Understanding Your Participation

This Informed Consent document explains what the Barth Syndrome Registry and Repository (BRR) is and what is involved in joining the BRR.  You are being asked to join the BRR because you have been medically diagnosed with Barth syndrome, or you have a genetic mutation in the tafazzin gene. The purpose of this Informed Consent document is to help decide if you should join the BRR.    

In this Informed Consent document, “Participant” will refer to the person medically diagnosed with Barth syndrome or the person with a genetic mutation in the tafazzin gene.  The Participant and persons acting on behalf of the Participant are encouraged to ask questions at any time.

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 200 people world-wide.

It is important that we explain what is involved and what will be done with the information you provide to the BRR. This document contains questions and answers about information the BRR wants, why the BRR wants the information, how it might benefit you, and the possible risks and discomforts of giving the BRR this information.  After you have reviewed “Understanding Your Participation” in its entirety you will be directed to the “Informed Consent Registration page”. You will be asked a series of questions regarding participation and the use of the information you will be providing.  By answering these questions and agreeing to join the BRR you will be considered to have “consented” to the process of becoming a Participant of the BRR.  Because the BRR operates over the internet there are no actual signatures on the Informed Consent Registration page, but an electronic record of your consent will be recorded.

The last question of the Informed Consent Registration page or webpage will ask if the Pariticipant 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.   

Participation in the BRR is optional, and there is no cost to participate. If you have questions that are not answered by this document, please contact the BRR Principal Investigator (PI), Erik Lontok, PhD at: This e-mail address is being protected from spambots. You need JavaScript enabled to view it or by telephone at 914-303-6323, Ext. 706. You can also contact Valerie “Shelley” Bowen at phone number 914-303-6323 Ext.1 or email at This e-mail address is being protected from spambots. You need JavaScript enabled to view it . Shelley Bowen is the Director of Family Services and Awareness and Erik Lontok is the Director of Research for the Barth Syndrome Foundation.


What is the title or name of this registry?

The Barth Syndrome Registry and Biorepository, or the BRR for short.

Who do you call if you have questions about the BRR?

Call the Principal Investigator, Matthew J. Toth, Ph.D., at phone number 732-283-3417, or email at This e-mail address is being protected from spambots. You need JavaScript enabled to view it .  Matthew J. Toth is the Science Director of the Barth Syndrome Foundation. You can also contact Valerie “Shelley” Bowen at phone number 914-303-6323 or email at This e-mail address is being protected from spambots. You need JavaScript enabled to view it . Shelley Bowen is the Director of Family Services and Awareness of the Barth Syndrome Foundation.

Who is paying for the BRR?

The sponsor of the BRR is the Barth Syndrome Foundation, Inc., or the BSF for short.  There is no cost to be a Participant of the BRR.  All costs are paid by the BSF.

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.  Establishing the BRR addresses two critical needs.  First, researchers studying Barth syndrome need accurate, firsthand information to understand how Barth syndrome affects people. Second, researchers who are ready to start studies, such as those which test new treatments, will need to access the BRR to help identify people who may be eligible to participate in studies. If an affected individual looks like a good match for a specific study, the researcher will contact the BRR. The BRR or the BRR’s agent (such as genetic counselor) will then contact the Barth syndrome individual or the individual’s family.  Researchers will not directly contact Barth syndrome individuals or their families initially, because they will not know who you are; they will only see de-identified data or they will obtain de-identified biological samples.  It will be the choice of the Barth syndrome individual or their family to decide to initiate direct contact with the interested researcher.

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 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 PI 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) and the PI and Study Coordinator of the BRR are able to know the identity of the Participant.  The information provided by the Participant will become de-identified information and only this de-identified information will be shared with researchers.

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?

De-identified information is collected to maintain the privacy of the Participant.  There are no scientific reasons for including identifiers in the information the BRR is collecting, and researchers using this information do not need to know the identity of Participant in the BRR at first.  No personal identifying information in the BRR will ever be divulged to researchers.  If Participants want to contact researchers, that is their own affair.  The BRR hopes that researchers will develop treatments for Barth syndrome, and the BRR will advise Participants when this occurs, but it is always up to the Participant to initiate contact with any researcher.

What are the benefits of collecting an affected individual’s de-identified information in the BRR?

Although there is no direct benefit to any individual participating in the BRR, by collecting information on affected individuals in the BRR, researchers can:

  • study why individuals have different symptoms
  • learn about how certain treatments work and don’t work
  • help medical professionals improve how they treat affected individuals with Barth syndrome
  • speed up research in Barth syndrome by collecting information that scientists can use
  • let affected individuals (or their families) know when they may be eligible for clinical research studies or clinical trials

Whose information are you collecting in the BRR?

We are collecting data from individuals who have a medical diagnosis of Barth syndrome or who have a genetic mutation in the tafazzin gene.

Where will the information be stored?

All of the information will be maintained in a safe (secure) computer-based system.  The company chosen to develop and maintain the computer system for the BRR is Patient Crossroads.

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 complete the Informed Consent Registration page or webpage?

Affected individuals over the age of 18 (and who do not have a legal custodian) and who understand this Informed Consent document, are eligible to be a Participant of the BRR on their own.  Otherwise, the legal guardian, parent, or custodian of the Barth syndrome individual must complete the Informed Consent Registration page or webpage for the affected individual to be a Participant of the BRR.  When the affected individual becomes 18 (and if they are able), consent will be obtained directly from the affected individual so they can continue their participation in the BRR.

What are the steps to enrolling in the BRR?

You should finish reading this document, “Understanding Your Participation”, and then decide if you or the affected individual you are representing wants to participate in the BRR.  If you decide yes, then you will need to answer the questions on the Informed Consent Registration page or webpage at the end of this document. The next step is to provide basic information about the potential Participant and to create a login username and password for the potential Participant. Once you create this login, the potential Participant’s name and email address, or the email address of the potential Participant’s representative, will be sent to the Principal Investigator (PI) and Study Coordinator of the BRR. The Study Coordinator will confirm that the potential Participant can join the BRR. After the Study Coordinator provides approval, the affected individual is now considered a Participant of the BRR and will receive (or the Participant’s parent or guardian will receive) an email giving them access to the survey questionnaire part of the BRR.   These survey questions will include personal information, medical information, as well as information about family member(s) who have/had Barth syndrome.

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?



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 you 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.


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” or “de-coded” data (information from which all personal identification has been removed). That is what scientists, researchers, and clinicians will be allowed to see.

A subset of de-identified information collected from each Participant may be shared with certain other national and international databases. The BRR will combine its data with other databases so that broader research studies can be conducted across different medical disorders and diseases.  This may lead to new research studies, clinical trials, and clinical treatments.

For example, the BRR has been selected by the National Institutes of Health (NIH) through the Office of Rare Disease Research (ORDR) to participate in the Global Rare Disease Registry (GRDR).  The GRDR will serve rare disease patients and advocacy groups seeking help and information. It will also serve researchers developing new knowledge, clinicians treating patients, epidemiologists analyzing disease data, and investigators seeking patients for new clinical trials and initiating natural history studies. GRDR seeks to create private-public partnerships with different sectors of the community including advocacy, research, and industry.

Generally, only the BRR Principal Investigator (PI) and Study Coordinator will have access to the names of Participants in the BRR.  

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.

What are the potential benefits to you for taking part in the BRR?

There are no direct medical benefits to you at present.  As medical research advances, the information provided by the BRR may be useful in helping to discover a treatment for Barth syndrome or other diseases.  Participants may feel a personal sense of accomplishment for participating in a worthy scientific enterprise such as the BRR.  If the BRR is used by researchers to test new medical treatments for Barth syndrome, the BRR intends to communicate that information, but any contact between the Participant and researchers must be initiated by the Participant or the Participant’s representative to ensure the Participant’s privacy.

The Participant will also be able to compare their information to the aggregate of answers from other Participants.  This may provide a benefit.  The PI will also maintain a list of publications that used BRR information for the Participant to examine.

How could others possibly benefit from the BRR?

Research studies using medical information from the BRR may help advance the understanding of genetic disorders.  These studies may offer the possibility of developing clinical tests or clues to treatment that could directly benefit affected individuals. 

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.

Who should I contact if I have any questions?

If there are questions about the BRR that you do not understand, please contact the PI, Erik Lontok, PhD at: This e-mail address is being protected from spambots. You need JavaScript enabled to view it or by telephone at 914-303-6323, Ext. 706. You can also contact Valerie “Shelley” Bowen at phone number 914-303-6323 Ext.1 or email at This e-mail address is being protected from spambots. You need JavaScript enabled to view it .

If you have any questions regarding your rights as a research subject, or if you have questions, concerns or complaints about the BRR, you may contact:

Western Institution Review Board (WIRB)
3535 Seventh Avenue, SW
Olympia, Washington  98502
Telephone:  1-800-562-4789 or 360-252-2500

WIRB is a group of people who independently review research.  WIRB will not be able to answer some BRR-specific questions; however you may contact WIRB if the PI cannot be reached or if you wish to talk to someone other than the PI.