Frequently Asked Questions

Power of Health in Your Data

What is a Registry?

A patient registry is a collection, for one or more purposes, of standardized information about a group of patients who share a condition or experience.

According to a publication from the Agency for Healthcare Research and Quality Research, “Patient-powered registries and patient-powered research networks offer new directions for patient-centered outcomes research and contribute to translational science in important ways. Experts agree that these registries are transforming patient/caregiver support and advocacy groups into research organizations. They also provide patients and family members another way to become engaged in research beyond the role of advisor or informant to researcher-generated studies.”

Who can register in the Chromosome 8p registry?

A person diagnosed with a Chromosome 8p rearrangement or an unaffected sibling(s) or biological relative(s) such as a mother, father or grandparent. Registry information will be collected on each of these participants.

Why should I participate in the Chromosome 8p registry?

We will not be successful in finding treatments unless we know who the affected individuals are, what their diagnosis is, and how the disease is affecting the individual. In a rare disease with many unique differences, every person must be included.  By registering, you will receive information to help you:

  • Store all your medical reports in one place.
  • Share those records with your healthcare providers anytime and anywhere with an Internet connection.
  • Manage your medical care and allow you to view comparison of other participants in an aggregate de-identified manner.
  • Receive information about available therapies when they become available
  • Benefit from an online support community
  • Stay updated about conferences and events
  • Learn about relevant scientific publications
Data Collection Process

How much time will it take to participate?

The time to complete surveys will vary. We try to keep them as short and simple as possible. Not all surveys need to be completed at the same time and progress can be saved. You may return to complete them later at your convenience.

How often should I visit the registry to update my information?

We request that you visit the registry site 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 data remains responsive to current research needs. Also, the registry 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.

Can I withdraw participation?

If you do choose to participate, you can withdraw from the registry at any time and for any reason. Should you change your mind, you will be free to do so without having to provide any explanation. The Chromosome 8p Registry provides a “withdraw” button that allows you to delete your account. Alternatively, you can contact the Project 8p Foundation Registry Administration and your information will be removed from the database. Information that has already been published or shared with a researcher for a specific study prior to your request for removal cannot be retrieved or removed.

What kinds of information will I be asked to contribute?

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. These questions are intended to help you. Your ongoing participation helps ensure that data remains responsive to current clinical and research needs.

What are medical records?

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.

How do I share my medical records?

There are 3 options to share your medical records. In the registry, we will give instructions.  It is important to track the care you've received over time and across different doctors. Medical records contain your health status and medical history, ideally in an electronic format (called Electronic Health Records or EHR) to make it easier for your entire healthcare team to access the information. This results in more coordinated care, helping to improve your treatment and overall health.               

  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 profile
  2. Receive your electronic health records (EHR) via application programming interfaces (APIs). You may be able to connect your on-line patient portal from your care provider, hospital, or other repository of electronic health information directly to the 8p registry
  3. With your consent, the 8p registry can also receive medical records from your providers.  If you do not have direct access to your medical records, you may complete our Medical Release Form authorizing Project 8p Registry Administration to request medical records on your behalf. This authorization expires annually, so if we would like to request additional records beyond the release form's expiration date, we will contact you to sign a new form. Medical records we obtain from your healthcare providers will be electronically scanned and stored in our HIPPA-compliant cloud storage account. A selection of records may be uploaded to your 8p registry profile, offering you direct access to these records at anytime and anywhere with an internet connection.

Who do I contact with questions?

Please contact engagement@project8p.org for questions or concerns about the registry, participation, or the registration process or if you think you have been harmed by participating in the registry.

To inquire about your rights as a participant in the registry, you may also contact the Institutional Review Board (IRB) for this study at 855-818-2289 or researchquestions@wcgirb.com.

Your Involvement

Is this voluntary? And does this affect my participation in the Project 8p Foundation community?

You do not have to join this registry. You do not need to participate in this registry to remain a member of the Project 8p Foundation community. Your decision about whether to participate in this registry will not affect your healthcare, medical treatment, or insurance.

What are my alternatives?

This is not a treatment study; your alternative is to not participate. If you choose not to take part in this study, you may search for clinical trials without the assistance of the registry.

What happens if new information exists that may impact my participation in the registry?

If we learn new information that may impact your decision to be in the registry you will be notified.

I do not 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 clinical trial. Your information may be useful to researchers who are trying to learn more about patients with Chromosome 8p disorders.

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

This registry is not a clinical trial. Although one of the main goals of the registry is to make it easier for patients to participate in research, there is no guarantee that an individual patient will be eligible for a particular trial or contacted about a clinical trial.

Please also be aware that if the registry informs you about a trial, this does not imply that the registry endorses it. Please make sure to discuss any study you are considering carefully with the research staff before signing its informed consent form.

What is my cost?

There is no cost for you to participate.  If you agree for the participant to provide biological specimens, the Project 8p Foundation will cover the costs of sample collection that are not covered by your medical insurance. You will not be paid for being in this study

 

Can I interact with other participants in the Chromosome 8p registry?

The web-based platform will include an interactive forum for participants and/or legal guardians to communicate. You have the option to post about your questions, respond to others, and interact with all members of the 8p community. At registration, you may use your identifiable name or an alias when interacting on the forum.

Funding

Who is funding the registry?

Project 8p Foundation is the sponsor of the registry.

Privacy and Security

Who owns my data?

You own your data. The 8p Registry Administration are stewards or guardians of the data.

How will my identity and data be guarded?

We take your privacy very seriously and have policies and processes in place to safeguard your identity and protect your health data. Only a very limited number of authorized personnel will have access to your registry information, and this information is not stored in the same electronic repository as the survey questions you answer. If you opt into sharing your information, any identifying information that you authorize us to share will be handled carefully and in compliance with healthcare privacy laws.                                                         

What are my rights to obtain my medical records from my hospital or medical institution?

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 (link is external)

Researchers and Clinicians Access

Will the 8p registry share my data with pharmaceutical companies?

Researchers from pharmaceutical companies and other commercial entities are invited to request de-identified, aggregate data. These requests, like requests submitted by academic researchers, are carefully reviewed by 8p registry administration to determine whether sharing data is in the best interest of the affected community. Your personally identifying information will never be shared without your express consent.

How can my medical providers engage with Project 8p or this registry?

Your healthcare providers can participate by helping to spread the word about 8p. They can also contribute to clinician-reported data. 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.

How will my data be shared?

Your de-identified study information will also be shared with one or more government or private databases developed to make data accessible to researchers. Some examples of databases are the NIH databases, Global Rare Disease Patient Registry Data Repository (GRDR), the Rare Disease Cures Accelerator-Data and Analytics Platform (RDCA-DAP) and RARE-X. The data may be the combined data of many people or individual level data. This will allow more researchers to use the information to do research.