Barth Syndrome Patient-Inputted Registry and Repository

Purpose

A patient registry collects and stores participant medical information, family history and other related information for use in medical research. The BRR is a tool for researchers to help understand this disease and to help find effective medical treatments. The BRR functions to gather, store, and disseminate relevant medical information and biological samples from Barth syndrome individuals. We expect that the BRR will exist for as long as it is needed to aid research and researchers in their quest of finding treatments for Barth syndrome or similar human diseases. The BRR would like to include as many Barth syndrome individuals as possible, which currently numbers about 350 people world-wide. In addition to what is written here, you can find more information about the Barth Syndrome Foundation, the study sponsor’s website here:
https://barthsyndrome.org

Participant information in this registry will be used for research and clinical trials to better understand Barth syndrome and to develop new treatments. The BRR will be your resource to better understand how the whole community of Barth syndrome patients is affected by the condition. You will see how others respond to the survey questions you have completed. The information you input into the BRR can be compiled into reports and shared with researchers who are dedicated to improving treatments and patient outcomes. When you indicate in your contact preferences that you would like to learn more about clinical trials, you will be notified when you meet eligibility criteria for a study. Your participation will support key collaborations between the patient community, healthcare professionals, academics, advocacy organizations and industry (like biotechnology and drug companies) to bring about change. The BRR is sponsored by the Barth Syndrome Foundation, and there is no cost to you to participate.

The last question of the Informed Consent Registration page or webpage will ask if the Participant would like to donate a biological sample to the BRR; however, you do not have to submit a biological sample to be a Participant in the BRR. There is a separate Informed Consent form for those Participants who wish to donate a biological sample, and this can only take place if you are a Participant of the BRR first. Please remember that you do not have to donate a biological sample to be a Participant of the BRR.

If you join BRR, you will be asked to provide information about your Barth syndrome-related condition. If needed, you may seek the assistance of your family members, medical team or caregivers to help better understand survey questions and provide correct answers.

The BRR collects information by asking you a series of survey questions on a specific internet accessible website, and you will enter your answers on the website screen. Most questions will be in a multiple-choice format to facilitate research and aid researchers. This internet-based system will have security safeguards so that no one else can enter your information, and no one except the research staff of the BSF/BRR can identify who you are.

It may be necessary for a member of the BSF/BRR research staff to contact you (1) as a reminder to complete unfinished survey(s) or (2) to clarify information that you have provided to the registry. The BSF/BRR research staff will use the contact preference details you provide in the registration process. If the BSF/BRR research staff is unable to reach you, data elements that cannot be validated may not be included in registry research reports. Whenever there is a change in your contact information, you may contact the BSF/BRR staff to make those changes in the registry (email: melissa.huang@barthsyndrome.org"; phone number: 914-303-6323x6). You can make updates to your contact information by navigating to the “Account Information: Update” section of the registry home page.

One aim of the BRR is to compile detailed, de-identified medical and other information while protecting your privacy. One way the BRR protects your privacy is to remove your name, address and other “identifying” information from your medical information before providing it to researchers. This information is “de-identified” because it has had all personal identifiers removed including your name, address, or other information that identifies you or your family. To protect your identity, you will be assigned a numeric code and a Global Unique Identifier (GUID). The GUID is a unique code made up of letters and numbers that allows researchers to share data from other studies in which you have participated without letting others know who you are. To generate the GUID, We will ask you for your full date of birth (day, month, year), first name at birth, last name at birth, middle name at birth (if applicable), city/municipality of birth, country of birth, and biological sex at birth. This personally identifiable information (PII) will be entered into the National Institute of Health Centralized GUID generator software program. Once the GUID is produced, there is no way to get back to your PII. The software will not keep your PII but will have enough information to determine if you already have a GUID assigned in the system. If you participate in another project and provide the same PII, you will be assigned the same GUID. Your GUID will be part of our research records and only BSF/BRR research staff will have access to the information that could identify you and would only use this information as outlined in this form with your consent. Although we will take every reasonable measure to protect your privacy and confidentiality, because Barth syndrome is rare, there is a small risk that you may be identifiable from the information in the BRR.

BSF/BRR will not share your identifiable information unless you give your permission to share it. Approved third-party researchers and clinicians will be allowed to see only de-identified reports created by BSF/BRR research staff. BSF-approved researchers and clinicians may use de-identified information to conduct research, including research unrelated to Barth syndrome. Researchers may submit study details to the study sponsor (BSF) for an internal report to identify participants who may be potential study candidates. If a participant looks like a good match for the third-party researcher’s study, BSF/BRR research staff may contact you if you have consented to be contacted for this reason. The researcher will not contact you directly. BSF/BFF research staff will provide you with basic information about the study and a way to contact the researcher if you wish to do so.

Your de-identified information combined with other participant data may also be shared with other databases. This will allow more researchers to use the de-identified information to do rare disease research.

Participant information will be stored for a reasonable period of time, or until a participant requests that his/her data be removed by withdrawing from the BRR. You may revoke your consent to participate in the BRR at any time. Participants may withdraw consent at any time by selecting to revoke consent on the participant enrollment page., The Participant may also request that their personal information and data be deleted from the BRR. Deidentified information that has already been shared (such as with other databases, in a publication, or sent to a researcher for a specific study) prior to your request for removal cannot be retrieved or removed.

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.

You have the option to receive your research results if you wish. If you opt-in, limited information about the research results of the surveys (only questionnaires filled out by the you or your minor children, NOT others’ results) and de-identified overall study results (de-identified summaries) will be returned when available. If research results are published, your name and other personal information will not be given.

Your participation is voluntary

Providing information to the BRR is voluntary. You do not have to contribute information. If you do participate, you can withdraw from the BRR at any time and for any reason.

Right of withdrawal

Should you change your mind and wish to withdraw your information from the BRR in which you are registered, you will be free to do so without having to provide any explanation. Participants may withdraw consent at any time by Participants may withdraw consent at any time by informing the study PI. The Participant may also request that their personal information and data be deleted from the BRR. Deidentified information that has already been shared (such as with other databases, in a publication, or sent to a researcher for a specific study) prior to your request for removal cannot be retrieved or removed. Your participation in this study may be stopped at any time by the PI or the sponsor without your consent for any reason.

Anticipated benefit

Participation in the BRR is not likely to benefit you directly, medically or financially. However, participation in the BRR may help members of your family and others with Barth syndrome or other diseases by increasing the understanding of your disease/condition. Having an available registry of information about Barth syndrome may help speed up research. Such research could eventually help researchers to learn whether or how treatments work, or help medical professionals improve how they treat the disease. Participants may receive information about opportunities to participate in research and clinical trials, as well as information about medical advances and other news from the BRR.

Risk of participating

There is minimal risk in taking part in the BRR. The BRR may ask you to answer questions that can be sensitive and you may feel uncomfortable answering. You do not have to share any information that you do not want to share. Another possible but unlikely risk is a potential breach in the registry system itself. In the event that there is a breach in the registry’s system, you will be notified.

There is a risk that your information could be misused. The chance of this happening is very small. We have protections in place to lower this risk. There can also be a risk in uncovering genetic information. New health information about inherited traits that might affect you or your blood relatives could be found during a research study. Very rarely, employers, health insurance companies, and others could misuse health or genetic information. There is a federal law called the Genetic Information Nondiscrimination Act (GINA) that, in general, makes it illegal for health insurance companies, group health plans, and most employers, except those with fewer than 15 employees, to discriminate against you based on your genetic information. However, it does not protect you against discrimination by companies that sell life insurance, disability insurance, or long-term care insurance. There may be other risks we are not aware of at this time.

Representatives from the National Institutes of Health (NIH), Food and Drug Administration (FDA) and other research institutions may inspect study records during auditing procedures to be sure that the BRR is being protected according to regulations and policies. However, these individuals are required to keep all donor information confidential.

Consent from International Users of the BRR

For persons living outside the United States who choose to share information about themselves, the same protections for privacy and confidentiality are offered as in the United States. By signing this consent, you acknowledge that you are disclosing information that would otherwise be private. Privacy laws in your country may have different protections than those provided in the United States.

Eligibility

Information will be collected on participants who are diagnosed with or suspected to have Barth syndrome. Participants (1) who are the age at which someone is considered a legal adult (2) who understand the consent form, and (3) can legally provide their own consent (and thus do not have a legal guardian) are eligible to join the BRR on their own.

Other common questions

We have used some technical terms in this form. Please feel free to ask about anything you don't understand and to consider sharing your information and the consent form carefully – as long as you feel is necessary – before you make a decision. Please contact the BSF/BRR staff as listed above.

An Institutional Review Board, for the purpose of protecting your rights, has reviewed this Study Protocol for the BRR. An institutional review board is a group of people who are responsible for protecting the rights and welfare of people who participate in studies. For questions about your rights as a Study Participant in this BRR or to discuss other study related concerns or complaints with someone who is not part of the BSF/BRR team, you may contact North Star Review Board. Review and approval of this Study Protocol for the BRR by North Star Review Board is not an endorsement of the BRR or its outcome.

Who do I contact with questions?

If you have any questions or concerns about the registration process or about participation in the registry, please contact the Principal Investigator at melissa.huang@barthsyndrome.org". To inquire about your rights as a participant in the registry, you may also contact North Star Review Board at info@northstarreviewboard.org.

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

Although one of the main goals of the registry is to make it easier for participants to participate in research, there is no guarantee that an individual participant will be eligible for a particular trial or contacted about a clinical trial. Even if you are contacted about possible eligibility based on your information in the BRR, you may or may not meet the study requirements.

BSF may notify participants of the BRR potential clinical studies in which he/she may qualify to participate. Notification of potential clinical studies from BSF/BRR research staff does not mean that the BRR or its Sponsor, BSF, recommends you participate in that clinical study. Each study you enroll in will require that you sign an informed consent form for that study. Please make sure to discuss any study you are considering carefully with the clinical trial’s research staff before signing its informed consent form.

What are my options if I do not want to be in the BRR?

You do not have to join this registry. Participation is voluntary. You do not need to participate in this Registry to remain a member of the Barth syndrome community. Your decision about whether or not to participate in this registry will not affect your healthcare, your medical treatment or insurance benefits.