Mill Valley, CA — May 19th 2026 — CURE SYNGAP1 is proud to announce a strategic investment of $111,960 in RARE-X to accelerate the collection of high-quality Patient-Reported Outcome measures (PROs) for the ProMMiS Natural History Study . This multi-year funding ensures that the patient voice is rigorously captured and integrated into the clinical development pipeline for SYNGAP1-Related Disorders .
Funding to RARE-X ( part of Global Genes ) provides a GDPR-compliant digital data platform, licensing and implementation of validated surveys to measure participant progress, ongoing coordination with clinical sites, and a safe data pipeline of results to be sent to the Data Coordination Center for the SYNGAP1 ProMMiS Natural History Study.
In addition to clinical visits, the ProMMiS study utilizes a decentralized data collection model, gathering critical insights reported by families, within a week of their clinic visit at one of three premier clinical sites:
To provide a comprehensive view of the SYNGAP1 phenotype, the ProMMiS study prioritizes 8 critical assessments that measure the daily realities of living with the disorder:
By investing in Participant (Caregiver, Parent, Patient-Reported Outcomes Measures, or PROs) via the state-of-the-art RARE-X data platform, CURE SYNGAP1 is bridging the gap between clinical observation and measurable trial endpoints. This data allows researchers to identify which symptoms are most impactful to families and provides the “gold standard” evidence required by regulatory bodies like the FDA to approve new therapies.
“This investment is a testament to our commitment to being ‘trial ready,'” said Virginie McNamar , President & COO of CURE SYNGAP1. “By centralizing this data at CHOP and leveraging the RARE-X platform, we are ensuring that every data point provided by our families is used to its maximum potential to attract industry partners and shorten the path to a cure.”
Kathryn Helde , CSO at CURE SYNGAP1, spoke about the promise of additional future benefits. “PROs are a crucial component of clinical trial design worldwide. We must gather this information and are in talks with other geographies to align as closely as possible on natural history measures. Furthermore, the side-by-side analysis of PROs and clinical measures will be the first step toward reducing the family burden in future clinical trials by employing decentralized measures. To do that, clinical measures must be compared to PROs.”
“We are honored to collaborate with and support the SYNGAP1 community on the ProMMIS study. Global Genes has long worked to provide rare disease patient advocates with the tools and resources they need to catalyze the development of treatments,” said Charlene Son Rigby , CEO of Global Genes. “The RARE-X platform enables robust collection of structured patient-reported and patient-provided data to power research and make that data available through responsible data sharing to researchers, clinicians, drug companies, and others in the rare disease ecosystem.”
“High-quality patient-reported outcomes are essential to understanding SYNGAP1 -Related Disorders as they are experienced day-to-day by individuals and families,” said Jillian McKee, MD, PhD , Principal Investigator of the ProMMiS natural history study. “This partnership with RARE-X strengthens ProMMiS by enabling consistent, secure capture of validated measures across sites, and it helps ensure the outcomes we track are meaningful for future clinical trials and therapy development.”
For more information on the ProMMiS Project and how to participate, please visit CURE SYNGAP1 .
Global Genes is a 501(c)(3) non-profit organization dedicated to eliminating the burdens and challenges of rare diseases for patients, their families and disease communities globally. For nearly two decades, we’ve equipped rare disease patients and advocates with tools, training and support – to connect patients with needed resources, activate communities and advance research. Global Genes serves more than 400 million people around the globe, and nearly one in 10 Americans are affected by rare diseases. With over 850 patient advocacy group members in our Global Advocacy Alliance, we work with patient advocates, industry partners and academia to build vital ecosystems to progress critical work in rare disease. Learn more at http://www.globalgenes.org .
RARE-X is the research program of Global Genes. RARE-X provides a highly scalable approach for rare disease data collection, delivered in partnership with patient advocacy groups. RARE-X’s global footprint includes more than 85 disorders from patients in over 90 countries. RARE-X’s innovative, collaborative model is patient-driven with research grade data, and is designed to accelerate research and advance urgently needed treatments. Learn more at http://www.globalgenes.org/about-us/about-rare-x/ .
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.
In exchange for their vital support, consortium partners gain access to critical insights based on their level of commitment:
Through these partnerships, CURE SYNGAP1 is not only funding research but building the collaborative framework necessary to accelerate the path toward effective treatments.
“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.”
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’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.
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 .