This section is intended to provide answers to frequently
asked questions. If an answer provided here is not clear,
if you want more details, if your question does not appear
in this section, or if you have any comments, please do not
hesitate to contact us. We will be glad to speak with you
on the telephone or communicate by electronic mail, whichever
method is more convenient to you. Please choose from one of
the following categories:
What is the purpose of the study?
The purpose of our research is to study the basic biology
of skeletal muscles and to use this information to understand
the genes and proteins involved in the cause of neuromuscular
disorders. We want to characterize the genes and proteins
that are involved at different stages of one's life in the
development of a normal neuromuscular system, verses a diseased
neuromuscular system.
Besides donating blood and/or muscle tissue samples,
are there others ways that I can help?
There are many things you can do to help. Go to Ways
to Help for more information.
Who can I contact at Children's Hospital about questions
on this research?
For questions or comments about our research, you can contact
the Children's Hospital's Clinical Investigations Office at
(617) 355-7052.
What are the benefits of participating in this research?
Our research could lead to new information about neuromuscular
disease and the genes involved. This information may lead
to better diagnostic tests, treatments and therapies. We may
also be able to find the genetic cause of the neuromuscular
disorder in your family.
What are the general risks of participating in this research? The risks of participating in this research study can
be summarized into five categories:
1. Risks associated with blood drawing.
You may experience minor discomfort, bruising, or rarely
dizziness or fainting as a result of having blood drawn.
When possible, we will draw blood at the time of a medically
indicated procedure so that you will not need to have blood
drawn only for research purposes.
2. Risks associated with the muscle biopsy procedure.
We will not ask you to have a biopsy solely for the purpose
of research. If your tissue sample is stored at another
hospital, we will ask your permission to have it shipped
to us. However, if you decide to have a muscle biopsy for
the use of our lab, the risks will be no greater than those
already associated with a surgical procedure. There will
be no added risk or discomfort other than those outlined
to you for the surgical procedure itself.
3. Risks associated with gathering family and medical history.
Some of the information regarding your family or medical
history may be uncomfortable to discuss. If this occurs,
these questions may be stopped at your request. You should
be aware that we may detect instances of non-paternity or
adoption. Please let us know in confidence if this is a
possibility, since it may interfere with our analysis. This
information will be kept in the strictest confidence and
will not be divulged to anyone.
4. Risks associated with genetic testing.
There is a chance that participation in this study could
cause emotional distress. Some people involved in genetic
studies have felt anxious about the possibility of carrying
an altered gene that places them at risk or that may be
passed on to their children. If these feelings arise at
any time during the study, you may contact
us and we will arrange for you to speak with a genetic
counselor.
There may also be social or economic risks associated with
the gathering of genetic information. Our testing may find
that you carry an altered gene that puts you at risk for
developing a muscle disorder. It is uncertain whether this
information could affect your ability to be employed or
insured. However, results from this research study will
not be available to anyone and will not be placed in your
medical record without your consent. It is therefore unlikely
that an insurance company or employer would ever learn of
such results.
5. Risks associated with participation in medical research.
Unfortunately, it is possible that no findings will result
from this research effort. Any significant findings that
do result may take months or years to complete. If you wish
to inquire into the progress of our research, you are welcome
to do so at any time.
For more details about the risks of participating in this
study, please contact us.
In addition to the risks associated with obtaining a
blood sample, is there a possibility of additional physical
risks?
There is no additional physical risk beyond the risks associated
with blood drawing.
What will happen if I become injured while I am participating
in the study?
If the injury research related, patients can request to
speak with a member of the Children's Hospital Consent Committee
by calling (617) 355-7502.
Will I be able to find out the results of the research?
Because our laboratory is a research laboratory, we cannot
release individual results directly to patients. This is
because in the United States, the Clinical Laboratory Improvement
Act/Amendment (CLIA) only provides authorization to clinical
laboratories to do so. However, if we do obtain information
that might be informative for the family, we may be able
to have these results confirmed and reported by a CLIA-certified
clinical laboratory. A CLIA lab meets government mandated
requirements for quality assurance and quality control and
is certified to release results from patient tests for clinical
and diagnostic purposes. Although participation in research
is free of cost, there is usually a charge associated with
confirming results through a clinical lab. The clinical
laboratory fees, however, generally covered by most health
insurance policies. Most CLIA laboratories will ask for
fresh blood samples in order to ensure the accuracy of the
results. If your results were confirmed, they would be reported
to your physician and made available to you with proper
genetic counseling. For more information on CLIA, please
visit the CLIA web site at www.clianet.org.
Our consent forms provide a space for the participant to
indicate whether s/he wishes to be contacted about availability
of results. If you choose to be contacted, you will be asked
to provide the name of the healthcare provider we should
contact to discuss making arrangements with a certified
lab. We will make every reasonable effort to get in touch
with the person you specify.
What if I do not want to be informed of my results?
Some individuals may want to contribute to research but
do not necessarily want information about their own genetic
status. Families have the option of participating in the
study without finding the results. Our informed consent
form has a space for the participant to indicate whether
s/he wishes to be informed of the availability of results
from this study. If the participant checks "no",
then we will not make any effort to contact the physician
if we have results pertaining to the participant's family.
Those participants who elect not to know about their results
are welcome to contact us
to inquire about the general status of our research.
If genetics services, tests, or treatments are developed
from this research, how will I be told about their availability?
If genetics services, tests, or treatments are developed
from this research, a member of our study will make all
reasonable efforts to contact participants, their referring
physicians, and/or the information will be published and
made available to the patient community through their personal
physicians.
May I ask a friend or family member to help me, either
while deciding to participate or while participating?
Of course! Candidate participants may want to discuss the
possibility of enrolling in this study with a support person.
It is also a good idea to discuss this option with a physician
and/or genetic counselor. It is not necessary to come to
Boston to participate in our study. Families can choose
a blood drawing place that is convenient and may want to
bring a friend or family member with them that day.
What will happen if I decide to withdraw from this project?
Your participation in this study is voluntary. You should
not feel any pressure to participate. You are free to withdraw
from the study at any time without any adverse effect on
your or your family’s medical care. Declining to participate
or withdrawing your participation will result in no loss
of benefits to which you are otherwise entitled. There may
be scientists at other institutions doing similar research
on neuromuscular disease. You are free to enroll in other
studies in addition to or instead of this one.
Why does the laboratory need blood samples from members
of my family who do not have the disease?
There are a few reasons why we ask for blood samples from
unaffected family members as well as from individuals who
have a neuromuscular disorder. One reason is that when we
find a genetic alteration in the patient, testing family
members who are not affected helps us determine whether
it is really the cause of the disease or just a benign variation
in the family. Looking at DNA from family members can also
tell us how the disease is inherited. In large families
where there are several individuals who have the disease,
we may be able to find the gene involved using a powerful
method called linkage analysis. Linkage analysis
is one of the most popular methods used to determine the
location of a disease-causing gene. Linkage analysis allows
identification of a piece of DNA that is inherited by all
family members affected by the disorder being studied, and
is not inherited by any of the unaffected family members.
This piece of DNA can be compared to a "sign post",
suggesting that the gene that is causing the neuromuscular
disease in the family may be close by, or linked to the
gene of interest.
This is why we need blood samples from both affected and
non-affected family members. We ask for blood samples from
as many family members as possible. The more people who
participate, the greater the chance we will find a gene
change as the cause of the condition in the family.
What happens if the laboratory needs to have other family
members involved in the study?
We will contact you directly to discuss the possibility
of having other family members involved. We may ask the
participant to tell other family members about our studies.
If other family members are interested in learning more
about our project, they can contact us and we will be happy
to talk with them and answer any questions they may have.
Will special services be available for me if I need
them (e.g., interpreters, braille, child care)?
Consent forms are available in both English and Spanish.
If the patient is not an English speaker, we can arrange
to have an interpreter if the patient comes to this hospital
for a blood draw. Braille and/or childcare services are
not offered.
Will the costs associated with travel, childcare, or
special services be reimbursed?
Travel to Boston is not required. Costs associated with
childcare and special services are not reimbursed by this
study.
What additional health care costs may be associated
with participation in this study?
There is a possibility that we are able to find information
that is clinically relevant to the family. If so, we can
have the results confirmed by a CLIA-certified lab. There
will most likely be a charge associated with this confirmation
testing, which will vary depending on the laboratory. Most
CLIA laboratories will require fresh blood samples in order
to ensure the accuracy of the results.
What will happen to the stored DNA sample or any of
my genetic information after this project is complete?
Any samples remaining from our research may be stored indefinitely
for use in future studies on neuromuscular disease. The
samples will remain in the possession of the researchers
involved in the Neuromuscular Disease Project. If the investigators
choose to share your samples with other investigators studying
neuromuscular disease, your samples will be assigned a unique
identification number and will be distributed without your
name, medical record number, or other information linking
the sample to you. Your identity will not be shared with
outside researchers without your explicit consent. If at
any time you would like to have your sample removed from
storage, please let us know and it will be transferred or
destroyed according to your wishes.
Will any of my genetic information be distributed to
pharmaceutical or biotechnology companies, genetic laboratories
or government agencies?
Samples and medical information obtained for this research
study will be accessible only by the researchers directly
involved in this study. We will not release your information
to others without your explicit consent.
What will happen to my cells, DNA, or personal genetic
information if I choose not to participate at all or withdraw
from the study?
You should not feel any pressure to participate. You are
free to withdraw from the study at any time without any
adverse effect on your or your family’s medical care.
Declining to participate or withdrawing your participation
will result in no loss of benefits to which you are otherwise
entitled. If at any time you would like to have your sample
removed from storage, please let us know and it will be
transferred or destroyed according to your wishes.
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How will confidentiality of the records, including photographs,
be maintained?
Samples and medical information obtained for this research
study will be accessible only by the researchers directly
involved in this study. We will not release your information
to others without your explicit consent.
Will the results from this study affect my ability to
be employed or obtain medical insurance?
The laboratories participating in the Neuromuscular Disease
Project do not intend to reveal research information regarding
your family. Your involvement and potential results are
kept privately and we will not release information unless
compelled to do so by law. Although we will do our best
to keep this information under strict confidentiality, there
is a risk that this information will become available to
employers or potential insurers. Certificates of Confidentiality
are in the process of being applied for that will protect
the investigators against disclosing any information that
may identify a research participant, even by a court supboena,
in and federal, state, or local civil, criminal, administrative,
legislative, or other proceedings. The researchers will
use the Certificate to resist any demands for information
that would identify you, except in the instance of child
abuse, intent to injure others or oneself, or other life-threatening
events.
Because of the small but real risks that employers or insurers
may become aware of a participant's genetic status or participation
in research, some laws have been created with the purpose
of protecting individuals from genetic discrimination. For
those covered by group policies, the Health Insurance Portability
and Accountability Act (HIPAA, 1997) declares that "genetic
information" cannot be considered a preexisting condition.
A preexisting condition is something for which the person
has been treated or diagnosed within the last six months
(including prescription medication). In other words, although
insurance companies are entitled to refuse to cover expenses
related to preexisting conditions, the HIPAA prevents them
to refuse to pay expenses just based on genetic information.
It is important to know that this law does not prevent insurance
plans from raising the cost of health plans for the entire
group. In addition, under HIPAA, the Department of Health
and Human Services promulgated several regulations regarding
privacy of genetic information. These regulations will not
be enforced until 2003.
The Equal Employment Opportunity Commission (EEOC), enforces
the Americans with Disabilities Act (ADA) to protect individuals
with disabilities from job discrimination. The EEOC investigates
claims in which the ADA has been violated, filing suits
seeking damages for those harmed by violations. Similarly,
the EEOC issued a guidance statement that the ADA would
also protect individuals who have been victims of genetic
discrimination.
These regulations help to shape the attitude of our society
towards this topic. In addition, most US States already
prohibit genetic discrimination by health insurers, employers,
or both. Despite this, our laboratories can not guarantee
that if this study reveals that you have a neuromuscular
disease-causing mutation there won't be economical implications
for you or your family. Nevertheless, it may help to know
that, as of today, there is no documented evidence of
health insurance discrimination resulting from genetic testing
or participation in research studies.
What is DNA?
Genetic information is coded in the DNA. Also known
as deoxyribonucleic acid, the DNA carries all the instructions
for life and development. For example, the DNA controls
how many fingers we have, the color of our eyes, and where
our legs are placed in our body. DNA can be thought of as
the recipe for life and development.
What is a gene?
A gene is a portion or segment of genetic material (DNA)
that determines a specific trait in a living organism. For
example, a specific gene will determine whether or not one
develops a neuromuscular disorder or develops a healthy
neuromuscular system. Human beings have approximately 40,000
to 50,000 genes.
What is a protein?
Proteins carry out different functions in our body. Some
proteins are responsible for making our teeth, others carry
oxygen in our blood, and others make up our muscles. The
instructions for making proteins are coded in the DNA in
our genes. Each gene carries the "recipe" for
making a specific protein.
Where can I search up-to-date information?
The best way to find out about recent research on neuromuscular
disease is to search medical and biology journals through
the National Institute of Health’s “PubMed”
website . Some of the journals are very specialized and
won’t be found in your public library, but you can
obtain the articles you want through a medical or science
library.
You and your physician can also get up-to-date information
on neuromuscular disease research by contacting the research
labs directly. Although they probably won’t answer
specific questions about your or your child’s symptoms
or recommend treatment (only your physician can do that),
many researchers are happy to discuss their work and recent
findings with patients, families, and healthcare providers.
Additionally, try contacting your local Muscular Dystrophy
Association Clinic for current information.
Will this research provide benefits now or "just"
future generations?
We certainly hope that we will find something that will
benefit patients in the near future. However, the experience
with most genetic diseases has been that it takes at least
several years from the time a causative gene or protein
is discovered before an effective treatment is developed.
We hope that recent advances in biomedical technology such
as gene expression “chips” (microarrays) will
expedite the process of finding a cure. There is no family
history of neuromuscular disease in my family prior to my
child. Can it be any cause and effect to cause a mutation
in the DNA in the mother or father before the child is born?
There is no family history of neuromuscular disease in
my family prior to my child. Can it be anything that the
parents did to cause a mutation in the DNA in themselves
(the mother or father) before their child was born?
There are many reasons that a mutation can arise. However,
none of these reasons are the fault of the parents! The
presence of a mutation in a child is only an effect of chance
and nothing can be done to prevent it.
Some of the reasons why a mutation may arise include the
following:
There may be some risk that oxidants, radiation, or toxins
that we are exposed to in our environment damage our DNA.
However, mutations also arise through the body's natural
process of DNA replication. Each time a cell divides (which
happens in our bodies during each second of every day),
the genetic material has to be copied or replicated. Sometimes,
during this process, a mistake happens, resulting in a altered
gene. Not all of these changes cause disease. They are an
important part of evolution. Actually, some genetic alterations
are known to make people resistant to certain diseases.
Has there been a questionnaire done for the parents?
Starting with them and looking at some similar common denominators
between the parents health and the childrens' health, may
this help to discover the onset of the gene mutation?
As far as we know, a study like this has not been done because
we have no reason to think that parents of children with
neuromuscular disease are any less “healthy” than
other people. Most of us probably carry a few genetic alterations
that, under certain circumstances, could potentially lead
to disease in our children. Judging by the fact that so
many parents of children with genetic diseases are healthy
and have no unusual history of exposures, we would guess
that most of these genetic changes originated by chance.
What is stem cell therapy?
Stem cells are the precursors of mature cells. They are
known as "pluripotent" because they have the capacity
of becoming blood, skin, muscle, and nerve cells, among
others. In 1999, a gene therapy study in mice showed that
stem cells can be used to deliver corrective genes. Hence
the term "stem cell therapy". The goal of stem
cell therapy is to use stem cells to bring therapeutic genes
to sites of disease, hoping that the therapeutic genes are
capable of "remodelling" organs and tissues affected
by genetic diseases.
The group's findings suggest that human's stem might be
manipulated to cure genetic disorders by correcting defective
organs and tissues throughout the body. Although the effects
of stem cell therapy in mice were not what would be required
for use in clinical trials, these scientists are still working
to improve this method of gene therapy. For more details,
read Stem Cells May Be Powerful Gene Shuttle (http://www.hhmi.org/news/stemcell.html)
Could stem cell therapy cure neuromuscular disorders?
Research on stem cell therapy is still in its early stages.
It is possible that it will be used in the future to treat
a variety of neuromuscular disorders. At present, however,
the method is still being studied in mice with muscular
dystrophy, and there are a few obstacles that need to be
resolved before the technique can be tested in humans. First,
researchers need to find out if muscle stem cells even exist
in humans. If they do, the next step will be to find ways
to grow stem cells in the laboratory in order to have enough
to inject into a patient. Finally, the number of donor stem
cells that are actually successful in "remodelling"
the muscle of the recipient needs to be increased in order
for the technique to actually cure neuromuscular disease.
