Ignite Creation Date:
2024-05-11 @ 8:29 AM
Last Modification Date:
2024-10-26 @ 3:28 PM
Study NCT ID:
NCT06399952
Status:
RECRUITING
Last Update Posted:
2024-05-06
First Post:
2024-05-01
Brief Title:
Baker Gordon Syndrome Natural History Study
Sponsor:
University of Missouri-Columbia
Organization:
University of Missouri-Columbia
Study Overview
Official Title:
A Prospective Longitudinal and Observational Natural History Study for Children and Adults With Baker Gordon Syndrome - Genetic Autism Alliance
Status:
RECRUITING
Status Verified Date:
2024-09
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
BAGOS
Brief 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 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
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 diseases 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
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None
Secondary IDs
| Secondary ID | Type | Domain | Link |
|---|---|---|---|
| SYT1 | REGISTRY | Synaptotagmin 1-Associated Neurodevelopmental Disorder | None |