Do not use this form for consenting research
participants unless the Johns Hopkins Medicine
Logo appears here.
Date: May 1, 2014
Principal Investigator: Aravinda Chakravarti
Application No.: NA_00073336
If you are using Epic, you must fax a copy of
this signed consent form to 410-367-7382.
Patient I.D. plate
RESEARCH PARTICIPANT INFORMED CONSENT AND PRIVACY
AUTHORIZATION FORM
Protocol Title:
Patient I.D. Plate
The Hirschsprung Disease Research Collaborative
Application No.:
NA_00073336
Sponsor:
National Institutes of Health
Principal Investigator: Aravinda Chakravarti, PhD
McKusick-Nathans Institute of Genetic Medicine
Johns Hopkins University School of Medicine
733 North Broadway, Room 579
Baltimore, MD 21205
Phone: 410-502-7525
Fax: 410-502-7544
1.
What you should know about this study:
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You are being asked to join a research study.
This consent form explains the research study and your part in the study.
Please read it carefully and take as much time as you need.
Please ask questions at any time about anything you do not understand.
Ask your study doctor or the study team to explain any words or information in this informed
consent that you do not understand.
The word biospecimen may be used in this consent form. Biospecimen may include any of the
following: blood, tissue, saliva, urine, bone marrow, cells, etc. Most biospecimens contain DNA,
which is the genetic code for each person.
You are a volunteer. If you join the study, you can change your mind later. You can decide not to
take part or you can quit at any time. There will be no penalty or loss of benefits if you decide to quit
the study.
During the study, we will tell you if we learn any new information that might affect whether you
wish to continue to be in the study.
For clinical trials: A description of this clinical trial will be available on
http://www.ClinicalTrials.gov, as required by U.S. Law. This Web site will not include information
that can identify you. At most, the Web site will include a summary of the results. You can search
this Web site at any time.
For clinical trials: If you would like to review the information for this study, or a summary of the
results, ask the study team doctor for the ClinicalTrials.gov study registration number.
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Logo appears here.
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2.
If you are a patient at Johns Hopkins, information about your research study participation will be
included in your medical record, which is used throughout Johns Hopkins. Doctors outside of Johns
Hopkins may not have access to this information. You can ask the research team to send this
information to any of your doctors.
When Johns Hopkins is used in this consent form, it includes The Johns Hopkins University, The
Johns Hopkins Hospital, Johns Hopkins Bayview Medical Center, Howard County General Hospital,
Johns Hopkins Community Physicians, Suburban Hospital, Sibley Memorial Hospital and All
Children’s Hospital.
The Johns Hopkins School of Medicine Institutional Review Board (IRB) sometimes reviews studies
that are conducted at other institutions. These other institutions are solely responsible for conducting
the study safely and according to the protocol that the Johns Hopkins IRB has approved. Information
about how to contact the investigator at the institution that is responsible for the study is included in
this form. When another institution is conducting the study, the word “we” in this consent form may
include both Johns Hopkins and the participating institution.
If children and adults can join this study, the word “you” in this consent form will refer to both you
and your child.
The person being asked to be in this research study may not be able to give consent to be in this
study. You are therefore being asked to give permission for this person to be in the study as his/her
decision maker.
As part of this study, we will collect genetic information about you that may include the DNA
sequence of specific genes or the whole genome, and the resulting data will be analyzed by the study
team and may be required to be deposited in the National Institutes of Health (NIH) Genome-Wide
Association Study (GWAS) repository. Please see the last page of this consent form for information
about GWAS and your data.
Why is this research being done?
This research is being done to collect samples and detailed medical information from people with
Hirschsprung disease and their family members.
We hope to use this data to identify genes that are involved in the development of, or susceptibility to,
Hirschsprung disease. The research will also look at how genes affect characteristics of the disease in
patients and how patients respond after treatment.
The information and samples will also be stored for possible use in other research studies about
Hirschsprung disease done by other researchers who are part of the Hirschsprung Disease Research
Collaborative.
People with Hirschsprung disease and their family members may join the study.
How many people will be in this study?
Up to 3,000 people will be enrolled in this study at several hospitals. Up to 1,000 will be enrolled in the
study at Johns Hopkins.
3.
What will happen if you join this study?
If you agree to be in this study, we will ask you to do the following things:
Data Collection:
 You will be asked to complete a family and medical history questionnaire that may take up to an
hour to complete.
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Date: May 1, 2014
Principal Investigator: Aravinda Chakravarti
Application No.: NA_00073336
You may also be asked to provide some medical records or to sign a consent form to allow the
researchers to request your medical records from your doctor(s).
You may be asked to undergo a brief physical examination performed by a board certified clinical
geneticist.
Sample Collection:
 You will be asked to allow us to collect about1-2 tubes of blood (depending on your size) from a
vein in your arm.
 In some cases, giving a saliva sample can be used instead.
 The blood or saliva sample will be used to obtain DNA for genetic analysis.
The questionnaire and the blood collection kit may be sent to you with instructions on how to return
them.
Your medical and demographic information along with results from this research study will be
maintained in a password-protected database in the Chakravarti laboratory. Your blood sample will be
given a coded number once it is received in the laboratory to protect your confidentiality. Results from
this research study will not be disclosed to you directly but general and summary results will be
published in scientific journals and discussed at scientific meetings. Information that would directly
identify you or your family will not be revealed or published. Coded samples or data with no directly
identifying information may be provided to other legitimate researchers for studies on Hirschsprung
disease. These researchers may be from Johns Hopkins or may be from other institutions. Data shared
with other researchers may include medical information and genetic data obtained during the study. We
will never share directly identifying information such as your name, date of birth, or address with
anyone outside of the Chakravarti laboratory without your expressed written consent, except as provided
in Section 10 of this form.
There may be new findings discovered which could have an impact on your or your child’s health. If
this occurs, you may be contacted by a study coordinator and the option of obtaining the information
will be explained to you. This information may or may not be related to Hirschsprung disease.
The Genetic Information Nondiscrimination Act (GINA) may help protect you from health insurance or
employment discrimination based on genetic information.
The law provides that health insurance companies and group health plans
 may not ask for genetic information from this research and
 may not use genetic information when making decision about eligibility or premiums
The law will not stop health insurance companies from using genetic information to decide whether to
pay claims. The law also will not help you get other types of insurance (such as: life, disability or longterm care).
You may be contacted in the future and asked to participate in additional studies. You do not have to
participate in any of these additional studies. You can decide about each study when you are asked.
Your blood sample may be used to create a living tissue sample (called a “cell line”) that can be grown
in the laboratory. This allows researchers to have an unlimited supply of your cells in the future without
asking for more samples from you.
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Do not use this form for consenting research
participants unless the Johns Hopkins Medicine
Logo appears here.
What you should know about the cell lines that will be derived in the course of this study?
 The cell lines created will be similar or identical to you genetically.
 The cell lines may be kept indefinitely.
 There is the possibility that your cells or the created cell lines might be used in research that will
involve genetic manipulation of the cells or the mixing of human and non-human cells in animal
models.
 The cell lines may be shared with researchers both inside and outside of Johns Hopkins, including
our commercial partners.
 The cell lines may be used to develop treatments for a variety of diseases and conditions.
How long will you be in the study?
After completing the medical and family history, providing permission to access medical records, and
donating the blood or saliva sample you will not need to do anything else to participate in the study.
You may be contacted after that and asked more information about your medical or family history. You
may be contacted later to ask if you are willing to submit a second sample. The study will continue
using your information and sample for years.
4.
What are the risks or discomforts of the study?
Blood Draw
The risks of a blood draw include brief discomfort, bruising at the site of needle entry, fainting, or
infection.
Sharing Medical Information
Despite our efforts to the contrary, loss of confidentiality remains a potential risk. Despite the GINA
protections and the best efforts of the research team, there may still be a risk if information about you
were to become known to people outside of this study.
Genetic Research
Family information such as mistaken paternity and adoption may be discovered in the course of this
research study but this information will not be disclosed to you or any other party. Genetic information
is unique to you, even without your name or other identifiers. For this reason, genetic information like
DNA may be used to identify you and possibly your family members. We have procedures (such as,
labeling your biospecimens with a password protected code known only to select research staff) to
prevent people working with your DNA from discovering if it belongs to you. However, there is the risk
this can happen as new ways of tracing genetic information are being developed that may make reidentification of genetic information possible.
Questionnaire
You may get tired or bored when we are asking you questions or you are completing questionnaires.
You may find some questions upsetting to answer. You do not have to answer any question you do not
want to answer.
There may be side effects and discomforts that are not yet known.
5.
Are there benefits to being in the study?
There is no direct benefit to you or your family from being in this study.
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Do not use this form for consenting research
participants unless the Johns Hopkins Medicine
Logo appears here.
If you take part in this study, you may help others in the future. The information gained from this study
will allow researchers to better understand which genes contribute to the development of Hirschsprung
disease. The information and samples collected from participants may also be used in other research on
Hirschsprung disease. The information gained from this research could lead to better detection,
treatment and management of the disease in the future.
6.
What are your options if you do not want to be in the study?
You do not have to join this study. If you do not join, your care at Johns Hopkins will not be affected.
7.
Will it cost you anything to be in this study?
No.
8.
Will you be paid if you join this study?
No.
9.
Can you leave the study early?
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You can agree to be in the study now and change your mind later.
If you wish to stop, please tell us right away.
Leaving this study early will not stop you from getting regular medical care.
If you leave the study early, Johns Hopkins may use or give out your health information they have
already collected if the information is needed for this study or any follow-up activities.
10.
How will your privacy be protected?
We have rules to protect information about you. Federal and state laws and the federal medical Privacy
Rule also protect your privacy. By signing this form you provide your permission, called your
“authorization,” for the use and disclosure of information protected by the Privacy Rule.
The research team working on the study will collect information about you. This includes things learned
from the procedures described in this consent form. They may also collect other information including
your name, address, date of birth, and information from your medical records. This could include
information about HIV and genetic testing, or treatment for drug or alcohol abuse or mental health
problems.
The research team will know your identity and that you are in the research study. Other people at Johns
Hopkins, particularly your doctors, may also see or give out your information. We make this information
available to your doctors for your safety. If you think this study might affect your clinical care, please
inform your doctor.
People outside of Johns Hopkins may need to see or receive your information for this study. Examples
include government agencies (such as the Food and Drug Administration), safety monitors, other sites in
the study and companies that sponsor the study.
We cannot do this study without your authorization to use and give out your information. You do not
have to give us this authorization. If you do not, then you may not join this study.
We will use and disclose your information only as described in this form and in our Notice of Privacy
Practices; however, people outside Johns Hopkins who receive your information may not be covered by
this promise or by the federal Privacy Rule. We try to make sure that everyone who needs to see your
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Date: May 1, 2014
Principal Investigator: Aravinda Chakravarti
Application No.: NA_00073336
information keeps it confidential – but we cannot guarantee that your information will not be redisclosed.
The use and disclosure of your information has no time limit. You may revoke (cancel) your permission
to use and disclose your information at any time by notifying the Principal Investigator of this study by
phone or in writing. If you contact the Principal Investigator by phone, you must follow-up with a
written request that includes the study number and your contact information. The Principal
Investigator’s name, address, phone and fax information are on page one of this consent form.
If you do cancel your authorization to use and disclose your information, your part in this study will end
and no further information about you will be collected. Your revocation (cancellation) would not affect
information already collected in the study, or information we disclosed before you wrote to the Principal
Investigator to cancel your authorization.
11.
Will the study require any of your other health care providers to share your health
information with the researchers of this study?
As a part of this study, the researchers may ask to see your health care records from your health care
providers. We will ask these health care providers to give us information about your health status or
your health care involving Hirschsprung disease and related gastrointestinal disease, genetic testing or
chromosome analyses, birth defects, and any chronic health problems.
You will be asked to give us a list of other health care providers that you use.
12.
What if there is a Certificate of Confidentiality for this study?
The National Institute of Child Health and Human Development has given us a Certificate of
Confidentiality for this study. This Certificate adds special protection for research information that
identifies you and allows us, in some circumstances, to refuse to give out information that could identify
you as a research subject without your consent, when such information is sought in a federal, state, or
local court or public agency action. Still, we may disclose identifying information about you if, for
example, you need medical help.
We may also disclose identifiable information about you as described in Section 10 of this form or in
other cases. For example, the government may see your information if it audits us, and the research team
will voluntarily comply with local disclosure laws and will tell the local or state authorities:
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if they suspect abuse, neglect or abandonment of a child or vulnerable or dependent adult;
if certain diseases are present; and
if the team learns that you plan to harm someone. In this case, the team also may warn the person
who is at risk.
This Certificate does not mean the government approves or disapproves of this research project.
13.
What does a conflict of interest mean to you as a participant in this study?
A researcher has a financial or other interest in this study.
In some situations, the results of this study may lead to a financial gain for the researcher and/or Johns
Hopkins. This financial interest has been reviewed in keeping with Johns Hopkins’ policies. It has been
approved with certain conditions, which are intended to guard against bias and to protect participants.
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Date: May 1, 2014
Principal Investigator: Aravinda Chakravarti
Application No.: NA_00073336
If you have any questions about this financial interest, please talk to Courtney Berrios at 410-502-7541.
This person is a member of the study team, but does not have a financial interest related to the study.
You may also call the Office of Policy Coordination (410-516-5560) for more information. The Office
of Policy Coordination reviews financial interests of investigators and/or Johns Hopkins.
14.
What treatment costs will be paid if you are injured in this study?
Johns Hopkins and the federal government do not have a program to pay you if you are hurt or have
other bad results from being in the study. However, medical care at Johns Hopkins is open to you as it
is to all sick or injured people.
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If you have health insurance: The costs for any treatment or hospital care you receive as the result of
a study-related injury will be billed to your health insurer. Any costs that are not paid for by your
health insurer will be billed to you.
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If you do not have health insurance: You will be billed for the costs of any treatment or hospital care
you receive as the result of a study-related injury.
By signing this form you will not give up any rights you have to seek compensation for injury.
For All Children’s Hospital participants:
Your child may experience an adverse event from participation in this research study. Should this occur,
contact the investigator immediately.
All Children’s Hospital, Inc. will not provide compensation for injury, illness, or other loss resulting
from participation in this study. For further information on this subject, please contact the Department of
Risk Management of All Children’s Hospital at 727-767-4287
15.
What other things should you know about this research study?
a. What is the Institutional Review Board (IRB) and how does it protect you?
The Johns Hopkins Medicine IRB is made up of:
 Doctors
 Nurses
 Ethicists
 Non-scientists
 and people from the local community.
The IRB reviews human research studies. It protects the rights and welfare of the people taking part
in those studies. You may contact the IRB if you have questions about your rights as a participant or
if you think you have not been treated fairly. The IRB office number is 410-955-3008. You may
also call this number for other questions, concerns or complaints about the research.
If you are a participant at All Children’s Hospital, you may contact the All Children’s Hospital IRB
Office at (727) 767-4275.
b. What do you do if you have questions about the study?
If you are participating in this study at Johns Hopkins Hospital, call the principal investigator, Dr.
Aravinda Chakravarti at 410-502-7525. If you wish, you may contact the principal investigator by
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Principal Investigator: Aravinda Chakravarti
Application No.: NA_00073336
letter or by fax. The address and fax number are on page one of this consent form. If you cannot
reach the principal investigator or wish to talk to someone else, call the IRB office at 410-955-3008.
If you are taking part at All Children’s Hospital, call Dr. Nicole M. Chandler at 727-767-4170. If
you cannot reach her, call the IRB Office at 727-767-4275.
c. What should you do if you are injured or ill as a result of being in this study?
If you are participating in this study at Johns Hopkins Hospital and think you are injured or ill
because of this study, call Dr. Fizan Abdullah at 410-955-1983 during regular office hours. If you
have an urgent medical problem related to your taking part in this study, call Dr. Fizan Abdullah
at 410-955-1983 during regular office hours and at 410-283-4061 after hours and on weekends; after
the tone, enter the phone number where you can be called, press the # key, and hang up.
If you are taking part at All Children’s Hospital and think you are injured or ill because of this study,
call Dr. Nicole M. Chandler at 727-767-4170 during regular business hours. If you have an urgent
medical problem after hours or on weekends related to your taking part in this study, call (727)
767-4170, and please tell the answering service that you need to speak with the practitioner on
call.
d. What happens to Data and Biospecimens that are collected in the study?
Johns Hopkins and our research partners work to understand and cure diseases. The biospecimens
and/or data you provide are important to this effort.
If you join this study, you should understand that you will not own your biospecimens or data, and
should researchers use them to create a new product or idea, you will not benefit financially.
With appropriate protections for privacy, Johns Hopkins may share your biospecimens and
information with our research sponsors and partners.
16.
Assent Statement
This research study has been explained to my child in my presence in language my child can understand.
He/she has been encouraged to ask questions about the study now and at any time in the future.
17.
What is a Genome-Wide Association Study?
Genome-wide association studies (GWAS) look at the genetic differences that exist in the entire human
genome (the complete set of human genes) and the association between these differences and health
conditions.
As part of this study, we will be collecting information about your health and your individual genes.
This information will be sent to the National Institutes of Health (NIH) GWAS database called dbGAP
(Database of Genotypes and Phenotypes).
The aim of collecting this information is to look for genetic connections that:
 may make people more likely to get a certain disease (such as asthma, cancer, diabetes, heart disease
or mental illness) or a condition (such as high blood pressure or obesity)
 may affect the progress of a certain disease or condition
 may affect treatments (medicines, etc.) that work for certain diseases in some people, but not in
others.
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Date: May 1, 2014
Principal Investigator: Aravinda Chakravarti
Application No.: NA_00073336
We will remove direct identifiers and code your information before sending it to the NIH. NIH will
never get this code or the identifiers we have removed.
We will not know what types of research will be done with the data that are sent to the database.
GWAS data will be shared with other researchers world-wide through the dbGaP Database. This
database is kept at the National Center for Biotechnology Information (NCBI) at the NIH.
Researchers must apply to NIH to use the dbGaP database. Special review committees will look at these
applications to decide whether or not to share the data. Researchers must agree to keep data safe and
use the data only for the purpose approved by the NIH.
What are the risks of data being stored for GWAS?
There may be risks to your privacy and the privacy of your relatives from storing your information in a
GWAS database.
Although we believe that the NIH privacy measures make this unlikely, there is a risk that your identity
could become re-connected with your genetic and health information.
If this happened –
 Information could be revealed that could lead to denial of employment or insurance for you or a
relative, or
 Law enforcement agencies might be able to demand information about you in connection with an
investigation.
Are there benefits to being in a GWAS study?
There is no direct benefit to you from GWAS research. The information from your data may lead to a
better understanding of how genes affect health. This may help other people in the future.
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18.
Date: May 1, 2014
Principal Investigator: Aravinda Chakravarti
Application No.: NA_00073336
What does your signature on this consent form mean?
Your signature on this form means that:
 you understand the information given to you in this form
 you accept the provisions in the form
 you agree to join the study
You will not give up any legal rights by signing this consent form.
WE WILL GIVE YOU A COPY OF THIS SIGNED AND DATED CONSENT FORM
___________________________________________________________________________________________________________
Signature of Participant
(Print Name)
Date/Time
___________________________________________________________________________________________________________
Signature of Person Obtaining Consent
(Print Name)
Date/Time
___________________________________________________________________________________________________________
Signature of Legally Authorized Representative (LAR)
(Print Name)
Date/Time
For ADULTS NOT CAPABLE of GIVING CONSENT (Persons from the following categories in order of
priority may be a Legally Authorized Representative: Health Care Agent; Legal Guardian;
Spouse; Adult child; Parent; Adult sibling; Friend or other relative)
________________________________________________________________________________________________________________________
Relationship of LAR to Participant (indicate why the LAR is authorized
to act as a surrogate health care decision-maker under Maryland Law)
Date/Time
____________________________________________________________________________________________________________
Signature of Parent
(Print Name)
Date/Time
____________________________________________________________________________________________________________
Signature of Legally Authorized Representative (LAR)
(Print Name)
Date/Time
For CHILD PARTICIPANT
____________________________________________________________________________________________________________
Description of LAR’s authority under Maryland Law to act as surrogate health care
Date/Time
decision-maker for child research participant (for example, Legal Guardian, court-ordered representative)
____________________________________________________________________________________________________________
NOTE: A COPY OF THE SIGNED, DATED CONSENT FORM MUST BE KEPT BY THE PRINCIPAL INVESTIGATOR;
A COPY MUST BE GIVEN TO THE PARTICIPANT; IF YOU ARE USING EPIC, A COPY MUST BE FAXED TO 410367-7382; IF YOU ARE NOT USING EPIC, A COPY MUST BE PLACED IN THE PARTICIPANT’S MEDICAL RECORD.
ONLY CONSENT FORMS THAT INCLUDE THE JOHNS HOPKINS MEDICINE LOGO CAN BE USED TO OBTAIN
THE CONSENT OF RESEARCH PARTICIPANTS. IF THIS CONSENT FORM DOES NOT HAVE A JOHNS HOPKINS
MEDICINE LOGO, DO NOT USE IT TO OBTAIN THE CONSENT OF RESEARCH PARTICIPANTS.
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