Mill Valley, CA – May 31, 2026 – CURE SYNGAP1 [aka SynGAP Research Fund (SRF)] commits $92,892 to broaden access to clinical care and clinical trials for patients and families for whom travel is an obstacle to participation. Funding for “Validating Remote Developmental Assessments in SYNGAP1-Related Disorders” is awarded to co-PIs Julie Orlando DPT, PhD of The Center for Epilepsy and Neurodevelopmental Disorders at U Penn and Dr. Jillian McKee of Children’s Hospital of Philadelphia from CURE SYNGAP1.

SYNGAP1-RD is a complex neurodevelopmental disorder characterized by autism, epilepsy, intellectual disability, motor impairments & psychological issues. While over 120 patients have been assessed in-person through CURE SYNGAP1’s ProMMIS Natural History Study, a data gap is emerging for adolescents aged 12–18. Families in this demographic often face significant travel hurdles due to the behavioral challenges associated with the disorder. CURE SYNGAP1 estimates that at least 20% of the diagnosed patients who are in contact with us are in this age range.

Expanding the current data set:

For investors and industry partners as well as the SYNGAP1 community, this study is a critical step in de-risking future drug development. By comparing remote assessment reliability against traditional in-person testing, the project seeks to:

• Validate remote endpoints: Establishing robust, remote-friendly metrics is essential for global clinical trials within rare disease.
• Increase patient recruitment and retention: Lowering the burden on families speeds up data collection and stabilizes longitudinal studies.

Dr. Jillian McKee MD, PhD is also the PI on the SYNGAP1 ProMMiS Natural History Study at CHOP and the lead for the Data Coordinating Center for all ProMMiS sites. CURE SYNGAP1 also funds the data platform for Patient Reported Outcomes (PROs) via RARE-X, a part of Global Genes (see the accompanying Press Release today). 

“Our mission includes making sure no patient is left behind. Currently many patients are left out of clinical research because of logistical challenges due to symptoms of their diagnosis,” said Kathryn Helde, CSO at CURE SYNGAP1. “By meeting families where they are—in their own homes—we are building a more complete understanding of SYNGAP1-RD and better preparing for life-changing treatments.”

“We are excited to work with the SYNGAP1 community to evaluate the validity of a standardized remote developmental assessment, with the potential to reduce travel burden for children and families who may not be able to access a clinical trial site in person. This work represents an important step toward making research participation more accessible and inclusive for families” said Julie Orlando, PT, PhD and Principal Investigator on the grant.

Collaborative Funding & Strategic Growth

ProMMiS Consortium: Partnering for Clinical Excellence

ProMMiS is fueled by a unique collaboration between CURE SYNGAP1 and dedicated industry partners. This consortium is designed to sustain and expand the ProMMiS infrastructure, ensuring the long-term viability of our Natural History Study and clinical programs.

Support for the Consortium goes beyond financial contributions; it is a true strategic partnership. Industry partners are active participants, joining quarterly meetings to provide expert input and contribute to the program’s evolution. This collaborative ecosystem ensures that the research remains robust, scalable, and aligned with the urgent needs of the SYNGAP1 community.

Partnership Levels and Data Access

In exchange for their vital support, consortium partners gain access to critical insights based on their level of commitment:

• Supporter Level: Partners receive regular data updates, keeping them informed of the latest developments and trends within the study.
• Pioneer Level: At this premier tier, partners also sign dean SRA with our data coordinating center. This provides direct access to raw de-identified data, the opportunity to inform IRB changes, and an integrated role in the study’s strategic direction.

Through these partnerships, CURE SYNGAP1 is not only funding research but building the collaborative framework necessary to accelerate the path toward effective treatments.

Family Giving: Driving Change Through Community Support“The commitment of families drives our mission forward, providing the critical resources needed to advance groundbreaking research,” said Suzanne Jones, Chair of the CURE SYNGAP1 Board of Trustees. “These donations are a testament to the power of the community in creating meaningful change for those living with SYNGAP1-Related Disorders.”

About SYNGAP1-Related Disorders (SRD)

SYNGAP1-Related Disorders (ICD-10 F78.A1) are a rare genetic disorder caused by variants on the SYNGAP1 gene that reduce SYNGAP1 protein levels. CURE SYNGAP1 has identified over 1,761 SRD patients to date, and the number grows weekly. This protein acts as a regulator in the synapses (where neurons communicate with each other). When SYNGAP1 protein levels are too low, we see an increase in excitability in the synapses making it difficult for neurons to communicate effectively. This leads to @many neurological issues seen in SRD patients.

Symptoms of SRD include primarily neurological issues including autism spectrum disorder (ASD), global developmental delay leading to intellectual disability, epilepsy, hypotonia (low muscle tone), gross and fine motor delays, and visual abnormalities such as strabismus (crossed eyes) as well as disordered sleep and gastrointestinal challenges.

CURE SYNGAP1 Grant Funding

CURE SYNGAP1’s grant program awards pilot, one-year and two-year grants to researchers and clinicians studying SYNGAP1. Basic, clinical and translational research are funded to fulfill the mission of accelerating the availability of safe and effective therapies and cures for all people living with SYNGAP1-Related Disorders. This blog describes seven categories of funding that comprehensively cover all grants awarded.  Current funding priorities include essential milestones for clinical trial readiness. 

About CURE SYNGAP1

Founded in the US in 2018 as a 501(c)(3) public charity, CURE SYNGAP1 is dedicated to accelerating the availability of safe, effective, disease-modifying treatments for everyone living with SYNGAP1-Related Disorders (SRD). The same mission is shared by the CURE SYNGAP1 Collective, a global collaboration of 10 member organizations—including Syngap1 Argentina, SynGAP Research Fund Australia, SynGAP Research Fund EU, SYNGAP1 India, Fondo de Investigación SynGAP (Latin America), Razem dla Syngap1 (Poland), ASSOCIAÇÃO CSP (Portugal), SYNGAP1 España, Syngap1 UK.

By working closely with patients, clinicians, researchers, and regulatory authorities, we ensure clinical programs are scientifically rigorous and responsive to our community’s lived experience. As of December 31, 2025, CURE SYNGAP1 has committed over $8 million in research grants to drive progress toward a cure. See past Impact Reports and Annual Reports at cureSYNGAP1.org/Impact.

For more on CURE SYNGAP1, visit cureSYNGAP1.org; subscribe to the CURE SYNGAP1 Podcast, SYNGAP1 Stories, and Café SYNGAP1; and follow @cureSYNGAP1 on LinkedIn, YouTube, Instagram, Facebook, TikTok, or X.

CURE SYNGAP1 is a member of FasterCures, COMBINEDBrain, Global Genes Foundation Alliance, Everylife Foundation Community Congress, Epilepsies Action Network, Personalized Medicine Coalition, Rare Epilepsy Network, Epilepsy Leadership Council, Alliance for Genetic Etiologies in Neurodevelopmental Disorders and Autism (AGENDA), California Action Link for Rare Diseases, American Brain Coalition, Genetic Alliance UK, Rare Disease UK, Syndromes Without a Name (SWAN UK), Jumpstart Program, Patient Worthy, Autism Brain Net, Innovation and Value Initiative, Rare Disease Diversity Coalition, Cambridge Rare Disease Network, Breaking Down Barriers, Rare-X, Mencap, IndoUSRare, The World Orphan Drug Congress, and Research America.

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