Clinical Utility of Pediatric Whole Exome Sequencing
NCT03525431
Abnormalities, Multiple, Birth Defect
Fresno, California, United States
View Trial DetailsNCT Number: NCT06780501
This study consists of two parts:
Part One: De-identified Database
The goal of this part is to establish a research database containing de-identified data about People with Intellectual Disabilities (PwID) and epilepsy, collected from three NHS sites across England and Wales. Researchers will gather information from participants' medical records, including clinical details, epilepsy history, and medications, and will enter this data into a secure database where all identifying details are removed. This part of the study aims to determine whether it's possible to identify eligible participants, collect complete datasets for each participant, and identify any issues that may affect the quantity and quality of data. These findings will help inform a potential future study that could involve 20 or more sites.
Part Two: Research Register
The goal of this part is to create a research register of individuals with PwID and epilepsy. Participants will be approached and asked for their consent to collect their personal and clinical data, which will help identify those willing to take part in future ethically approved research projects. As in Part One, researchers will collect data from medical records. Participants who consent to be included in the register may be contacted by external researchers for future studies. The aim is to facilitate national collaboration by enabling data sharing between research projects, thereby improving the ability to answer more questions and enhance patient care. This part of the study will test whether it's possible to determine screening and recruitment rates at each site, develop and evaluate recruitment processes, and assess how researchers leading other approved studies can obtain permission to use the register. Additionally, it will evaluate whether it's possible to collect a complete dataset for each participant.
Interested in participating?
Request Info18 year and older
All sexes
Observational
Cornwall Partnership NHS Foundation Trust, Bodmin, United Kingdom
Healthy volunteers accepted: No
Only the study team can determine whether someone qualifies for participation.
The de-identified database:
Inclusion criteria
Exclusion criteria
The research register:
Inclusion criteria
Exclusion criteria
Time frame: End of study (May 2025)
De-identified database
Time frame: End of study (May 2025)
Research register
Time frame: End of study (May 2025)
Feasibility objective
Time frame: End of study (May 2025)
Feasibility objective
Time frame: End of study (May 2025)
Feasibility objective
Time frame: End of study (May 2025)
Feasibility objective
Time frame: End of study (May 2025)
Feasibility objective
Time frame: End of study (May 2025)
Feasibility objective
Time frame: End of study (May 2025)
Feasibility objective
Contact information is provided by the study sponsor or research team.
Emily Stanyard
CONTACT
Rohit Shankar
CONTACT
University of Plymouth
Other
Acronym: REFINE
OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.
View the official ClinicalTrials.gov record (opens in a new tab)This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.
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