See official press release here.
SynGAP Research Fund partners with Dr. Tom Frazier, PhD, Quadrant Biosciences and Autism Analytica to develop and validate a battery of digital measures for completion by SRID patients in the comfort of their own home, with no hardware required beyond a laptop.
Why We Support This Project
Information on cognitive and behavioral functions has historically been dependent on in-person visits, which severely limited the amount of input and considerably slowed the process of information gathering. This digital platform would allow care-takers and patients themselves to relay this data through easy-to-complete, reliable questionnaires and by leveraging webcam performance measures that collect information on cognitive and behavioral processes directly from the individual.
Clinicians and researchers would both benefit from this efficient and consistent workflow. For clinicians, this would provide measures that screen for intervention opportunities. For researchers, the consistent data-analysis would allow for even more data-driven opportunities to conduct SYNGAP1 research, with the means to analyze and measure patterns and outcomes of developmental changes.
SRF Leveraging Significant Work Already Completed
The Quadrant Bioscience team has already built and tested their NET tool, which draws from a large bank of information volunteered by caregivers of a plethora of genetic syndromes – including SYNGAP1. The NET represents a set of questionnaire and webcam performance tools tailored to assess each patient’s specific strengths and weaknesses.
To collect and analyze the answers, a subsidiary company was created. Autism Analytica and its IPM digital platform (Identify, Predict, Monitor) would administer scores, reports, and provide recommendations based on NET tool results.
Originally made to meet the needs of suspected autism patients, the first goal of this research will be to identify the most appropriate measures for SYNGAP1 patients and to combine these measures to create an easy-to-use workflow for clinicians and researchers. SynGAP Research Fund (SRF) has a critical role in the development of this project as the main hub of caregivers, parents and SYNGAP1 patients.
Collaboration Facilitates Rapid Progress To Fill An Unmet Need
This partnership began with a 2021 #SRFFrazier grant to Dr. Frazier to include SYNGAP1 patients in a project led by the PTEN Research Foundation. SRF joined alongside two other rare disease groups: Malan Syndrome Foundation & ADNP Kids Foundation. The work has also been supported by Autism Speaks and SFARI.
“This collaboration and innovative funding model allowed us to include SYNGAP1 in this critical work at an achievable cost for a patient group,” says Mike Graglia, Managing Director of SRF. “This is only possible because of the collaboration, vision and hard work of Dr. Frazier – we are grateful to be included; thrilled to continue our work with Dr. Frazier.”
As SFARI said in their grant announcement “If the project aims are achieved, the NET (neurobehavioral evaluation tool) will be an efficient, reliable, valid, multi-modal instrument with co-normed measures, that, by virtue of online (at-home) administration, will decrease burdens on autistic children and their families, minimize the need for travel to expert centers and increase the temporal resolution and power of future longitudinal studies and clinical trials, with the potential for future use in clinical practice.”
“In simple terms, we don’t have enough ways to measure the progress (or lack thereof) of SYNGAP1 patients, and that is a risk for SRID Clinical Trials. If Dr. Frazier manages to establish the NET as such a measure, and we manage to ensure that SRID patients are included, then this will become a standard measure for observational studies, repurposing efforts and major clinical trials” says Dr. Marta Dahiya, MD, SRF’s Clinical Director and a SYNGAP1 parent.
“The first grant has contributed to two publications in the American Journal of Medical Genetics published in 2023, which is remarkable” said Suzanne Jones, Board Chair of SRF & a SYNGAP1 parent. The papers are Development of informant-report neurobehavioral survey scales for PTEN hamartoma tumor syndrome and related neurodevelopmental genetic syndromes&Development of webcam-collected and artificial-intelligence-derived social and cognitive performance measures for neurodevelopmental genetic syndromes.
“Both papers include data on over 40 SRID patients recruited by SRF – which is testament to the commitment of our families to support research and prepare for clinical trials” said Corey Baysden, Director of Community Activation for SRF & a SYNGAP1 parent. “We need better medicines for our children, and those require successful trials, which require tools to measure progress such as the NET.”
Family Donations Make Progress Possible
When asked about this work, Dr. Frazier said, “Funding from the SynGAP Research Fund has been essential to developing our online measures and shaping them to be most appropriate to the SYNGAP1 population. With this funding, we hope to refine our tool and make them widely available to clinicians and researchers.”
Peter Halliburton, SRF Director of Development, said “We are grateful to our donors for making it possible to support essential research such as the NET. All SYNGAP1 families are encouraged to join SRF in fundraising to accelerate SYNGAP1 research.”
Patient Caregivers Can Join the Study Now
Across a one year period, data from 80 SYNGAP1 responders (patients, caregivers or parents) will be collected to create a more detailed database of cognitive and behavioral functioning in SYNGAP1. Responders will provide information at baseline and 3-month intervals for a year. This will provide a more detailed longitudinal understanding of SYNGAP1 patients.
The questionnaire set measures eleven key domains of cognitive and behavioral functions, including: mood, motor, executive functioning, social communication, repetitive behavior, anxiety, challenging behaviors, sleep and attention. The webcam performance measures directly assess an additional twelve areas of cognitive and emotional functioning.
Dr. Frazier is now recruiting patients for the next study with the support of SRF. Interested participants should contact the research coordinator for this project, Katie Huba, BCBA KHuba@jcu.edu to learn more. They can also call 412-298-8749. The eligibility criteria are:
- SYNGAP1 diagnosis
- Between the ages of 2 – 60
- A participating parent or other knowledgeable information provider
- Access to a reliable internet connection
- Access to a tablet, laptop, or desktop computer with a webcam
- English is the primary spoken language
Dr. Frazier to present at Uniting for Progress, the SYNGAP1 Conference
Dr. Frazier will present updates of his work at the upcoming SYNGAP1 Conference 2023: Uniting for Progress in Orlando, Florida on November 30th, 2023. Researchers and clinicians are encouraged to register and join for a full day of updates on the rapidly expanding field of SYNGAP1 science and medicine.
About Tom Frazier, PhD
Dr. Frazier is a licensed psychologist with a PhD from Western Reserve University. He previously worked at the Cleveland Clinic Center for Autism and later became the Chief Science Officer at Autism Speaks. As part of his current work at John Carroll University, Dr. Frazier is focused on developing new measures to improve the assessment of autism and related genetic syndromes, including SYNGAP1. In the last decade, he has made it a life mission to improve diagnostic and assessment tools, and more recently has improved the availability of his tools by formatting them to be online and easily accessible. He has a 19-year-old son with a neurodevelopmental genetic syndrome.
About Autism Analytica
Autism Analytica is a wholly owned subsidiary of Quadrant Biosciences, a life sciences company dedicated to improving the lives of children and families by delivering innovative diagnostic, therapeutic, and virtual care solutions for global health priorities. With a focus on developing products that support effective evidence-based strategies for providers, Autism Analytica aims to improve the development and outcomes for those with neurodevelopmental conditions. Visit AutismAnalytica.com to learn more.
About Quadrant Biosciences
Quadrant Biosciences is a life sciences company dedicated to improving the lives of children and families by delivering innovative diagnostic, therapeutic, and virtual care solutions for global health priorities. Quadrant Biosciences is headquartered in Syracuse, NY, and located throughout the SUNY Upstate Medical University campus. Visit www.QuadrantBiosciences.com to learn more.
About SYNGAP1-related intellectual disability (SRID)
SYNGAP1-related intellectual disability (ICD-10 F78.A1) is a rare genetic disorder caused by variants on the SYNGAP1 gene that reduce SynGAP protein levels. SRF has identified almost over 1,300 patients to date, the number grows weekly. This protein acts as a regulator in the synapses (where neurons communicate with each other). When SynGAP 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 SynGAP patients.
Symptoms of SYNGAP1 include: intellectual disability; epilepsy; hypotonia (low muscle tone); gross and fine motor skill delays; autism spectrum disorder; gastro-intestinal disorders; sleep and behavior disorders and visual abnormalities.
About the SynGAP Research Fund (SRF)
The mission of the SynGAP Research Fund (SRF) 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, and families created sister organizations for SRF in the UK in 2020, in Europe (Netherlands) in 2022, and in Latin America (Colombia) in 2023.
Completely parent-led, SRF is the largest non-government funder of SynGAP research having committed over $4 million in grants to date. The founders cover operational costs, ensuring donations fund science & patient-related programs. SRF’s grant program awards one or two-year grants to investigators, physician residents, and clinicians who are 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 SRID.
SRF is a member of the COMBINEDbrain, Global Genes Foundation Alliance, the Everylife Foundation Community Congress, Personalized Medicine Coalition, Rare Epilepsy Network, and the Epilepsy Leadership Council.