Baker Gordon SyndromeNCT07329257
Investigating Phenotypic, Epigenetic, and NeuroGenetic Traits in Rare and Ultra-rare Neurodevelopmental Disorders (Project PENGUIN)
An observational study of Baker Gordon Syndrome and Rare Neurodevelopmental Conditions, run by University of Missouri-Columbia at 1 site in United States.
Trial summary
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. Read more about this study
- Who is it for?
- Ages Up to 99 yearsHealthy volunteers can take part
- Conditions the study is for
- Baker Gordon Syndrome, Rare Neurodevelopmental Conditions, Rare Neurogenetic Conditions
- How many people
- 100 participants
- Where
- 1 siteUnited States
- Study dates
- 4 Dec 2025to Dec 2028
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Up to 99 years
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: 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.
Who may be able to join
- Diagnosed or suspected neurogenetic disorder
- Individuals 0-99
- No history of a neurological disorder.
- >18 years.
- Legal caregiver of the patient diagnosed with a rare neurodevelopmental disorder.
Who cannot join
- Individuals unwilling or unable to complete visits with the study team.
- For control parents/caregivers of those with a rare condition:
- Individuals unwilling or unable to complete the visit with the study team.
- Individuals who have a history of neurological disorders.
- < 18 years old
- For all individuals who participate in the skin biopsy:
Show all 10Show fewer
- Individuals with disease that is known to be associated with poor wound healing.
- Individuals with a history of allergic reaction to lidocaine.
- Medical History of cellulitis, diabetes mellitus, poor extremity circulation, deep vein thrombosis, or a history of non-traumatic amputation.
- Currently taking anticoagulation or have taken with last 6 months
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site, 1 recruiting
- Recruiting
University of Missouri - Columbia
Columbia, Missouri, 65201
Sophia R Marchetti, 573-882-6720, sophiamarchetti@health.missouri.edu
W. David Arnold, (573) 884-2924, wdavidarnold@health.missouri.edu
About this study
Official title: Investigating Phenotypic, Epigenetic, and NeuroGenetic Traits in Rare and Ultra-rare Neurodevelopmental Disorders
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.
Read the detailed description
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.
- Conditions
- Baker Gordon Syndrome, Rare Neurodevelopmental Conditions, Rare Neurogenetic Conditions, Syt-1 Disorder, Epilepsy, Seizure
- Being tested
- No Intervention: Observational Cohort
- Keywords
- Baker Gordon Syndrome, BAGOS, Rare Conditions, Rare, Neurogenetic, Neurodevelopmental, Ultra-rare, Genetic mutation, Autism
- Medical subject headings
- Epilepsy, Seizures, Autistic Disorder, Developmental Disabilities
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
No Intervention: Observational CohortOther
There is no intervention for this Natural History Study
What is being measured
The primary outcome is the main question the study is designed to answer.
Disease onset patterns, symptom evolution, and progression severity in rare neurodevelopmental disorders
Measured: 3 years
Identify and validate biomarkers (genetic, imaging, and physiological) that correlate with disease severity and progression
Measured: 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
Measured: 3 years
Secondary outcomes (3)
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.
Measured: 3 years
Distribution of clinical presentation features, including age at onset, core symptoms, severity scores, and disease progression measures, within and across genetic subtypes
Measured: 3 years
Build a repository to support future interventional clinical trials
Measured: 3 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted9 Jan 2026
- Study start4 Dec 2025
- Primary completionDec 2028 (estimated)
- Study completionDec 2028 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Baker Gordon SyndromeStudies of the same condition, open and under way.
- More trials run by University of Missouri-ColumbiaThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Other
- Time perspective
- Prospective
- Enrolment
- 100 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University of Missouri-Columbia
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, William David Arnold, University of Missouri-Columbia
- Investigators
- W. David Arnold, MD, Principal investigator, University of Missouri-Columbia
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07329257
- Sponsor's protocol ID
- 2130290
- Other IDs
- SYT-1
- Status last verified
- Dec 2025
- First submitted
- 10 Dec 2025
- Last updated
- 9 Jan 2026
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 9 Jan 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Investigating Phenotypic, Epigenetic, and NeuroGenetic Traits in Rare and Ultra-rare Neurodevelopmental Disorders
- ClinicalTrials.gov ID
- NCT07329257
- Acronym / sponsor ID
- 2130290
- Conditions
- Baker Gordon Syndrome, Rare Neurodevelopmental Conditions, Rare Neurogenetic Conditions, Syt-1 Disorder, Epilepsy, Seizure
- Keywords
- Baker Gordon Syndrome, BAGOS, Rare Conditions, Rare, Neurogenetic, Neurodevelopmental, Ultra-rare, Genetic mutation
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 100 participants (estimated)
- Lead sponsor
- University of Missouri-ColumbiaUniversity, hospital or other
- Study start
- 4 Dec 2025 (actual)
- Primary completion
- Dec 2028 (estimated)
- Study completion
- Dec 2028 (estimated)
- First posted
- 9 Jan 2026 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Detailed description
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.
Study design
- Observational model
- Other
- Time perspective
- Prospective
Who may qualify
- Ages
- Up to 99 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- 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.
Key inclusion criteria (5 listed)
- Diagnosed or suspected neurogenetic disorder
- Individuals 0-99
- No history of a neurological disorder.
- >18 years.
- Legal caregiver of the patient diagnosed with a rare neurodevelopmental disorder.
Key exclusion criteria (10 listed)
- Individuals unwilling or unable to complete visits with the study team.
- Individuals unwilling or unable to complete the visit with the study team.
- Individuals who have a history of neurological disorders.
- < 18 years old
- Individuals with disease that is known to be associated with poor wound healing.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| No Intervention: Observational CohortThere is no intervention for this Natural History Study | Other | – |
Primary outcome
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
3 secondary outcomes
Develop a deep phenotypic profile (cognitive, motor, behavioral, and neurological)
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
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 9 Jan 2026.
- Individual participant dataSharing planned: No
Related trials for Baker Gordon Syndrome
RecruitingObservational study
Baker Gordon Syndrome Natural History Study
Rare Diseases, Autism or Autistic Traits
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
W. David Arnold, MD principal investigator
University of Missouri-Columbia
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Baker Gordon Syndrome and Rare Neurodevelopmental Conditions, run by University of Missouri-Columbia at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 5 inclusion and 10 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 9 Jan 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Sophia R Marchetti (573-882-6720, sophiamarchetti@health.missouri.edu), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Disease onset patterns, symptom evolution, and progression severity in rare neurodevelopmental disorders (time frame: 3 years). The study lists 3 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 9 Jan 2026.