CURRENT SYNGAP1 PATIENT STUDIES
For More Information on Each Study
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To expedite research into the rare epilepsies, 22 rare epilepsy foundations have joined forces with the Epilepsy Foundation, Research Triangle Institute, Columbia University and New York University to create the first ever Rare Epilepsy Network (REN). With seed funding from the Patient-Centered Outcomes Research Institute (PCORI), the REN is building a patient registry to collect information about rare epilepsy patients to better understand these conditions, improve treatments, and improve the lives and quality of care of patients living with them. A registry gathers and keeps information about people with a certain condition to support and encourage research into that condition. The information people provide is stored in a secure database; Information is given to researchers without names or identifying information of participants.
Since September 2010, the Simons VIP study has been recruiting families to participate in a research study aimed to better understand the medical, learning and behavioral features of individuals with genetic changes associated with features of autism, developmental delays, and other neurodevelopmental concerns (like seizures). We also aim to identify the needs of their families while providing support through education, access to experts, and by connecting with other families.
Phase 1: Complete
Phase 2: (ongoing)
Beginning in late 2013-early 2014, the Simons VIP study moved to Phase 2 of the study. As in Phase 1, this study will continue to offer genetic testing for eligible relatives, request medical and family history information, and collect developmental and cognitive assessments. While Phase 1 involved travel to study sites, in Phase 2, the collection of family, medical, development and behavior information will involve families completing online research surveys (which can be sent by mail if access to the internet is limited) and phone interviews from the comfort of their own homes.
The University of Cambridge, University College London and Cardiff University and supported by the Charity UNIQUE, who supports families with rare chromosomal disorders is beginning a new study.
The study is called IMAGINE ID (Intellectual Disability and Mental Health: Assessing the Genomic Impact on Neurodevelopment) and focuses on children diagnosed with a genetic condition which affects his/her learning.
The inclusion criteria for children to join the study are quite wide; we are looking to collect information from over 5,000 families with children aged 4-18 with intellectual disability due to a genetic cause. We hope to learn more about the long-term behaviour and mental health of children and young people from this large group of families. I have attached the invitation booklet for information.
Once a family has consented to taking part they will be asked to complete an online questionnaire known as a DAWBA (Development And Well-Being Assessment) which can be saved as you go along on a secure-internet based connection or alternatively a researcher can go through the questions with families in person or over the telephone if they do not have internet access. A particular benefit for families joining the study is once the DAWBA is completed, they will receive a personalised summary report detailing the child’s strengths and difficulties. This report has proven very useful for hundreds of families so far when applying to specialist services, education and treatments. IMAGINE ID has recruited hundreds of families so far from across the globe, families can also self-refer to the study which makes it even more accessible.