Overview
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.
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 our 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. We 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.
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.