Dup15q International Registry
The Registry Dup15q International 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 the single most important thing you can do to help build a better future for those affected by Chromosome 15q Dulpication Syndrome.
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 administartor 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 in 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 15q 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.
To participate you will need to:
- Go to www.dup15qregistry.org. Read the participation tab and if you agree, at no cost, you are ready to create a username and password. An email will be sent to the administrator who will approve your admission to the registry. You must be registered with Dup15q Alliance to gain admission.
- Once you have gained access, you can start the survey. The first section is Diagnosis. You will need to upload a copy of the affected individual’s genetic report. Instructions are provided regarding how to upload your report. You may have two methods to submit this report. You can send the report via email, fax or mail. If you participated in the Seizure Survey with Elwyn you can agree to have Elwyn release the report to the administrator and it will be uploaded to your record. You will then proceed to answer the questions section by section.
- It is important that you answer as accurately as possible. If you do not know the answer, skip it - do not guess - and go back to the question later. You can stop and save anytime during the process so it is not necessary to answer the entire survey in one sitting, although it is preferred.
- If you forget an answer a question or forget to upload a report you will get a automatic reminder from the administrator.
- There is a glossary for you to use if there are certain terms that you are not familiar with.
- Other medical reports that will need to be uploaded include a MRI, Sleep Study, EEG, EKG/ECG and Echocardiogram.
- If you did not complete the survey, logging back on at a later time, you will start where you left off. You will need to go through the entire survey in order to go back to the beginning of the questionnaire. It is also important to note that you will not have access to compare your answers to others until you have completed the survey.
- If at any point you have questions there is a help link or you can email the coordinator. We have a coordinator who is verifying all of the genetic reports as well as verifying the answers to your questionnaire for accuracy. Therefore, if there is some confusion you may get an email from the coordinator for clarification.
Creating this medical registry has been an extensive project for Dup15q Alliance. It would not be a reality without the fundraising and volunteer efforts of families and friends of Dup15q Alliance. Thank you for participating in the Dup15q Alliance International Registry. You are helping to build a brighter future for those affected by Chromosome 15q Duplication Syndrome.
Dup15q Alliance, P.O. Box 674, Fayetteville, NY 13066 USA
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