Rare DiseasesBAGOSNCT06399952
Baker Gordon Syndrome Natural History Study
An observational study of Rare Diseases and Autism or Autistic Traits, run by University of Missouri-Columbia at 1 site in United States.
Trial summary
The goal of this study is to conduct a prospective, longitudinal assessment of the natural clinical progression of children and adults with Synaptotagmin1-Associated Neurodevelopmental Disorder also known as Baker Gordon Syndrome (BAGOS). Read more about this study
- Who is it for?
- Ages 0 to 99 years
- Conditions the study is for
- Rare Diseases, Autism or Autistic Traits, Development Delay
- What is being tested?
- Brain Magnetic Resonance Imaging (MRI), Whole Genome Sequencing and Induced Pluripotential Stem Cells
- How many people
- 50 participants
- Where
- 1 siteUnited States
- Study dates
- 30 Apr 2024to 5 May 2027
- Phase
- Observational
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 0 to 99 years
- All sexes
- Child, Adult, Older adult
Study population: Study Population: * Genetically confirmed BAGOS * 0-99 years This study will comprehensively evaluate the natural clinical progression of the disease using scales and questionnaires for the assessment of motor function and global development, and by collecting sleep and seizure diaries. In addition, genetic and proteomic analysis, EEG recordings and brain MRI will be collected to identify biomarkers that will indicate disease progression or improvements following treatment.
Who may be able to join
- Genetically confirmed diagnosis of Baker Gordon syndrome.
- 0-99 years
- Ability to send medical records and diagnostic test results.
- Ability to complete tests and questionnaires.
Who cannot join
- The presence of another condition or co-morbidity unrelated to Baker Gordon syndrome, that affects neurodevelopment.
- In this study, the primary caregivers/LAR for each participant diagnosed Baker Gordon Syndrome will be also considered participants.
- Caregivers/LAR will have to meet the following inclusion criteria:
- >18 years.
- Legal caregiver of the patient diagnosed with a Baker Gordon Syndrome.
- Willingness to follow study procedures, as assessed by the research team.
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- Willingness to sign the consent form.
- Ability to understand all the information regarding the study, as assessed by the research team.
- Caregivers/LAR Exclusion Criteria:
- Less than 18 years old.
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
W. David Arnold, MD, 573-884-2924, wdavidarnold@health.missouri.edu
About this study
Official title: A Prospective, Longitudinal and Observational Natural History Study for Children and Adults With Baker Gordon Syndrome - Genetic Autism Alliance
The goal of this study is to conduct a prospective, longitudinal assessment of the natural clinical progression of children and adults with Synaptotagmin1-Associated Neurodevelopmental Disorder also known as Baker Gordon Syndrome (BAGOS). This will be performed by acquiring baseline measurements and developing effective outcome measures and diagnostic tools for the disorder, to prepare the healthcare system for future clinical trials.
Read the detailed description
The current natural history study is being conducted in anticipation of future treatments for patients with confirmed BAGOS. The study is an important avenue of investigation that will increase the understanding of the disorder and lead to important diagnostic and therapeutic advances. Its purpose is to identify demographic, genetic, environmental, and treatment modalities and concomitant medications that correlate with the disease's development and outcomes. This study will use standard scales and questionnaires for the assessment of global development, language, memory, and motor function, and by collecting sleep and seizure diaries. A small blood sample will be collected for whole genome sequencing and proteomic analysis. Brain imaging (MRI) and electroencephalography (EEG) recordings will be collected to identify disease biomarkers. The investigators will also be asking participants to provide a small skin sample for the development of patient specific stem cells which will be used to further understand the impact of Synaptotagmin1 mutations on neurodevelopment and as a potential screen for future therapies.
- Conditions
- Rare Diseases, Autism or Autistic Traits, Development Delay, SYT-SSX Fusion Protein Expression, Sleep Disorder, Epilepsy, Generalized
- Being tested
- Brain Magnetic Resonance Imaging (MRI), Whole Genome Sequencing, Induced Pluripotential Stem Cells
- Keywords
- Baker Gordon Syndrome, BAGOS, Synaptotagmin 1-Associated Neurodevelopmental Disorder
- Medical subject headings
- Rare Diseases, Autistic Disorder, Learning Disabilities, Sleep Wake Disorders, Epilepsy, Generalized, Psychomotor Disorders
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Brain Magnetic Resonance Imaging (MRI)Diagnostic test
Also called Electroencephalography (EEG)
Participants will undergo a 5-10 minute non-anesthesia brain MRI in order to evaluate for changes in brain structure. A 20 to 30 minutes 20 channel surface electroencephalography will be performed in the wake and sleep states.
Whole Genome SequencingGenetic
Also called Next Generation Sequencing
15 milliliters of blood will be collected at the initial visit. Blood samples will be centrifuged, and plasma stored in the University of Missouri Next Gen Precision Health building. Next generation whole genome sequencing and proteomics will be performed on plasma samples. Additional blood will be collected for the DNA biobank.
Induced Pluripotential Stem CellsOther
Also called iPSP
A 3 mm skin punch biopsy will be collected for developing induced pluripotential stem cells.
What is being measured
The primary outcome is the main question the study is designed to answer.
Collection of relevant medical data (retrospective and prospective)
Collection of demographic data, BAGOS-related medical history, past medical and surgical history, current medication, history of immunizations and family medical history.
Measured: 24 months
Neurological Assessment Scale
Hammersmith Infant Neurological Examination (HINE) (0-2 years ONLY). Maximum global score of 78. Higher scores indicate a higher degree of neurological performance.
Measured: 24 months
Clinical Global Impressions Scale - Practitioner
Scales whereby practitioner rates from 1 to 7 the overall improvement/deterioration of the participant affected by BAGOS. One is improved and 7 denotes deterioration.
Measured: 24 months
Pediatric Evaluation of Disability Inventory
Pediatric Evaluation of Disability Inventory assesses key functional capabilities and performance in children ages 6 months to 7 years.
Measured: 24 months
Pediatric Evaluation of Disability Inventory Computer Adaptive Test (PEDI-CAT)
The PEDI-CAT is a computer adaptive caregiver report which measures Daily Activities, Mobility, Social/Cognitive, and Responsibility. It's designed for use with children and youth with a variety of physical and/or behavioral conditions.
Measured: 24 months
Secondary outcomes (12)
Gross motor milestones
World Health Organization (WHO) Motor Milestones. Scale of 6 gross motor milestones. Lower scores denote worse motor function.
Measured: 24 months
Global development assessment scale
Bayley Scales of Infant and Toddler Development - 4 (BSID-4) for Developmental delays. Scale is divided into five domains, which are further divided into subdomains. The first step is to calculate the starting point by beginning with the items that are age appropriate. The starting point is validated if three consecutive items are achieved. If the participant affected by Baker Gordon Syndrome does not achieve three consecutive items in a row at the age-appropriate starting point, the evaluator must go backwards to the lower age-starting point until the participant affected by Baker Gordon Syndrome achieves three items in a row. The assessment stops once five items in a row are not achieved.
Measured: 24 months
Vineland Adaptive Behavior Scales Third Edition
Vineland Adaptive Behavior Scales Third Edition is the leading instrument for supporting the diagnosis of intellectual and developmental disabilities. Vineland-3 not only aids in diagnosis, but provides valuable information for developing educational and treatment plans
Measured: 24 months
Aberrant behavior assessment (ABC)
Aberrant Behavior Checklist-Community (ABC-C). This scale comprises 58 items and is divided into five subdomains. The ABC-C is designed on a four-point scale with the lowest score representing less-affected patients while the highest score represents most-affected patients.
Measured: 24 months
Behavior Assessment System for Children (BASC), 3rd Edition
Behavior Assessment System for Children (BASC), 3rd Edition. A comprehensive set of rating scales and forms, BASC-3 helps participants understand the behaviors and emotions of children and adolescents
Measured: 24 months
Conners 4th Edition
Conners 4th Edition (Conners 4™) provides a comprehensive assessment of symptoms and impairments associated with ADHD and common co-occurring problems and disorders in children and youth aged 6 to 18 years.
Measured: 24 months
Motor function assessment
Functional Mobility Scale (FMS). Scale which rates the walking ability in three different walking distances, and these distances will be rated on a 6-point scale. Higher scored denote less impairment.
Measured: 24 months
Pediatric Sleep Questionnaire (PSQ)
A 22-point questionnaire that assesses the sleep patterns and potential abnormalities in children and their affected quality of life.
Measured: 24 months
Test of Everyday Attention for Children 2nd Edition (TEA-Ch2)
Test of Everyday Attention for Children Second Edition (TEA-Ch2) uniquely measures separable aspects of attention.
Measured: 24 months
NEPSY 2nd edition
NEPSY®-II results provide information relating to typical childhood disorders, enabling accurate diagnosis and intervention planning for success in school and at home.
Measured: 24 months
The Infant/Toddler Sensory Profile
The Infant/Toddler Sensory Profile® was developed to evaluate sensory processing patterns in the very young. The results provide understanding of how sensory processing affects the child's daily functioning performance.
Measured: 24 months
Mullen Scales of Early Learning
Mullen Scales of Early Learning is a developmentally integrated system that assesses language, motor, and perceptual abilities, measures cognitive ability and motor development quickly and reliability.
Measured: 24 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted6 May 2024
- Study start30 Apr 2024
- Primary completion5 May 2027 (estimated)
- Study completion5 May 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Rare DiseasesStudies of the same condition, open and under way.
- 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
- Cohort
- Time perspective
- Prospective
- Enrolment
- 50 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
- NCT06399952
- Sponsor's protocol ID
- 2080722
- Other IDs
- SYT1
- Acronym
- BAGOS
- Status last verified
- Jun 2026
- First submitted
- 1 May 2024
- Last updated
- 3 Jun 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Publications
Riggs E, Shakkour Z, Anderson CL, Carney PR. SYT1-Associated Neurodevelopmental Disorder: A Narrative Review. Children (Basel). 2022 Sep 22;9(10):1439. doi: 10.3390/children9101439.
PubMed 36291375