An observational study in Baker Gordon Syndrome, Rare Neurodevelopmental Conditions and Rare Neurogenetic Conditions, sponsored by University of Missouri-Columbia. Recruiting at 1 site in United States. Open to participants aged Up to 99 Years, including healthy volunteers. Per ClinicalTrials.gov, last updated 2026-01-09.
Sponsored by University of Missouri-Columbia · Observational
Rare genetic neurodevelopmental disorders, such as Syt-1 or Baker Gordon Syndrome (BAGOS) arise from mutations in genes essential for brain development and function, often disrupting neurotransmission and neuronal connectivity. These conditions present with a wide range of symptoms including developmental delays, seizures, motor and behavioral challenges, and vary widely in severity. These disorders are complex, and they remain poorly understood and lack effective treatments.
Natural history and clinical genetic studies are crucial for mapping how these disorders progress, improving diagnostic accuracy, and guiding therapy development. A major focus is identifying reliable biomarkers (genetic, imaging, and physiological) to track disease severity and support clinical trials. This study will securely collect and analyze data to better understand disease impact, develop patient-derived model systems, and build resources to support future treatments.
Rare genetic neurodevelopmental disorders are a diverse group of conditions caused by mutations in genes critical to brain development and function. These disorders often involve disruptions in key proteins responsible for processes like neurotransmitter release, synaptic signaling, and neuronal connectivity. For example, mutations in genes such as SYT1 (which encodes synaptotagmin-1, a calcium-sensing protein essential for regulated neurotransmission) can lead to severe conditions like SYT1-associated neurodevelopmental disorder, also known as Baker-Gordon Syndrome (BAGOS). Similar mutations in other genes may result in distinct but overlapping clinical syndromes.
These rare disorders typically present with a wide range of symptoms, including developmental delays, intellectual disability, seizures, abnormal motor function, behavioral changes, visual impairments, and in some cases, self-injurious behaviors. The severity and progression of symptoms can vary significantly between individuals, even among those with the same genetic diagnosis.
Due to their rarity and complexity, many of these conditions are poorly understood, and treatment options remain limited. Therefore, natural history studies and clinical genetic studies play a crucial role in advancing research. These studies systematically collect data over time to understand how symptoms evolve, how quickly the disease progresses, and what measurable changes occur in affected individuals.
A key component of studies in rare genetic diseases is the identification and validation of biomarker quantifiable indicators such as genetic signatures, brain imaging findings, or physiological measurements-that can serve as reliable endpoints in clinical trials. By tracking these markers, researchers can better evaluate the efficacy of potential therapies and design more targeted treatments.
In addition to guiding drug development, these studies help researchers recognize broader patterns across neurodevelopmental disorders. This can lead to the discovery of undiagnosed cases, improve diagnostic accuracy, and foster earlier intervention. Ultimately, building a comprehensive understanding of these rare genetic conditions is essential for improving quality of life for affected individuals and their families. The investigators will analyze this information to explore how rare neurodevelopmental disorders affect ongoing neurodevelopment and quality of life. This study aims to lay groundwork for future therapies and will improve our understanding of rare neurogenetic disorders.
1,848 studies on the registry are indexed under Epilepsy; 422 are open to participants now.
This study's planned enrollment of 100 is below the median of 112 across 540 observational studies indexed under Epilepsy.
Browse Epilepsy studies →University of Missouri-Columbia is the lead sponsor of 365 studies on the registry; 69 are open to participants now.
Of its 43 completed or terminated interventional studies of FDA-regulated products, 29 (67%) have results posted.
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Individuals with a diagnosed or suspected rare genetic neurodevelopmental disorder. Parents and caregivers over 18 years of age can participate in the study as healthy controls.
For those with a rare condition:
Inclusion Criteria:
Exclusion Criteria:
For control parents/caregivers of those with a rare condition:
Inclusion Criteria:
Exclusion Criteria:
For all individuals who participate in the skin :
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
A biopsy takes a small piece of tissue to examine. “Archival tissue” is a sample already taken, for example at diagnosis, and kept by the hospital.
Whether a stored sample will do depends on when it was taken, how much there is and what the study needs. Ask whether the study accepts your stored sample or needs a new biopsy.
Biopsy and archival tissue
A biopsy takes a small piece of tissue to examine. “Archival tissue” is a sample already taken, for example at diagnosis, and kept by the hospital.
Whether a stored sample will do depends on when it was taken, how much there is and what the study needs. Ask whether the study accepts your stored sample or needs a new biopsy.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
There is no intervention for this Natural History Study
Disease onset patterns, symptom evolution, and progression severity in rare neurodevelopmental disorders
Time frame: 3 years
Identify and validate biomarkers (genetic, imaging, and physiological) that correlate with disease severity and progression
Time frame: 3 years
Establish patient-derived and control cell lines (e.g., fibroblasts, induced pluripotent stem cells) to generate model systems for mechanistic studies and pre-clinical evaluation of potential therapies
Time frame: 3 years
Develop a deep phenotypic profile (cognitive, motor, behavioral, and neurological)
Functional Mobility Scale, Aberrant Behavior Checklist, Conners Global Index, Pediatric Sleep Questionnaire, Medical Questionnaires, Ex.
Time frame: 3 years
Distribution of clinical presentation features, including age at onset, core symptoms, severity scores, and disease progression measures, within and across genetic subtypes
Time frame: 3 years
Build a repository to support future interventional clinical trials
Time frame: 3 years
Plan to share: No
No publications or documents are linked to this record.
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