Dr. Megan Abbott and the University of Colorado awarded $450,000 establishing a Clinical Research Center of Excellence that will also serve as a second site for SYNGAP1 ProMMiS

(Press-News.org) Mill Valley, CA – March 11, 2025 – The SynGAP Research Fund (SRF) dba Cure SYNGAP1, a 501(c)(3) nonprofit organization, has awarded a $450,000 grant to Dr. Megan Abbott and the University of Colorado to establish a Clinical Research Center of Excellence for SYNGAP1-Related Disorders at Children’s Hospital Colorado (CHCO).

This initiative expands the already established Natural History Study to the SYNGAP1 Prospective Multidisciplinary Multisite Study (ProMMiS) while providing specialized care for individuals affected by SYNGAP1-related disorders (SRD).

Why We Supported This Project SYNGAP1-related disorders (SRD) severely impact neurological development, leading to intellectual disabilities, epilepsy, autism spectrum disorder (ASD), and other complex challenges. Despite these profound effects, access to specialized care and clinical research opportunities remains limited. ProMMiS aims to bridge this gap by expanding expert care and advancing research. Establishing a second clinical site at CHCO strengthens this effort, ensuring more families receive high-quality, coordinated care while contributing to critical data collection for future treatments.

Furthermore, SRF is committed to accelerating both patient care and research. This grant supports Dr. Abbott’s initiative, which enhances access to specialized treatment and enriches the clinical data necessary for therapeutic development. By expanding ProMMiS, SRF is building the foundation for future clinical trials and ultimately, better outcomes for SYNGAP1 patients.

Developing a Clinical Outcome Measure Dr. Abbott has a research interest in developing outcome measures for DEEs including SYNGAP1-related disorders (SRD).  As part of this overarching interest, she plans to collect in the clinic an outcome measure previously developed for CDKL5 – the CDKL5 Clinical Severity Assessment, both clinician and caregiver reported. Collecting this measure in patients with SRD will provide valuable information on whether this outcome measure is appropriate and could be adapted to become an outcome measure for SRD. 

To learn more about this project, please see Dr. Abbott’s presentation at the 2024 SRF SYNGAP1 Conference, available on YouTube.

Quotes from SRF and Clinical Leaders “This project will require the PI to collaborate with another major academic institution (CHOP), develop a severity measure, and run a multidisciplinary clinic for patients with severe unmet need. It is ambitious and will be challenging. We are lucky we found someone in Dr. Abbott who has so much dedication, grace, and talent that there is no doubt she will succeed. The SRD community is grateful she took on this project,” says Mike Graglia, Founder of SRF.

“The first time I met Dr. Megan Abbott, I hoped she would work on SRD,” says Dr. Kathryn Helde, PhD, Chief Scientific Officer for SynGAP Research Fund. “I am beyond thrilled that she is bringing her experience with CDKL5 and other neurodevelopmental disorders to our families. SRF will succeed when Clinical Trials for disease-modifying treatments are successful. A key requirement is having multiple clinical sites, so this is an essential and exciting milestone.”

"I am thrilled to announce the launch of this multidisciplinary center of excellence for SYNGAP1,” Dr. Abbott stated. “Our mission is to accelerate research for the SYNGAP1 community by collecting high-quality natural history data and developing outcome measures that will support future disease-modifying therapy trials. But perhaps most importantly, we are deeply committed to providing specialized, compassionate care to SYNGAP1 patients and their families. Centers like this are only possible because of the dedication of the families and the unwavering support from the SynGAP Research Fund. We are profoundly grateful for their commitment, and I am excited to begin working with and supporting Syngapians and their families here in Colorado."

Family Donations Make Progress Possible Advancing research and improving care for SYNGAP1 patients would not be possible without the dedication of families, advocates, and donors. Every contribution to SRF fuels initiatives like ProMMiS, accelerating the path toward meaningful treatments.

The establishment of this clinical site is a testament to the SYNGAP1 community’s commitment to progress. Through fundraising, advocacy, and participation in research, families are shaping the future of SYNGAP1 care. Their support enables researchers and clinicians to drive science forward, improve care models, and work toward life-changing therapies.

“This is a huge step forward, and it’s only happening because of the families who believe in this mission,” said Anthony Navarro, Resource Mobilization Director at SRF. “Every donation, every fundraiser, every effort to spread awareness—it's all adding up to real change. We’re not just hoping for better treatments; we’re actively building the infrastructure to make them possible. That’s what this grant represents, and I couldn’t be more excited for what comes next.”

About Dr. Megan Abbott Dr. Megan Abbott is a pediatric epileptologist at Children’s Hospital Colorado, embarking on a career in clinical research focused on outcome measures in developmental and epileptic encephalopathies (DEEs) including SYNGAP1. She aims to establish new multidisciplinary clinics, generate gene-specific datasets, and devise outcome measures applicable to various DEE populations. Having grown up with a brother with special needs, she has both a personal and professional connection to working with rare disease families. She is excited to begin this work with SYNGAP1 with the hope that we can advance further towards clinical trial readiness and disease modifying therapies.

About SYNGAP1-Related Disorders (SRD) SYNGAP1-related disorders (ICD-10 F78.A1) is a rare genetic disorder caused by variants on the SYNGAP1 gene that reduce SYNGAP1 protein levels. SRF has identified over 1,530 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 SYNGAP1 patients.

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

About SRF’s Seven Scientific Programs SynGAP Research Fund has seven scientific programs. These programs reflect SRF’s urgency to develop disease modifying treatments. These include the following:

BTS - Basic and Translational Science Purpose - Drug Repurposing SMART - SYNGAP1 Missense Analysis, Research & Therapeutics SBOM - SYNGAP1 Biomarkers & Endpoints Facilitate - Develop and Share Research Tools and Reagents SRDC - SYNGAP1-Related Disorders Characterization ProMMiS: Prospective Multidisciplinary, Multisite Study for Clinical Excellence - Natural History Study at Multidisciplinary Clinics This grant falls into the ProMMiS program. A highly curated prospective study, executed across multiple multidisciplinary clinics, is needed to describe “standard of care” when testing new treatments. Also builds future trial sites.

About the SynGAP Research Fund The mission of the SynGAP Research Fund (SRF) dba Cure SYNGAP1 is to improve the quality of life for SYNGAP1 patients through the research and development of treatments, therapies, and support systems.

SRF was founded in the US in 2018 as a 501(c)(3) US public charity.  There are sister organizations founded by local families in the UK in 2020, Europe (Netherlands) in 2022, as well as both Australia & Latin America (Colombia) in 2023.

Completely family-led, SRF is a leading funder of SYNGAP1 research having committed over $6.2 million in grants to date. SRF’s grant program awards one or two-year grants to investigators, physician residents, and clinicians interested in studying SYNGAP1. SRF grants are intended to help researchers explore novel ideas and answer open questions related to the clinical aspects of and therapies for SRD.

For more on SRF, visit cureSYNGAP1.org or follow @cureSYNGAP1 on LinkedIn, YouTube, Instagram, Facebook, TikTok, or X.

SRF 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, and The World Orphan Drug Congress.

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