image: CURE SYNGAP1 partners with Global Genes, Kielo Research, and Citizen Health
Credit: CURE SYNGAP1, Global Genes, Kielo Research, Citizen Health
Mill Valley, CA — October 20, 2026 — As therapies for SYNGAP1-Related Disorders (SRD) advance toward clinical development, sponsors, regulators and payers will need evidence the field doesn't yet have: a rigorous accounting of what the condition costs patients, families and the health system. Today, CURE SYNGAP1 announced a program to close this gap, launching a comprehensive Economic and Humanistic Burden Study in partnership with Global Genes, Kielo Research, and Citizen Health.
The study will examine the broader impact of SRD on patients, caregivers and families, including quality of life, caregiving, independence, education, employment and the financial impact on families. It is the first major evidence initiative under REACH SYNGAP1, CURE SYNGAP1's new community-driven consortium.
While significant progress has been made in understanding the clinical characteristics of SRD, much of what patients and families experience every day is not fully captured by traditional clinical measures. This study is designed to help close that gap and provide data that can support future discussions with regulators, payers, policymakers and others involved in therapy development and access.
The partnership builds on relationships and research infrastructure that CURE SYNGAP1 has developed over several years. CURE SYNGAP1 has a long-standing partnership with Global Genes and uses Global Genes’ RARE-X research platform for SYNGAP1 ProMMiS, its prospective natural history study. The organization also works closely with Citizen Health on its retrospective natural history study. A significant number of SYNGAP1 families already participate across these platforms.
With the new partnership between RARE-X and Citizen Health, CURE SYNGAP1 sees an opportunity to build on its community’s existing participation rather than creating another disconnected research effort. The combination creates a stronger foundation for engaging families, connecting different types of patient data and supporting future studies as the SYNGAP1 research landscape continues to evolve.
The new study will adapt an existing caregiver burden survey developed for Angelman syndrome (Jarvis et al., Orphanet Journal of Rare Diseases, 2025) to reflect the specific experiences and needs of the SYNGAP1 community. The initial SYNGAP1 study in the U.S. is expected to include at least 125 SYNGAP1 caregivers, with families directly involved in the development and testing of the survey.
“SYNGAP1 is a devastating disorder that affects nearly every part of a patient’s and family’s life,” said Virginie McNamar, President and COO of CURE SYNGAP1. “It causes seizures, limits communication, interrupts sleep and severely limits independence, but it also affects education, employment, caregiving, family finances, and quality of life. Our families live this reality every day, but we need the data to show it. As treatments advance, we need to be able to clearly demonstrate the full burden of SYNGAP1 and what meaningful improvement can mean for patients and families.”
Mike Graglia, Founder & CEO of CURE SYNGAP1 added, “We are thrilled about this partnership. Global Genes, RARE-X, and Citizen Health are all trusted partners. They know the SYNGAP1 community well, and we know they are committed to making this study successful. Also, our families know both RARE-X and Citizen Health. More than half of our known U.S. population is already enrolled across these platforms. Together we will build the RWE we need to advocate for SYNGAP1 families.”
Global Genes will lead the study, including survey development, family engagement and data collection through the RARE-X research platform, while Kielo Research, a Sanius Health company, will provide health economics expertise in survey methodology and statistical analysis. Kielo’s leadership has been consulted by the U.S. Food and Drug Administration, the UK’s National Institute for Health and Care Excellence (NICE), and the European Commission, and its team brings deep experience in patient-centered outcomes research with more than 200 peer-reviewed publications.
“Proving that a therapy works is only part of the challenge. For a disease like SRD, the impact includes caregivers’ mental health, family stability and household finances- data that payers will need to make coverage decisions,” said Karmen Trzupek, Senior Director of Scientific Programs at Global Genes. “As therapy developers know, that evidence must exist before a new drug reaches the market. The evidence can’t be generated quickly enough afterward to prevent coverage delays. CURE SYNGAP1 is building it now, so families aren’t left waiting.”
Charlene Son Rigby, CEO of Global Genes added: “CURE SYNGAP1 is turning lived experience into evidence that regulators and payers cannot overlook. As the parent of a child with STXBP1 neurodevelopmental disorder, I know that the true burden rarely shows up in a clinic visit. It shows up at three in the morning, in the toll on family finances, in the strain on a caregiver that never gets a break. Families have carried this weight quietly for far too long. Developing this evidence precompetitively is an important strategy so multiple companies can use it; this is a model for rare disease foundations.”
The study is expected to produce a comprehensive report, peer-reviewed manuscript, scientific conference abstract, and poster, helping ensure the findings can be used broadly across the scientific, regulatory, and patient advocacy communities.
About REACH SYNGAP1
REACH — Regulatory, Evidence, Access, Community Empowerment, and Health Policy — is a community-driven, precompetitive program led by CURE SYNGAP1.
REACH was created to address an important challenge: much of the true impact of SRD on daily life, independence, families, caregiving and economic burden is not fully captured by traditional clinical measures. The program works with the SYNGAP1 community to identify what matters most, generate credible evidence around those experiences, and ensure the patient and caregiver's voice is represented in decisions that affect the community.
Through its five workstreams, REACH will bring together families, researchers, clinicians and industry partners to advance patient-informed regulatory engagement, generate evidence on disease burden and meaningful outcomes, prepare for future access and reimbursement needs, empower families to advocate effectively, and advance health policy priorities.
Current REACH priorities include the Economic and Humanistic Burden Study and a Patient Listening Session with the U.S. Food and Drug Administration scheduled for April 2027, along with continued work on patient-focused outcomes and family advocacy.
About Global Genes
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 the more than 400 million people around the globe, including nearly one in 10 Americans, affected by rare diseases. With over 890 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 globalgenes.org.
About Kielo Research
Kielo Research, a Sanius Health company, is a life sciences consultancy with deep expertise in patient-centered outcomes research across rare and chronic diseases. Its work spans burden-of-illness studies, patient preference research, development of clinical outcome assessments and real-world evidence generation. Kielo’s scientists have authored more than 200 peer-reviewed publications, contributed to regulatory, health technology assessment and payer submissions, and conducted studies in more than 30 countries. Learn more at kieloresearch.com.
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 1,871 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.
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). 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.
Completely family-led, CURE SYNGAP1 is a leading funder of SYNGAP1 research having committed over $9 million in research grants to drive progress toward a cure. You can learn more about CURE SYNGAP1 and their accomplishments by reading their most recent Impact Report.