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.

As always, get the full story here.

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.

Get full  announcement and access details here.

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 hasFast 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.

In our first newsletter of this new year, we're excited to share with you CureSHANK's 2026 priorities, new executive staff members, a Team CureSHANK LA Marathon update, and two new columns: the CSO Science Corner, in which Dr. Ralf Schmid will discuss and detail PMS news and scientific updates each month, and Resources for Researchers and Companies, a curated list of courses, funding, and research opportunities for those working to accelerate treatments and therapies for PMS and SHANK3-related disorders.

Warmest wishes for the New Year and the year ahead. Get the full story here.

We are calling academic investigators and biotechnology companies developing therapeutics for neurodevelopmental diseases to submit innovative therapeutic concepts that could be advanced toward clinical development for PMS.

Submissions will inform future CureSHANK strategy, including potential funding calls and partnerships, and will enable infrastructure development.

The full announcement and additional information can be found here.

Responses are due by Feb 15, 2026. Inquiries can be submitted to CureShank's Chief Science Officer Ralf Schmid at rfi@cureshank.org.

In this issue, we share our 2025 Impact Report, Giving Tuesday #TogetherToday campaign updates, Start Genetic sponsorship opportunities, a 2026 Genetic Testing Action Day announcement, and we welcome Dr. Ralf Schmid to the CureSHANK team.

Get the full story here:
https://conta.cc/3Mp1VyY

As we close out 2025, we are proud to reflect on a year marked by unprecedented scientific progress and bold steps forward in our mission: accelerating the development of effective therapies for Phelan-McDermid syndrome (PMS). Our strategy has focused on removing barriers, building foundational tools, and enabling industry-grade research — all designed to ensure that the PMS therapeutic pipeline expands, accelerates, and ultimately delivers safe, effective treatments to our community.

In this issue, you'll find SHANK3-related epilepsy news, clinical trial updates, a new autism partnership program, and a CureSHANK request for information (RFI). 

As it's the season of Thanksgiving, we're happy to share some of the things we're grateful for: our recent phamily gathering in Chicago (where we also held our 2026 executive planning sessions!), a heartfelt bequest from a dear friend, and the generosity of a community who came together to help accelerate PMS research.

Get the full story here: https://conta.cc/4odToNz

Jaguar Gene Therapy update as of #PMSAD October 22, 2025.

In this issue, we share updates from the recent Respect 4 Neurodevelopment Conference, a look at symptom-targeted investigational therapies, new opportunities to participate in research, and downloadable PMSAD resources.

Get the full story here: https://conta.cc/3KCx55b.

Oryzon announced the launch of its HOPE-2 clinical trial in the EU today. The trial will test the safety and efficacy of its drug, vafidemstat, in treating PMS. The company also voiced support for and sponsorship of CureSHANK’s first-ever burden of illness study. Get the full story here: https://finance.yahoo.com/news/oryzon-sponsor-first-phelan-mcdermid-120000905.html.

In this issue, we share CureSHANK news headlines, BOI study progress, new opportunities to participate in research, a RARE Drug Development Symposium recap, upcoming community events, and more. Get the full story here: https://conta.cc/46GfYH9.

In this issue of CureSHANK Community News, we’ll tell you about a milestone hire for our CureSHANK team, key takeaways from our second annual Phelan-McDermid Syndrome Drug Development Symposium (PMSDDS), JAG201 clinical trial updates, surprising findings from our study of genetic testing labs, project news, and more.

Get the full story here: conta.cc/45rWnK8

Start Genetic is a national movement dedicated to raising awareness about the critical role of genetic testing in helping to accelerate answers for children with developmental delays and unexplained health concerns.

We are pleased to announce the launch of the first-ever license-free, gold-standard SHANK3 mouse model. By Q4 2025, this mouse model's availability will bypass the financial barriers posed by licensing fees. We will soon add a customizable preclinical mouse testing service with a partner CRO.

Combined, these tools will save companies tens of thousands of dollars and up to an entire year of work. Stay tuned for more announcements on this project soon!

Last week, Geraldine Bliss attended the American Society of Gene and Cell Therapy (ASGCT) Annual Meeting in New Orleans on behalf of CureSHANK. Her participation reflects our unwavering commitment to staying at the forefront of research and innovation for the Phelan-McDermid syndrome (PMS) community. ASGCT is the premier international forum for advancements in gene and cell therapy, and Geraldine’s presence ensured that the unique needs of our community were represented in critical conversations. Her key takeaways—from gene editing to emerging delivery strategies—offer an invaluable window into the promising (and complex) path ahead for PMS therapeutics.

Jaguar Gene Therapy would like to inform the Phelan-McDermid syndrome (PMS) community that the JAG201 clinical study record has been published and is now available on ClinicalTrials.gov, a U.S. government website and online database of clinical research studies.

Phelan-McDermid syndrome is highly under-diagnosed, but it is still a #raredisease!

We are happy to support #RareDiseaseDay on this rarest of days, the 29th of February!

Thank you so much to Sugar Land Rotary Club for putting on a wonderful charitable 5k benefitting CureSHANK! Despite the rain and cold, the turnout at Running with a Heart - Sugar Land Rotary 5K near Houston, TX was substantial!

It is a very exciting day for the PMS community: FDA has cleared Jaguar's JAG201 for Phase 1 clinical trials! JAG201 is a gene therapy addressing SHANK3 deletions and variants, which cause Phelan-McDermid syndrome.