Understanding Your Participation

For the purpose of this Consent “the affected individual” will refer to the person diagnosed with Dup15q Syndrome. “You” will refer to the person entering the information. This may be the affected individual or a family member or guardian of the affected individual (the person legally responsible for the care and maintenance of the affected individual).
 
We are asking you to enter personal and other information into the Dup15q International Registry (which we will call The Registry). It is important that we explain what is involved and what will be done with the information you provide. This section contains answers to questions about the information we want, why we want the information, how it might benefit you, and possible risks of giving us this information. After you have reviewed “Understanding Participation” you will be directed to the Patient Consent form. You will be asked a series of questions. If you answer, “yes” to these questions regarding participation and use of the information you are providing you will have “consented.” Participation is optional. If you have questions that are not answered in this document, please contact the registry coordinator at: This e-mail address is being protected from spambots. You need JavaScript enabled to view it .

What is a registry?

A registry is a place to store detailed information about affected individuals with a specific disease or syndrome. In this case, the Dup15q International Registry is for affected individuals with Dup15q Syndrome. Establishing The Registry addresses two critical needs. First, scientists studying Dup15q need accurate, firsthand information to understand how Dup15q affects people. Second, scientists who are ready to start studies, such as those who test new treatments, will need to access The Registry to identify people that may be eligible to participate in studies. If an affected individual looks like a good match for a scientist’s research the scientist will contact the Dup15q Alliance. The Dup15q Alliance or the alliance’s agent (such as genetic counselor) will then contact the Dup15q family. Scientists will not contact families directly.

What are the benefits of collecting affected individual’s information in a registry?

Although there is no direct benefit to any individual participating in the registry, by collecting information on affected individuals in The Registry, scientists can:
  1. study why individuals have different symptoms.
  2. learn about how certain treatments work and don’t work.
  3. help medical professionals improve how they treat affected individuals with Dup15q.
  4. speed up research in Dup15q by collecting information that scientists can use.
  5. let affected individuals (or their family) know when they may be eligible for clinical research studies or clinical trials.

Whose data are you collecting in The Registry?

Individuals who have a diagnosis of Dup15q 11-13, including those who have passed away. The diagnosis must be confirmed by genetic testing.

Who can sign the consent form?

Affected Individuals over the age of 18 who understand the consent form (and thus do not have a legal custodian) are eligible to join The Registry on their own. Otherwise, the legal guardian, parent, or custodian of the patient must sign the consent for the affected individual to join. When the affected individual becomes 18 (and if they are able), consent will be obtained directly from the affected individual for continued participation.

What are the steps to filling out The Registry with affected individual’s information?

If you are the affected individual’s representative, you should finish reading, Understanding Your Participation, then, decide if you want to participate in The Registry. If so, you will need to sign the consent form. The next step is to provide basic information about you, to create a login username and password. Once you create this login, your name and email address will be sent to our administrator who will confirm that you are a member of the Dup15q Alliance.  Once you are approved, you will receive an email giving you access to the survey.   These questions will include your personal information, as well as information about your family member who has Dup15q. If more than one family member has Dup15q, you can create a single-family account, register the first individual with Dup15q, and then you will be able to add other family members with Dup15q.

Where will the data go?

All of the information you provide will be maintained in a safe (“secure”) computer, and any information that could identify you and your family members will not be shared without your approval.

Will I be expected to provide The Registry with additional information in the future?

Yes. The Registry is most valuable for scientific research when it is kept up-to-date. Therefore, you will be asked to update your profile and information once a year. We will send out notifications annually to remind you. We also ask you to fax or upload your genetic test results, and any other relevant reports or testing results. The Registry can also be updated whenever there is a change in condition (gain or loss of skill), change in medication, or new symptom.

Who will have access to the medical and other records on The Registry?

The goal of The Registry is to share detailed medical and other information with scientists and other researchers, while still protecting your privacy. This is done by hiding the name, address and other “identifying” information from the researchers. We call this “de-identified” or “de-coded” data (information from which all personal identification has been removed). That is what registered scientists, researchers, clinicians, and pharmaceutical companies will be allowed to see.
 
The de-identified data collected and compiled by The Registry belongs to the Dup15q Alliance International Registry community. The Dup15q Alliance is the guardian of the information contained within The Registry.
 
A subset of de-identified information collected from each profile may be shared with certain other databases. We will combine our data with a few other databases in order to develop global knowledge of Dup15q that may lead to new research studies, clinical trials, and clinical treatments.
 
The Registry has to follow rules to protect information about you. Federal and state laws also protect your privacy. This part of the consent form tells you what information about you may be collected in this study. It also tells you who might see or use your information.
 
Generally, only the Registry Coordinator will know that you have given information and will see your information. However, there are a few exceptions that are listed later in this section of the consent form.

What are the risks to registering?

There is minimal risk in taking part in The Registry. The Registry includes questions that can be sensitive and you may feel uncomfortable answering. You do not have to share any information you do not want to. Another unlikely risk is potential breaches in the computer system. In the event the there is a breach in the Registries’ computer system all participants will be notified.

I want to be involved in a clinical trial. If I register, is this guaranteed?

Although one of the main goals of The Registry is to make it easier for affected individuals to participate in research, there is no guarantee that that you or your family member will be eligible for a trial.
 
(Please note that even if the coordinators of a clinical trial believe that you might be eligible for the trial, based on the data about you stored in The Registry, it is still possible that later on it will turn out that you do not meet the trial inclusion criteria after all. Please also be aware that if we inform you about the existence of a trial, this does not imply that we endorse it. In order to participate in any trial, you will need to fill out a separate informed consent form.)

I don’t want to be involved in a clinical trial. Should I still register?

Absolutely. We hope that you will still be willing to register, even if you don’t want to take part in a trial. Your information may still be useful to researchers who are trying to learn more about patients with Dup15q.

Can I withdraw if I change my mind?

Your participation in this project is entirely voluntary. Should you change your mind and wish to withdraw your data from The Registry, you will be free to do so without having to provide any explanation. Simply contact The Registry Coordinator and all of your data will be removed from the database. Data accessed prior to your request for removal cannot be retrieved from researchers that have already accessed it.

If I have given data or information to doctors, researchers, clinics or hospitals in the past, is it OK to give my data to The Registry now?

Yes. We will be taking precautions to make sure information used is not redundant with data that may have previously been collected.

What are my options if I do not want to be in the Registry?

You do not have to join this Registry.  Participation is voluntary.  You do not need to participate in this Registry to remain a member of the Dup15q Alliance.

Will it cost me anything to be in this Registry?

No.

Who should I contact if I have any questions?

If there are questions in The Registry that you do not understand, first go to the Glossary tab found at the top for more information. If you have further questions, please contact The Registry Coordinator at This e-mail address is being protected from spambots. You need JavaScript enabled to view it or simply type your question into the “Ask an Expert” tab found at the top of the page.
 
If you have any questions about the registration process or about participation in The Registry, please contact The Registry Coordinator at This e-mail address is being protected from spambots. You need JavaScript enabled to view it .
 
To report problems that result from your participation in The Registry, you may contact the registry coordinator at: This e-mail address is being protected from spambots. You need JavaScript enabled to view it
To inquire about your rights as a participant in The Registry, you may also contact Chesapeake Research Review, Inc., the IRB for this study at: This e-mail address is being protected from spambots. You need JavaScript enabled to view it
 
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