Sleep Disorder Clinical Trial
— BAGOSOfficial title:
A Prospective, Longitudinal and Observational Natural History Study for Children and Adults With Baker Gordon Syndrome - Genetic Autism Alliance
NCT number | NCT06399952 |
Other study ID # | 2080722 |
Secondary ID | SYT1 |
Status | Recruiting |
Phase | |
First received | |
Last updated | |
Start date | April 30, 2024 |
Est. completion date | May 5, 2026 |
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.
Status | Recruiting |
Enrollment | 25 |
Est. completion date | May 5, 2026 |
Est. primary completion date | May 5, 2026 |
Accepts healthy volunteers | |
Gender | All |
Age group | 0 Years to 99 Years |
Eligibility | Inclusion Criteria: For the candidate participants affected by BAGOS: - Clinical and molecular diagnosis of BAGOS. - 0-99 years - Obtained consent forms and/or record of consultation by the caregivers. In this study, the primary caregivers for each participant diagnosed Baker Gordon Syndrome will be also considered participants. Caregivers 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. - Willingness to sign the consent form. - Ability to understand all the information regarding the study, as assessed by the research team. Exclusion Criteria: - The participant affected by BAGOS may not enter the study if there is any comorbidity (*) that could potentially affect the results of the study. This will be subject to the clinical judgement of the Chief Investigator (CI) and/or the Principal Investigator (PI). Participants of ongoing (interventional) clinical trials that assess the efficacy of potential treatments will be excluded as assessments need to be done on the basis that represent the natural progression of pathogenic mutation. (*) This includes any confirmed chronic or acute condition or disease affecting any system(s), which could interfere with the results of the study and/or the compliance with the study procedures. |
Country | Name | City | State |
---|---|---|---|
United States | University of Missouri Columbia | Columbia | Missouri |
Lead Sponsor | Collaborator |
---|---|
University of Missouri-Columbia |
United States,
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. — View Citation
Type | Measure | Description | Time frame | Safety issue |
---|---|---|---|---|
Other | Health economics | Interview with Caregivers | 24 months | |
Other | Clinical trial readiness | Demographic data collection and facilities preparation | 24 months | |
Other | Laboratory tests | Genomic and proteomic analysis of plasma samples to determine biomarkers of disease progression | 24 months | |
Other | Electroencephalogram activity recordings (EEG) | Electroencephalogram (EEG) to record brain activity of Baker Gordon Syndrome patients over a 2-hour period (e.g., sleep architecture, number and frequency of seizures, background epileptic activity, delta-rhythmicity) | 24 months | |
Other | Brain magnetic resonance imaging (MRI) | Brain magnetic imaging (MRI) to measure the brain grey and white matter volume. | 24 months | |
Primary | 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. | 24 months | |
Primary | 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. | 24 months | |
Primary | 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. | 24 months | |
Primary | Clinical Global Impressions Scale - Caregiver | Scales whereby the caregiver rates from 1 to 7 the overall improvement/deterioration of the participant affected to by Baker Gordon Syndrome. One is improved and 7 denotes deterioration. | 24 months | |
Primary | Pediatric Evaluation of Disability Inventory | Pediatric Evaluation of Disability Inventory assesses key functional capabilities and performance in children ages 6 months to 7 years. PEDI is also useful for older children whose functional abilities are lower than those of seven-year-olds without disabilities. | 24 months | |
Primary | 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. | 24 months | |
Secondary | Gross motor milestones | World Health Organization (WHO) Motor Milestones. Scale of 6 gross motor milestones. Lower scores denote worse motor function. | 24 months | |
Secondary | 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. | 24 months | |
Secondary | 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 | 24 months | |
Secondary | 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. | 24 months | |
Secondary | 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 you understand the behaviors and emotions of children and adolescents | 24 months | |
Secondary | 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. | 24 months | |
Secondary | 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. | 24 months | |
Secondary | Sleep and seizure activity | Sleep and seizure diaries with ready-made questionnaires | 24 months | |
Secondary | 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. | 24 months | |
Secondary | 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. | 24 months | |
Secondary | 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. | 24 months | |
Secondary | 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. | 24 months |
Status | Clinical Trial | Phase | |
---|---|---|---|
Recruiting |
NCT05820919 -
Enhancing Sleep Quality for Nursing Home Residents With Dementia - R33 Phase
|
N/A | |
Recruiting |
NCT04786314 -
The Effect of Hot and Cold Water Application on Pregnant Women With Restless Leg Syndrome
|
N/A | |
Recruiting |
NCT05775731 -
Markers of Inflammation and of the Pro-thrombotic State in Hospital Shift and Day Workers
|
||
Recruiting |
NCT03326765 -
Characterizing Sleep Disorders in Children and Adults With Tuberous Sclerosis Complex (TSC)
|
N/A | |
Completed |
NCT03673397 -
The Acute Effect of Aerobic Exercise on Sleep in Patients With Depression
|
N/A | |
Completed |
NCT03903263 -
Sleep Disturbances in Dermatology Patients
|
||
Not yet recruiting |
NCT06012513 -
Sleep Disorders and Quality of Life in Patients With Multiple Sclerosis
|
||
Not yet recruiting |
NCT05950932 -
Effects of Melissa Extract on Sleep Characteristics
|
Phase 4 | |
Completed |
NCT01463839 -
Sleep Disorder and Oral Habits in Children
|
N/A | |
Completed |
NCT00940589 -
Efficacy of Circadin® 2 mg in Patients With Mild to Moderate Alzheimer Disease Treated With AChE Inhibitor
|
Phase 2 | |
Recruiting |
NCT06093633 -
A Prospective Study to Evaluate the WP in Comparison to PSG in Patients Suspected of Sleep Disorders
|
||
Completed |
NCT06108115 -
Smartphone-Based Intervention for Sleep Disturbance in Individuals Recovering From Alcohol Use Disorder
|
N/A | |
Completed |
NCT05511818 -
Radicle Rest: A Study of Cannabinoids on Sleep and Health Outcomes
|
N/A | |
Active, not recruiting |
NCT04291014 -
Light Therapy for PD - Dose Selection
|
N/A | |
Completed |
NCT04560595 -
Remote Guided Caffeine Reduction
|
N/A | |
Completed |
NCT06008470 -
Investigation of Respiratory Muscle Strength, Exercise Capacity, Physical Activity and Sleep Quality Level in Individuals With Covid-19 Infection
|
||
Recruiting |
NCT06129942 -
Light Therapy in Parkinson's Disease
|
N/A | |
Recruiting |
NCT04318067 -
Melatonin in ADHD and Sleep Problems
|
Phase 4 | |
Completed |
NCT03857802 -
Efficiency of a Nursing Intervention in Sleep Hygiene
|
N/A | |
Completed |
NCT03532269 -
Validation of the Sleep Assessment Algorithm in the Medical Application Nightly
|
N/A |