The Chromosome 8p Biorepository collects and stores biospecimen samples. Patient (and family member) samples may be used to confirm a genetic diagnosis and can also be used to conduct whole genome sequencing or RNA sequencing. If any sequencing is conducted on you or your family member, you may provide consent for a healthcare provider to interpret these results for you. A participant can partake in the Chromosome 8p Registry without providing biological samples.
Project 8p Foundation is the Administrator for the Chromosome 8p Registry.
The Registry & Biorepository is an IRB-approved Study. The Principal Investigator is Bina Shah, CEO and founder of Project 8p Foundation.
Caregivers, we ask that you enroll yourself as a caregiver and complete the consent form on your behalf first.
The Caregiver Consent includes the option to participate in the Biorepository. Once in the registry, you will add your hero.
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.
A biorepository is a centralized location that processes and stores select biological fluids, tissues or cells from humans. The 8p biorepository accepts blood, tissue and cerebrospinal fluid samples. These samples are incredibly helpful for researchers who are trying to identify treatments for patients with 8p. All samples kept in the biorepository are de-identified and owned by the participants themselves. Staff from the Project 8p Foundation decide which interested researchers get access to these samples.
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 and each are eligible for participation in the optional biorepository.
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 participating, you will:
No! You do not have to join this registry or participate in the Biorepository and this will not affect your involvement in the Project 8p Foundation community. Your decision about whether to participate in this registry or biorepository will not affect your healthcare, medical treatment, or insura
You own your data and biological samples. The 8p Registry Administration are stewards or guardians of the data.
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.
If we learn new information that may impact your decision to be in the registry you will be notified.
A sample sent to our biobank is typically divided and shared among several different labs to support multiple research studies. During that process, it is possible that our researchers may discover something that might be relevant to you, but tests done for research purposes are not done to the same standards as those used to help make clinical decisions. Because of these limitations, the results of research tests should not be used to guide decisions about care. However, if we find something that could, if confirmed, have an impact on your diagnosis or treatment, we will share that information with your treating doctor so that they can decide whether it is significant enough to confirm with further clinical testing.
The time to complete surveys will vary. We try to keep them as short 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. Participation in the biorepository requires additional time to donate your sample.
We request that you visit the registry 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.
Project 8p Foundation is the sponsor of the registry.
There is no cost for you to participate in the registry or biorepository. 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 with advanced approval from the Registry Administration. You will not be paid for being in this study.
If you do choose to participate, you can withdraw from the registry or biorepository 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. To do so, you must contact: engagement@project8p.org and MatrixSupport@AcrossMatrix.com. 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.
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.
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 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. Your de-identified biological samples may be provided to an interested researcher who submits a request for samples and gets approval by the Registry Administration. Your identifiable information may be shared with clinicians or doctors.
Researchers from pharmaceutical companies and other commercial entities are invited to request de-identified, aggregate data and biological samples. 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.
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.
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 and biorepository information, and this information is not stored in the same electronic repository as the survey questions you answer.
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.
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. 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.
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
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
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.
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.
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 Northstar Review Board (IRB) for this study at info@northstarreviewboard.org.
Rare-X is a platform to collect, connect and share data. Rare-X was created to accelerate rare disease research, treatments, and cures by removing barriers for data collection and sharing.
This component of the My Hero Initiative involves medical surveys that ask questions on all systems of the body. The detailed “Head to Toe” surveys provide valuable information.
Project 8p Foundation is a registered 501(c)(3) charitable organization with EIN 83-2545342. All contributions are deemed tax-deductible
