The Dup15q International Medical Registry was created to better understand dup15q syndrome (dup15q), as well as identify areas that may need further research. By participating you will play a pivotal role in helping our dup15q community, medical professionals and potentially researchers gain a better understanding of this complex syndrome. Participating in this registry is one very important thing that you can do to help build a better future for those affected by chromosome 15q11.2-13.1 duplication syndrome. Families with both core 15q11.2-13.1 duplications and those with 15q11.2 and 15q13.2-13.3 edge microduplications are invited to join the registry.
A medical registry is an online database that stores important information about the characteristics of those affected by dup15q. The questionnaire is easy to fill out and there are approximately 100 questions on various topics including, behavior, development, seizures, sleep, general health and other body systems. The affected individual will not have everything mentioned in this questionnaire, but it is important for us to gather as much information as possible. The first version of the survey is in English only, but we plan to develop the survey in other languages as well.
The information that you provide will be de-identified, meaning no one will have access to identifiable information besides the administrators of the registry. The registry will become a wonderful resource for you. You will be able to house all of the affected individual’s important medical information in one spot and refer back to it as necessary. For example, you will have a place that lists the affected individual’s milestones, dates of surgeries, medications used and medical reports in one location. There will be no more scrambling for medical information as it will all be organized in the registry for you. Participants will have the ability to look at how the affected individual compares to others in the group by a display of graphs. You will receive an email reminder annually asking for an update to the information.
The security of this information is important to us all. Please read through the terms and conditions of the registry. You will also need review and agree to the informed consent prior to gaining access to the registry.
There may come a time when a researcher is interested in conducting a specific project. For those that may qualify, you will receive an email from the administrator informing you of the study. You will be provided with the information to contact the researcher directly. Researchers will NOT have access to identifiable information from the registry and all proposed studies are approved through our Dup15q Alliance Scientific Advisory Board and Board of Directors. You can still participate in the registry if you do not wish to enroll in any future research projects.
Our goal is to better define the chromosome 15q11.2-13.1 duplication syndrome. For example, what percentage of affected individuals have seizures, sleep disorders or autism? What treatments work best for anxiety, seizures or ADHD? By defining the syndrome we can better educate our families and in turn the medical community about dup15q. We also hope to determine what areas require further research as identified by the information in the registry. These areas may be avenues for future research projects. The long range goal is to determine effective treatments to provide a better future for our loved one with dup15q.
Please join in with families all over the world to help take this critical step in understanding dup15q syndrome.