GENERAL INFORMATION
What is the title or name of this registry?
The Barth Syndrome Registry and Repository, or the BRR for short.
Who do you call if you have questions about the BRR?
Call the Principal Investigator (or PI), Erik Lontok, PhD. at 914-303-6323 ext 3 or email at pi@barthsyndromeregistry.org. Erik Lontok is the Director of Research for the Barth Syndrome Foundation. You can also contact the Coordinator, Valerie "Shelley" Bowen at phone number 914-303-6323 ext. 1 or email at coordinator@barthsyndromeregistry.org. Shelley Bowen is the Director of Family Services and Advocacy of the Barth Syndrome Foundation.
Who is paying for the BRR?
The Barth Syndrome Foundation, or BSF for short, is the sponsor for the BRR and pays all of its costs. There is no cost to register and participate in the BRR.
What is a registry?
A registry is a place to store detailed information about affected individuals with a specific disease or syndrome. In this case, the BRR is for individuals who have Barth syndrome or who have a
mutation in the TAFAZZIN
gene. The BRR addresses two critical needs: 1) By collecting firsthand information about Barth syndrome it allows researchers and affected individuals to better understand the disease; 2) By engaging affected individuals with Barth syndrome, it serves as a way to recruit potential participants for clinical research. Interested researchers will be able to review de-identified information collected by the BRR, and through BSF, be able to announce relevant clinical studies or trials. It will be the choice of affected individuals whether or not to participate in clinical research.
What is a repository?
A repository is a place where biological samples are stored to be given out to investigators for research purposes.
How is the information collected by the BRR?
The BRR collects information by asking you (the Participant) a series of survey questions, with your answers entered via this website. Most questions will be in a multiple-choice format and this system has built-in security safeguards so that no one else can enter your information, and no one except the PI and Coordinator of the BRR can identify who you are. The purpose of this privacy protection is so that only the Participant (or the person entering the information on behalf of the Participant) as well as the PI and Coordinator of the BRR are able to know the identity of the Participant. Before any information in the BRR is shared with researchers, it will be de-identified.
What is de-identified information or de-identified data?
It is information that has all personal identifying elements or identifying tags removed from it.
Why does the Participant’s information need to be de-identified?
Information collected by the BRR is de-identified information to maintain the privacy of the Participant. No personal identifying information in the BRR will ever be divulged to researchers. As opportunities to participate in research occur, the BRR will notify Participants. However, it is always the Participant's choice to engage and contact a researcher.
What are the benefits to participating in the BRR?
There is no direct benefit for affected individuals participating in the BRR. However, by participating in the BRR and sharing your firsthand information and experiences with Barth syndrome, you will help researchers:
- Understand the many different ways Barth syndrome affects you, from your symptoms, medications, to number and types of medical providers involved in your care
- Address unmet clinical and research needs of individuals affected by Barth syndrome
- Recruit affected individuals that are eligible for their clinical study or trial
Whose information are you collecting in the BRR?
We are collecting information or data from individuals that have a confirmed diagnosis of Barth syndrome – either through a medial diagnosis, identified genetic mutation in the TAFAZZIN gene, or a confirmed diagnosis via the MLCL:CL ratio test.
Where will the information be stored?
Your information will be maintained in a safe and secure system. The company that secures and maintains the BRR is Invitae.
Will I be expected to provide the BRR with additional information in the future?
Yes. The BRR is most valuable for scientific research when it is kept up-to-date. Therefore, you will be asked to update your profile and information approximately once a year. The BRR will send out notifications annually to remind you. The BRR may also ask you to upload an electronic copy of your medical test results, and other relevant reports or testing results using the same website where you provide the answers to the multiple choice questions. The BRR can also be updated whenever there is a change in the Participant’s medical condition (gain or loss of skill), change in medication, or a new symptom appears. In addition, the BRR expects to add new questions about various aspects of Barth syndrome over time, so you also may be asked to complete new sections of the survey questionnaire at any time.
Who can register and complete the Informed Consent to join the BRR?
Affected individuals over the age of 18 who do not have a legal custodian AND who understand the Informed Consent, are eligible to participate in the BRR.
Affected individuals under the age of 18 must be enrolled in the registry by an adult. The adult must:
- Be 18 years of age or older
- Be the parent, legal guardian, or other legally authorized representative of the participant
- Be willing and able to provide consent for the child under 18
- Obtain assent (agreement) from the minor participant
Once the participant turns 18, we will contact the family and request that the Participant provide their own consent
How do I enroll in the BRR?
The registration process is simple and consists of two steps:
Creation of your account
An account can be created by an adult with a diagnosis of Barth syndrome, or the parent or legal guardian of a minor or dependent with the diagnosis of Barth syndrome. The registration process will ask a series of questions to confirm your participation and will ask for the name of the account holder. The account holder will create a username and password for the account, which are needed to log into the account in the future. The answers to the communication questions may be changed at any time in the future by logging into your account.
Completing your profile
After creating an account, you can complete the profile. First, enter the name and information for the person with the diagnosis (participant). Next, complete the survey about the participant's diagnosis, medical history, etc. Once completed, the account holder will be able to add other affected family members and complete a survey for each one. You can log out at any time and your answers will be saved. You can login later to complete your answers.
Can I withdraw if I change my mind?
Yes. Participation in the BRR is entirely voluntary. Should you change your mind and wish to withdraw your Participant information from the BRR, you will be free to do so without having to provide any explanation. Simply contact the PI or the Study Coordinator, and all of the Participant information will be removed from the BRR going forward. However, information accessed prior to the request for removal cannot be retrieved from researchers that have already accessed it.
Your participation in this study may be stopped at any time by the PI or the sponsor without your consent for any reason:
If I have given data or information to doctors, researchers, clinics or hospitals in the past, is it OK to give my data to the BRR now?
Yes. The BRR will be taking precautions to make sure information used is not redundant with data that may have previously been collected.
What are my options if I do not want to be in the BRR?
You do not have to join the BRR.
Will it cost me anything to be in the BRR?
No.
WHAT YOU CAN EXPECT AS A PARTICIPANT IN THE BRR
What will be done as part of my normal clinical care (even if I did not participate in the BRR)?
Your normal clinical care should continue as outlined by your physicians whether or not you are a Participant of the BRR.
What will be done only because you are a Participant of the BRR?
You will answer survey questions about yourself that researchers will want to know--about how you are living with Barth syndrome and about what medical treatments or medical conditions you have/had. You will enter your answers to these questions over a secure website. To maintain Participant privacy and to increase efficiency and flexibility, the BRR will retain very few (if any) written records, and the medical information the BRR collects will be accessible to researchers only through a computer interface.
You may be asked to sign a release of medical information from the doctors who treat you for Barth syndrome. This release of medical information would be used to gather or to complete the information that cannot be obtained using just the answers to the survey questions. This release of medical information may include doctors such as cardiologists, hematologists, and geneticists. You are not required to sign a release of medical information or provide information from these other doctors. However, if you are asked by the BRR and choose to do so, this will allow additional information provided by these other doctors to be entered into the BRR. Some examples of additional information that we may request from doctors would include results of heart tests (example, echocardiograms), blood tests (example, white blood
cell counts), or genetic information about your specific gene abnormality (example, type of tafazzin mutation). These examples of additional information are not as easily stored in the BRR’s computer system unlike your answers to the survey questions, but they may be important.
How long will I be a Participant of the BRR?
The information that you provide to the BRR will be kept indefinitely, or until the BRR is closed, or until you choose not to continue participation. You may contact the Study Coordinator or the PI at any time to add new information or to discontinue participation.
How many people are expected to take part in the BRR?
Approximately 100 to 200 people are expected participate in the BRR.
THE RISKS AND BENEFITS OF BEING A PARTICIPANT OF THE BRR
What are the risks?
There is minimal risk in being a Participant of the BRR. The BRR questionnaire includes questions that can be sensitive, and you may feel uncomfortable answering. You do not have to share any information you do not want to. Almost every question will have a “not sure” option. Other possible risks to you may include fatigue and concern about answering personal questions. You may take as much time as you need to complete the survey questionnaire, and you may skip any questions that you feel are too personal. Because there a many questions which may require checking your medical records, it will probably be necessary to access the website several times to complete the entire set of questions.
Another unlikely risk is a potential breach in the computer system that stores the information of the BRR. In the event there is a breach in the BRR’s computer system, all Participants or their representatives will be notified.The BRR and the company that stores and maintains the information in a computer will take appropriate steps to protect any information they collect about you. However there is a slight risk that information about you could be revealed inappropriately or accidentally. Depending on the nature of the information, such a release could upset or embarrass you, or possibly even affect your insurability or employability.
Who will have access to the information in the BRR?
The goal of the BRR is to share detailed medical information and other pertinent information with scientists, doctors, and other researchers, while still protecting your privacy. This is done by hiding the Participant's name, address and other "identifying" information from the researchers. We call this "de-identified" data (information from which all personal identification has been removed). That is what would be shared with scientists, researchers, and clinicians. Only the BRR's PI and Coordinator will have access to the names and other identifiable information of Participants.
A subset of de-identified information collected from each Participant may be shared with certain other national and international databases or published such as the TAFAZZIN Human Variants Database. The BRR will combine its data with other databases so that broader research studies can be conducted and ideally lead to new research studies, clinical trials, and potential treatments.
I want to be involved in a clinical trial. If I am a Participant in the BRR, is this guaranteed?
Although one of the main goals of the BRR is to make it easier for Barth syndrome individuals to participate in research through clinical trials, there is no guarantee that you or your family member will be eligible for a clinical trial.
(Please note that even if the coordinators of a clinical trial believe that a Participant might be eligible for the trial, based on the de-indentified data about the Participant stored in the BRR, it is still possible that later on it will turn out that the Participant does not meet the trial inclusion criteria after all. Please also be aware that if the BRR informs you about the existence of a trial, this does not imply that the BRR endorses it. In order to participate in any clinical trial, the Participant or the Participant’s representative will need to fill out a separate informed consent form.)
I do not want to be involved in a clinical trial. Should I still become a Participant of the BRR?
Absolutely. We hope that Participants will still be part of the BRR, even if the Participant does not want to take part in a clinical trial. Participant information will still be useful to researchers who are trying to learn more about individuals with Barth syndrome.
Commercial Issues
The BRR has no plans to share with the Participant or their family or heirs any profits that might arise from commercial uses or products that may be developed in research utilizing materials from the BRR. The BRR has no plans to give the Participant any money or other payment from any possible business ventures or revenues derived from the analysis, testing, and development of the Participant’s BRR information. However, you should know that agreeing to be a Participant in the BRR does not involve any waiver of your legal rights.
How could the researchers benefit from the BRR?
In general, presenting and publishing research results helps the career of a scientist. Therefore, any researchers who use the information in the BRR and publish their findings in medical journals or present their results at scientific meetings can benefit.
What other choices do you have if you do not want to be a Participant of the BRR?
Participation in the BRR is entirely voluntary. You are free to refuse to be a Paricipant in the BRR, and your refusal will not influence the current or the future health care you receive. The option to being a Participant in the BRR is doing nothing. If you do not want to take part in the BRR do not complete the Informed Consent Registration page or webpage.
