This is a text copy of the informed consent. All participants complete an official informed consent upon registration. 

The DDX3X Foundation Registry 

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Informed Consent to Participate

You may be eligible to take part in a research study. This form gives you important information such as the purpose of this research study, and the risks and possible benefits of participating. Your participation is voluntary. You should feel no pressure to participate.

The word “you” in this document refers to the individual who has DDX3X Syndrome. Parents or legal guardians must give permission for a child to participate. Once the individual reaches adulthood, the DFR will contact the individual, explain the purpose of the study, and obtain their consent to continue participation.

Legally authorized representatives may also give permission for adult-aged affected individuals who are not able to understand their participation or legally provide consent. Parents or legal guardians may also provide consent for an individual who is deceased.

Contact the DFR team at info@ddx3x.org with questions about this consent form and/or to further discusses your participation.

As a parent or guardian of an affected child, how much should I involve my child in the registration process?

If a parent, legal guardian, or legally authorized representative believes the affected individual can understand what it means to participate, we recommend they talk with them and obtain their agreement to participate in this study by discussing the information in this informed consent document.

What is the purpose of the DFR?

The purpose of the DFR is to collect past and future information on individuals with DDX3X Syndrome, and to share that data with researchers and doctors. This will help support future research studies, and could help find treatments and cures for DDX3X Syndrome. 

Who is sponsoring the DFR? 

The DDX3X Foundation is the sponsor of the DFR. The DDX3X Foundation is a non-profit organization with a mission to support research to find treatment and a cure for DDX3X Syndrome.

What personal information is collected in the DFR?

The DFR will collect personal data. Some of this data is sensitive according to the General Data Protection Regulation (GPDR). The GDPR is the European Union’s data privacy law that may apply to some participants who share data from European countries where GDPR applies. These personal and sensitive data include:

• Demographic data (Your name and the affected individual’s name, sex, status, date of birth, date of death if applicable, city and country of birth, mailing address, telephone numbers, and email addresses)
• Health and genetic data (May include: clinical and genetic test results and diagnoses, medical testing and results, medications, procedures, in-patient and outpatient visits, laboratory results, vital signs)

By signing this informed consent, you give the DFR permission to use your personal information as described in this document. 

What are your rights with respect to your personal information?

You may ask to access, correct, or delete your information by contacting info@ddx3x.org. Please note we may not be able to delete certain information about you if necessary to comply with the law, or if it has already been shared with others and/or de-identified. You may withdraw from the DFR any time for any reason.

How do you participate in the DFR?

1. Create a DFR account and provide your consent to participate

• Create a DFR account username and password.
• Complete this informed consent document. A copy will be stored in your registration profile, accessible to you at any time.
• Provide demographic, health, and genetic test result data. This personal information is stored on a secure database.
• Periodically log into your DFR profile to update changes to your demographic, heath, or genetic data. The DFR may contact you via email to remind you to update your information about every 3 months.

2. Complete surveys

• Survey questions will be about your experiences with DDX3X Syndrome.
• The DFR may contact you via email to complete new surveys, finish incomplete surveys, or start a survey about every 3 months.
• Some of the survey questions may need to be hosted outside of the DFR and responses will be available and added to the DFR. You will receive email notifications about any surveys that the DFR would like you to complete outside of the DFR.
• Data from survey responses will be stored in a secure database. 
• If you would prefer a DFR staff member walk you through the survey questions via phone or teleconferencing, please contact us at info@ddx3x.org.
• After you complete a survey, you may monitor your own health history in comparison to the aggregated and de-identified survey responses from all DFR members. 

3. Participate in forums

• The DFR website will include an interactive, web-based platform for all DFR participants to communicate.
• You have the option to post questions, respond to others, and interact with all members of the DFR community.
• Other participants on the DFR will see your forum username. You may use your identifiable name or an alias when interacting on the forum.
• Data obtained through these activities will be linked to your DFR profile, and will become part of your research data and may be looked at for research purposes as described in this document.

4. Upload or link your electronic health records

• Sharing data from your medical records is an optional part of participating in the DFR. Yet, collecting medical records from as many participants as possible is important so researchers and doctors have the most information about the natural history of DDX3X Syndrome.
• There are 2 options to share your medical records. You can share your medical record in one or both ways.

1. Upload PDFs. You can upload PDFs (or scans) of any medical records, such as clinical notes, imaging, genetic test results/diagnoses, and/or testing reports. Records are stored on a secure database, and will be available to you at any time by logging into your DFR profile.
2. Link your electronic health records via application programing interfaces (APIs). You may be able to connect your on-line portal from your care provider or other repository of electronic health information to the DFR.

• Types of information that will be examined in your medical records include but are not limited to patient identifiers, demographics, diagnoses, medications, procedures, outpatient and in-patient visits, laboratory results, vital signs, and doctor notes.
• The DFR will provide you with information on your rights as a patient to obtain your medical record from medical care providers. The DFR will provide instructions to upload and/or link your records. The DFR will host instructional teleconference meetings to help upload and/or link records.
• The DFR may contact you via email about every 3 months to remind you to link or upload your medical records. The DFR may also request uploads of specific types of medical records (for example, brain MRI imaging) that are needed for future analysis for researchers working under an IRB approved research plan. The purpose of the request, details about how your records will be used and/or shared, and information on how to submit those records will be provided.
• Sharing any or all of your medical records is voluntary and you may participate in the DFR even if you choose not to share your medical records.

How do I benefit from participating in the DFR? 

Your participation and data may benefit the DDX3X community. DDX3X Syndrome is rare so researchers will benefit from as much data from as many participants as possible. The data will be a powerful tool toward clinical trials, treatments, and improved care.

Additional benefits may include:

• Participating in the community forum.
• Monitoring your own health history in comparison to the aggregated and de-identified survey responses from all DFR members. 
• Receiving general care guidelines and educational resources specific to DDX3X Syndrome.
• Receiving information about meetings/conferences specific to DDX3X Syndrome.
• Storing and accessing your medical records in a secure database, retrievable by you at any time and from anywhere with an Internet connection.
• Receiving notifications about potential travel grants from The DDX3X Foundation to travel to Centers of Excellence for clinical care.
• Receiving notifications of clinical studies, trials, and natural history studies as they arise.

What are the risks or discomforts of the study?

• DFR participation and questionnaires – Information you choose to share on the DFR forums may allow another participant to identify you. Information shared by other participants in the forum may make you uncomfortable.  Additionally, it is possible that reviewing health related events and completing surveys may cause emotional distress, embarrassment, or discomfort. These risks are anticipated to be minimal. You may decide to not complete a survey at any time.
• Confidentiality of data, including personal information – There is a risk of loss of confidentiality. The security and privacy of your personal information and data is an important concern for us. Reasonable efforts will be made to protect you and your health information to the extent possible. The DDX3X Foundation and the company developing the DFR website and computer systems will take reasonable technical precautions to keep your data secure. Absolute confidentiality cannot be guaranteed.
• Unforeseeable/unknown risks – There may be risks that are unknown at this time. You will be notified of any significant new findings that become known that may affect your willingness to continue in the study.  

With whom is my information shared? 

Your de-identified data, meaning no personally identifying information and/or personal health information may be made available to:

1. You and all other registrants so that you may compare your aggregated survey responses to others in the database. It is your decision to use your identifiable name, or an alias, to participate in the DFR forum.
2. The public via The DDX3X Foundation’s social media accounts, websites, newsletters, and other media publications.
3. Researchers, doctors, or scientific laboratories who are researching DDX3X Syndrome.
4. Researchers who are collecting, testing, storing, and analyzing the biospecimen samples.
5. Pharmaceutical companies and other for-profit companies interested in investigating in tests or treatments for DDX3X Syndrome.
6. Patient Advocacy Organizations and other non-profit organizations who are pursuing treatments for DDX3X Syndrome.
7. Ordinal Data, Inc., the technology company who builds and maintains the infrastructure (e.g. website and database) behind the DFR.

Your identified data, meaning personally identifying information and/or personal health information may be made available to:

1. Representatives of The DDX3X Foundation
2. Researchers, doctors, or scientific laboratories working under an IRB-approved protocol who are researching DDX3X Syndrome
3. Researchers under an IRB-approved protocol who are collecting, testing, storing, and analyzing biospecimen samples
4. Organizations and/or institutions who may host surveys or questionnaires outside of the DFR
5. Pharmaceutical companies and other for-profit companies interested in investigating in tests or treatments for DDX3X Syndrome or for recruiting in future clinical trials.
6. Patient Advocacy Organizations and other non-profit organizations who are pursuing treatments for DDX3X Syndrome
7. Ordinal Data, Inc., the technology company who builds and maintains the infrastructure (e.g. website and database) behind the DFR.

These organizations may review or receive your identifiable information. They will need this information to conduct the research, to assure the quality of the data, or to analyze the data or samples. Identified data will be shared through secure channels.

To access de-identified or identified data, interested parties are required to submit a written research proposal to The DDX3X Foundation. Before providing the data to researchers, a Research Committee reviews the proposal. The Research Committee may consist of members of our Sciencific Advisory Board, Leadership Advisory Board, and/or members of the DDX3X community.

Decisions to share data or samples are based on many factors, such as that the research focuses on issues believed to be important by people with DDX3X Syndrome. Data will be shared via secure channels. If de-identified data is shared, your personal, identifying information will be replaced with a unique code number. The key that links your code number to your identifiable information will be stored on password protected computers or the secure DFR database.

Are there any costs to you to participate in this study?

There is no cost for you to participate in this study.

Is there any compensation to participate in this study?

There is no compensation for enrolling in the DFR.

The DFR may conduct raffles to provide small incentives to complete a particular survey. Up to every 3 months, the DFR may randomly select 1 to 2 participants who completed a specific survey to win a gift card with less than $100 in value.

The use of your data and/or samples may result in commercial profit, such as a product, material, or process. The use of your data and/or samples may be used in this and other research and shared with other organizations. You will not share in any commercial value or profit derived from the use of your data, biospecimens and/or information obtained from them, nor will you have special access to any products created because of your participation in this research.  

How is my privacy protected and personal information safeguarded?

The DFR is deeply committed to issues of privacy and identity. The DFR will take every available measure to protect personal information against loss, misuse, and unauthorized access, disclosure, and deletion. The information you provide to the DFR will be maintained in a secure database. While we will do our best to keep your personal information private, we cannot guarantee absolute confidentiality.

What is the duration of the study? How long will my data and personal information be retained?

The data and your personal information on the DFR will be collected from you and stored indefinitely. There is no set time for destroying the data collected from this study. Your permission to use and share the information and data from this study will continue indefinitely or until the research study ends and will not expire. Researchers may continue to analyze data for many years.

Do I have a choice to enter my data in the DFR?

Your participation is completely voluntary and choosing not to participate, or choosing to stop participating at any time, will involve no penalty or loss of benefits to which you are otherwise entitled. Your alternative is to not participate in the study registry.

May I withdraw my participation in the DFR?

You may withdraw from the DFR at any time, for any reason. To withdraw, simply click the “withdraw” button on your registry account page.  However, if you withdraw your consent, your data collected prior to withdrawing may remain part of the study database and may not be removed. Additionally, any information that was already released to external parties may be irretrievable. In addition, the DFR may not be able to delete certain information to comply with the law.