's Hospital, Boston, MA
Contact: anna.cronin@childrens.harvard.edu
or 617-919-3499
Principal investigator: Siddharth Srivastava, MD
Learn more
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PMS Koala Study for NNZ-2591 - Neuren Pharmaceuticals
Neuren Pharmaceuticals' Koala study explores an investigational treatment that may potentially improve symptoms in children with Phelan-McDermid syndrome.
Contact: medicalinformation@neurenpharma.com to find out more and see if the Koala study could be a good fit for your child.
Learn more
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Baylor College of Medicine Natural History Study of Epilepsy in PMS
The Baylor College of Medicine Natural History Study of Epilepsy in PMS is an investigational, virtual study open to individuals of all ages with PMS who have epilepsy or a history of seizures. Participation involves allowing the research team to access medical records to collect information such as seizure history, medications, and diagnostic imaging, all of which is kept confidential and de-identified. The goal is to improve understanding of epilepsy in PMS and guide future research and care.
Learn more
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ORTAS Toileting Abilities Survey
COMBINEDBrain seeks parents or caregivers of people with PMS and non-PMS siblings ages 1-6 for a simple, 20-30 minute survey on toileting abilities for a research study.
Contact: ORTAS@combinedbrain.org for participation details.
Learn more
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Lurie Center At Home Sleep Study
The Lurie Center at Mass General seeks children with PMS ages 12-19 for a remote, at-home sleep research study.
Contact:
mghluriecentersleepheadbandstudy@mgb.org
or 617-917-4395
Learn more
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RTI PMS-Specific Endpoint Study
This research study seeks people with PMS ages 3-14 years and caregivers/legal guardians 18+ years for a Caregiver Impression of Change (CIC) form that measures changes in PMS over time.
Contact: Emily Cheves
echeves@rti.org or
919-698-0439
Learn more
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Jaguar PMS Natural History Study
This research study seeks people with PMS ages 12-36 months old who can travel to one of the sites listed below. Travel stipends may be available through PMSF.
Icahn School of Medicine at Mt. Sinai, NYC, NY
Contact: Serena.cai@mssm.edu
Rush University Medical Center, Chicago, IL
Contact: Madison_t_nava@rush.edu
Boston Children’s Hospital, Boston, MA Contact: Anna.cronin@childrens.harvard.edu
Learn more
| | RESOURCES FOR RESEARCHERS & COMPANIES | | |
For details on CureSHANK's curated list of funding opportunities, please click here.
Open or coming soon:
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Global Collaboration Launches Streamlined-Access to Shank3 cKO Research Model
Today, a new global collaboration between CureSHANK, Innoser, and Ozgene is streamlining access to a next-generation research tool: the Shank3 cKO mouse model. By combining genetic accuracy with simplified access, this new model aims to accelerate the development of new therapies for Phelan-McDermid syndrome (PMS).
Why this matters for research:
Predictable Access: Researchers worldwide can now obtain study-ready animals directly through Ozgene under standard use licenses, without complex IP claims or downstream royalties.
Robust Discovery: This genetically precise model removes all major SHANK3 isoforms, enabling diverse research objectives, from studying synaptic biology to evaluating new gene therapies and ASOs.
Scalable Solutions: To further support translational programs, InnoSer is developing a standardized preclinical testing platform to deliver reliable behavioral and biomarker results.
By simplifying how we obtain and use these resources, CureSHANK and its partners hope to accelerate the path to urgently needed treatments and bring hope to patients faster.
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First Patient Dosed in Neuren’s Phelan-McDermid Syndrome Phase 3 Trial
Neuren Pharmaceuticals reported today, February 6, that the first participant in its Koala Phase 3 clinical trial of NNZ-2591 for Phelan-McDermid syndrome (PMS) has completed the 4-week screening period and commenced the 13-week period of twice-daily dosing.
Koala is a Phase 3, randomized, double-blind, placebo-controlled clinical trial evaluating the safety and efficacy of NNZ-2591 in approximately 160 children aged 3 to 12 years with PMS. A screening period of up to 4 weeks is followed by treatment with NNZ-2591 or placebo for 13 weeks. The program has Fast Track, Rare Pediatric Disease and Orphan Drug designations from the US Food and Drug Administration.
More participants are scheduled to start dosing or start screening in February and March. To date, 25 families have been referred to the two activated trial sites. At this early stage, 37 more families are already on waitlists for a trial site in a convenient geographical location, with two sites expected to activate in February and 20 more across the US progressing towards activation.
For further study details and clinical trial information, click here.
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