Frequently Asked Questions

If you have any questions, please email chelsey@ddx3x.org

The time to complete surveys will vary. We try to keep them as short and simple as possible. Each survey is expected to take between 10 to 20 minutes. Not all surveys need to be completed at the same time and progress can be saved.

We request that you visit the DFR every 3 months. This helps to ensure your contact and health information are current. You may also periodically receive emails requesting you to log in and answer some additional survey questions. Your ongoing participation helps ensure that DFR data remains responsive to current research needs.

You may receive (1) general care guidelines and educational resources specific to DDX3X Syndrome; (2) information about meetings/conferences specific to DDX3X Syndrome; (3) notifications of clinical studies and trials; and (4) notifications about future natural history studies and DDX3X Centers of Excellence.

There is no compensation for enrolling in the DFR, nor is there compensation for sharing your contact information to donate biospecimens.

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.

There are many questions that may be answered through the DFR. For example:

1. What is the global population of individuals with DDX3X Syndrome?
2. What is the natural history progression of DDX3X Syndrome?
3. What are potential new pathways for treatments and cures?

The more information you can contribute about your experience with DDX3X Syndrome, the better!

The DFR will continue to evolve as research advances. Additional surveys may be added and existing ones may change based on future need. Some will be shorter because only a few answers are needed; others will be more comprehensive, as needed, for research.

You may be asked to contribute information about demographics including contact information, diagnostics, family history, symptoms, disease progression, medical history, and current treatments in surveys. You may also be asked to link and/or upload medical records, such as genetic testing reports, clinical notes, imaging, and/or testing reports. 

The DFR wants to make sure that you clearly understand how and why your health data is being requested. We also want you to be fully informed about the risks and benefits of participation. Documented informed consent will allow your data to be used in future research. 

The DFR may share your data with researchers, doctors, or scientific laboratories who are researching DDX3X Syndrome. Interested parties are required to submit a written research proposal to The DDX3X Foundation. Before providing data to researchers, a Research Committee reviews the proposal to determine whether sharing data is in the best interest of the affected community.

Researchers from pharmaceutical companies and other commercial entities are invited to request data from the DFR. We hope our data helps research and clinical trial progress more quickly and more efficiently.  Interested parties are required to submit a written research proposal to The DDX3X Foundation. Before providing data to researchers, a Research Committee reviews the proposal to determine whether sharing data is in the best interest of the affected community.

Your participation in the DFR may include the following:

1. Creating an account and providing your consent
2. Completing research surveys
3. Participating in an interactive, web-based forum on the DFR website
4. Uploading or linking your electronic health records

Your participation is entirely optional and you may withdraw at any time.

The DFR would appreciate your suggestions. A key component of the DFR is its community-centric focus, and we strongly encourage participants to provide feedback. After registration, you can provide feedback and suggestions in the forum. Alternatively, please email your comments, questions, or concerns to info@ddx3x.org.

Your healthcare providers can participate by helping to spread the word about the DFR. Please feel free to ask your healthcare team to contact us at info@ddx3x.org to obtain recruitment information.

Your healthcare provider may also request data from the registry to assist in their IRB-approved research, and contribute to our ongoing data collection efforts.

You will receive updates via email about every 3 months. Updates from the DFR may include (1) requests to update your demographic, health, or genetic data; (2) requests or reminders about new surveys, to finish incomplete surveys, or to start a new survey; (3) information about how to link or upload your medical records and/or for specific medical record requests.

You may also receive periodic updates via emails pertaining to updates about the DFR, news about research findings, general care guidelines or educational resources, information about meetings/conferences, opportunities to participate in clinical studies or trials, and/or notifications about future natural history studies and possible travel grants to Centers of Excellence.

• 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.

Benefits to registering may include:

• Participating in the community forum.
• Participants may be able to compare their survey responses to the aggregated and unidentified survey responses provided by other individuals registered in the DFR.
• 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 of clinical studies and trials and receiving notifications about future natural history studies and potential travel grants to Centers of Excellence for clinical care.

We need your help to learn more about individuals with DDX3X Syndrome and provide researchers and therapeutic developers the data to pursue novel avenues toward a cure.

We believe you should register because:

1. As a caretaker of a person living with DDX3X Syndrome, you know the disorder better than anyone. When you take surveys about your child's daily experiences and symptoms and share their medical records, you can help create a key resource for research. Every piece of data expands the information that researchers can draw from.
2. Your voice matters in rare disease research! DDX3X Syndrome is rare so each person who chooses to participate can greatly expand the information available to researchers.
3. It’s secure and easy to participate. Registration is simple and completed entirely online. With your informed consent to participate in research, you can contribute health data through surveys and by uploading medical records. The DFR is built to protect your identity and privacy.
4. Your data can help bring us closer to a cure. The DFR data may help research and clinical trial progress more quickly and more efficiently. The data will be a powerful tool for clinical trials, treatments, and improved care.

Participation in the DFR is completely voluntary. It is your choice to participate. You may also withdraw and stop participating for any reason and at any time.

The following individuals are eligible to register in the DFR:

• An individual with DDX3X Syndrome
• A parent or legal guardian of an individual with DDX3X Syndrome, who has not attained the legal age of consent (under 18 years of age in most instances).
• A parent or legally authorized representative of an adult-aged affected individual who is not able to understand their participation or legally provide consent.
• A parent or legal guardian of an affected individual who is deceased.

The DDX3X Foundation is the sponsor of the DFR. The DDX3X Foundation is a nonprofit organization founded in 2015 to find a cure for DDX3X Syndrome. As part of our mission, the Foundation supports existing research, education, and treatment programs focused on DDX3X Syndrome. The Foundation has three primary functions: research, connecting families, and raising awareness.

The DFR has 4 main goals:

1. Identify individuals with DDX3X Syndrome

2. Gather past and future information on individuals with DDX3X Syndrome through voluntary registration, self-reported survey questionnaires, and patient-mediated medical record collection

3. Make data collected through the DFR available to researchers and clinicians who are studying DDX3X Syndrome to answer questions regarding the disease, including its symptoms, potential treatments, and other topics

4. Be the primary hub of clinical trial recruitment for individuals with DDX3X Syndrome

The DFR is a research study to investigate DDX3X Syndrome. To our knowledge, it is the only registry in the world that aims to gather data specifically on individuals affected by DDX3X Syndrome.

Yes, absolutely! We are always happy to receive additional reports.

The DFR is an effective, secure repository to store all of your medical reports in one place, allowing you to easily share those records with your healthcare providers any time and anywhere with an Internet connection.

In the United States, with limited exceptions, the HIPAA Privacy Rule (the Privacy Rule) provides individuals with a legal, enforceable right to see and receive copies upon request of the information in their medical and other health records maintained by their health care providers and health plans. For more information, see: https://www.hhs.gov/hipaa/for-professionals/privacy/guidance/access/index.html

There are 2 options to share your medical records. You can share your medical record in one or both ways. Sharing medical records is voluntary.

1. Upload PDFs. You can upload PDFs (or scans) of any medical records, such as clinical notes, imaging, genetic results, 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 CFR.

• 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, doctor notes.

The DFR will provide helpful instructions to upload and/or link your records.  The DFR will host instructional teleconference meetings to help upload and/or link records

• Your medical records include a wealth of data that is relevant to researchers, scientists, and pharmaceutical companies interested in DDX3X Syndrome. Medical records submitted to the DFR can help to better understand the complete natural history of DDX3X Syndrome and enable researchers to pursue novel avenues toward a cure.
• You can also use the DFR to securely store records, retrievable by you at any time from anywhere with an Internet connect.
• Uploading or linking your medical records is entirely voluntary and not required to register in the DFR.

We take your privacy very seriously and have policies and processes in place to safeguard your identity and protect the health information you share with us. Your personally identifying information and personal health information are only shared with your consent. Please review the informed consent document for more information.

The DFR takes your privacy very seriously and has policies and processes in place to safeguard your identity and protect your health data.  Any information shared with our research partners, including any identifying information, will be handled carefully per our informed consent. 

Information you share will be stored in the DFR for as long as the DFR exists and you authorize participation. If for any reason this registry is discontinued, you will be notified and you will have the opportunity to download information stored in your DFR profile.