PXE International BioBank and Clinical Data Registry
With samples and clinical data numbering in the thousands, the PXE International Biobank is by far the largest collection for pseudoxanthoma elasticum (PXE) in the world. An easy application process allows researchers from all over the world access to these resources. And hundreds of research projects have used them.
Learn more about the PXE International BioBank and Clinical Data Registry
Learn more about the Genetic Alliance Registry and BioBank
Blood and Tissue Bank
PXE International, Inc. holds the world´s largest collection of blood and tissue from people affected by PXE and their families. It is the only centralized repository for PXE samples in the world. We are using these samples for genetic research – examining the many mutations, the effect of the mutations on the cell and the future of possible interventions. PXE International established the PXE International Blood and Tissue Bank to make certain that your privacy and confidentiality are protected and your samples are available to any approved research project. Typically, most labs do not share this precious resource with other researchers; therefore, we have been able to create a novel and powerful tool for advancing PXE research.
Researchers interested in either donating PXE DNA, tissue and cell lines or in applying to use material from the bank should call 202.362.9599 or email Sharon Terry.
Consent Form for Participation in Clinical Information and Sample Donation
You are being asked to donate your clinical data, records and/or images (hereafter “clinical information”) and/or blood, cells from a scraping of the inside of the cheek (buccal cells), saliva and/or tissue sample (hereafter “sample”) for research into pseudoxanthoma elasticum (PXE). This consent form explains what will happen if you agree to do this. Please read it carefully and take as much time as you need. Ask questions about anything you do not understand now, or when you think of them later.
Donation of your samples and clinical information to the PXE International Registry and BioBank (PIRB) is strictly voluntary and, subject to certain limitations, you can change your mind about it at any time. If children are included, the word “you” will refer to both you and your child.
Why are you being asked to donate clinical information and/or samples?
PXE International is a member of the Genetic Alliance Registry and BioBank that provides storage facilities and support for organizations like PXE International to collect clinical information and biological samples to help further biomedical research.
PXE International is collecting clinical information and samples from people affected by PXE or from relatives of people with PXE. Your clinical information and samples (in some cases, including DNA extracted from a donation of blood) will be made available to researchers who are studying PXE to help understand the disease. Also, your clinical information and samples could be used for research on other diseases, if you give your permission by checking a box on the last page of this consent. Clinical information and samples will only be given to researchers who have research projects that have been approved by PXE International’s Medical Advisory Board. The PXE International Registry and BioBank is funded by PXE International, Inc.
It is up to you to decide if you want to give clinical information and/or a sample to the PIRB. No matter what you decide to do, it will not affect your healthcare or the services PXE International provides to you. You can change your mind and withdraw your consent and participation at any time, although any clinical information or samples that have been incorporated into studies cannot be deleted, of course. Please read the rest of this document to help you make your informed decision.
What will happen if you decide to donate clinical information and/or a sample?
If you agree to donate clinical information and/or a sample, the following will happen:
1.You will sign this consent form and send the Official Copy to PXE International.
2.When PXE International receives your consent form, a unique identifying number (ID number) will be created for you. This will be done in a password-protected database on a secure server.
3.PXE International will email you a link to a survey form that will ask you about your clinical information. This survey is part of a state of the art informatics system on a server that complies with all the US and international privacy and security laws, including HIPAA.
4.You will fill out the clinical information form online and submit it to PXE International. The information on the clinical information form will be entered into a clinical information system stored on secure servers at the Genetic Alliance BioBank laboratory.
5.If you are also donating either blood or tissue samples, PXE International will request a kit for you to be sent from the PIRB.
a.You will receive a kit containing vials and instructions for getting a sample of blood, buccal cells, saliva or the specific tissue/organ sample you have volunteered to donate. If you plan to have surgery and wish to donate a tissue sample, please contact Sharon Terry to make arrangements in advance.
b.The vials in the kit will be labeled with your unique identifier and your first name. There will also be a pre-addressed and paid mailing envelope to send the samples to the PIRB. If you have any questions about the instructions, there will be a name and phone number on the instructions to call.
c.If you are donating a blood sample, you, or the place where you have the blood drawn, will ship the sample to the PIRB. Your samples will be labeled only with your ID number and a corresponding number created by the PIRB.
6.Researchers who would like to study PXE and other diseases will submit research protocols to PXE International. If the PXE International Medical Advisory Board approves the study, a small part of your sample and/or information from your de-identified clinical information form may be sent to the researcher. We will give them your ID number only, they will not know who you are, and will not be able to contact you. The samples or the clinical information form will not contain any identifying information about you. If researchers want more clinical information, we will contact you, but we will never give researchers your name or any other identifying information.
7.You will not be notified if your sample or clinical information is used. Except in general terms through PXE International written and electronic communications, you will not be notified about any individual or specific research results using your sample or clinical information.
8.You will be notified if the research discovers something that is important to you for your medical wellbeing, that is, something that is significant for your personal health.
9.If you change your mind at any time, you can tell us and we will destroy any of your sample that is left and delete your clinical information that is in the PIRB.
What are the risks or discomforts for donating a sample, specifically a blood, buccal cell or saliva sample?
The risks of drawing blood include brief pain, slight bruising, and rarely, infection at the site of the needle insertion. The laboratory or clinic where the blood is drawn will take every precaution to prevent infection. Some people feel dizzy when they have blood drawn, but this goes away when the person lies down.
The risks of getting a scraping of cheek cells include brief pressure or slight discomfort. The cheeks should not be scraped hard enough to draw blood.
The risks of donating a sample of saliva are negligible.
If you are physically hurt because of donating a sample, we will help you to get medical care through your usual doctor. You or your health insurer will need to pay for any such care that you receive.
How will a tissue sample be obtained?
Tissue that is removed as a result of your surgical procedure will be sent to the PIRB. No additional tissue will be taken during the surgery and only tissue that is not needed for your diagnosis will be sent.
How will we keep your information private?
Once we have your signed consent form, we will assign you a unique ID number. Your clinical information and sample(s) will contain that number. We will remove your name and any other information that points to or identifies you. We will keep a database that links your unique ID number to your name and contact information in a secure database. Only PIRB staff who have been trained and have received a certificate in managing human research studies from a regulatory body that oversees human research protections (for example, the US Office of Human Subjects Protection) will be allowed to view the data. Your name or other facts that might identify you will not appear if we present any study findings or publish results using your sample or clinical information. Although all of your identifying information will be stripped from your clinical information, it is still possible that if your family or clinical information is unique, it will allow identification of you, even if the information is published anonymously.
What are the benefits to you?
There will be no direct benefit to you from allowing your sample and/or clinical information to be included in the PIRB. You will not receive any information from any research that uses your sample and/or clinical information. However, we hope information gained from researchers who obtain clinical information and/or samples from the PIRB will help in the treatment of individuals affected by PXE. From time to time, PXE International will provide information in the newsletter, website, via electronic media and/or biennial membership meetings about what research studies have been supported through the approved distribution of samples and/or clinical information.
Are there any financial considerations?
There is no payment to you for donating a sample and/or clinical information. We will not charge you for donating clinical information and/or a sample. The laboratory or clinic drawing the blood may request payment; however, if they know that the sample is for research, they typically waive that fee. If this is a hardship, you should contact PXE International for alternative ways to collect the samples.
Once you have donated your sample and/or clinical information, PXE International will be the custodian of that sample and/or clinical information. Researchers who use the sample and/or clinical information may make a discovery that has commercial value. You will not be entitled to any compensation due to discoveries that are made and commercialized using your samples and/or clinical information.
What are the alternatives?
You may choose not to donate. Your decision to participate or not will have no effect on your healthcare or the services that PXE International offers to you, either now or in the future.
How long will your sample and clinical information be stored?
Your sample and clinical information will be stored for an indefinite period of time subject to your right to revoke your consent.
Will your sample or clinical information be used for anything else?
The purpose of the PXE International Registry and BioBank is to promote research about PXE. However, researchers who are studying other diseases may find PXE samples and/or clinical information valuable to their area of research as well that may in the long run benefit patients with PXE or other patient populations. You have the option to give permission to use your sample and/or clinical information just for research on PXE or for other medical research as well.
Can you change your mind and withdraw your sample and/or clinical information?
You can change your mind about donating a sample and/or your clinical information at any time. Unless researchers have combined your sample with others in such a way that it cannot be separated or extracted, upon receipt of your revocation request, your sample that is in storage will be destroyed and your clinical information will be permanently deleted. However, any sample and/or clinical information that has already been analyzed cannot be removed from a study.
Where can you go for answers to any questions you may have now or in the future?
You can contact the administrator for the PXE International Registry and BioBank at email@example.com if you have other questions now or in the future.
Have you donated samples for research in the past?
It is important to know if there is any possibility that another sample of yours already exists in another biorespository. If you have donated a sample in the past to a researcher, please let PXE International know – email firstname.lastname@example.org.