Our research would not be possible without the gracious individuals
who volunteer to participate. Several individuals and families
have contacted us to express their interest in supporting
the research on muscular dystrophies and myopathies by participating
in our studies.
While it is important to recognize that participants should
not expect that participation will directly impact on their
medical care, participants can be confident that their help
is crucial to moving towards a better understanding of these
diseases and the potential for improved testing, treatment,
and therapy.
In the event that we make any clinically relevant discoveries
about a particular participant, that person may choose to
be notified through their physician of the availability of
a clinical test. We can help the person to arrange for this
testing to be done by a clinical diagnostic laboratory.
For some participants, results from these studies have opened
the possibility for genetic counseling, carrier testing, and
prenatal diagnosis. This amounts to not only potentially valuable
information for the participant, but for the family as well.
These families have used this information to make informed
decisions about the family planning and other future events.
Some participant families decided not to find out their genetic
status. They just want to contribute to research in hope that
their participation will benefit others along the way. There
is still much that is not understood about the muscular dystrophies
and myopathies. Research goals must be set and this includes
counting on volunteer participants and families who agree
to enroll in our studies. If you are the parent of an affected
child, or if you yourself are affected, you can make an important
difference by helping us learn more about the muscular dystrophies
and myopathies.
What kind of participants/families are
needed for our research?
We are interested in enrolling participants confirmed to have
one of the following neuromuscular disorders:
Individuals/Families
who participate take four steps:
INFORMED CONSENT – We will send you information
on the research study, along with an informed consent
form. All participants must carefully read and sign the
consent form, authorizing our lab to perform studies on
their blood or muscle samples. Each participant family
member needs to sign a consent form. A parent or guardian
should provide consent if the participant is under 18
years of age. Any questions you have regarding the consent
form should be presented to the research study coordinator
before you consent to participate. She would be happy
to clarify or explain any issues related to your participation
and our research. Alternatively, feel free to take the
information to your healthcare provider or genetic counselor
for assistance.
AUTHORIZATION FOR RELEASE OF MEDICAL INFORMATION –
We will ask written permission to obtain medical records
that are relevant to the diagnosis in the family. This
is done by asking the patient, or a parent/guardian if
the patient is less than 18 years of age, to sign a medical
release form. We may also ask some questions about the
family’s medical history in order to construct a
family tree. This can be done through a brief telephone
interview or through a mailed questionnaire. In the event
that we find a genetic change in the family, medical information
will enable us to compare genetic data with existing clinical
data.
BLOOD SAMPLE – We may ask for a blood sample from
all consenting family members. If no genetic analysis
was performed in that past on a potential participant,
drawing blood for such analysis is very useful to our
research. In this case, we need approximately 3-6 teaspoons
from adults and at least one teaspoon for children under
the age of 3. The blood sample will be used to isolate
the genetic material that we study, DNA. The DNA will
be screened for changes in genes that may cause the neuromuscular
disease in the family. We can arrange the blood draw through
a participants family doctor or a nearby medical facility.
All costs for the blood draw are paid by our laboratory.
MUSCLE TISSUE FROM AN EXISTING BIOPSY – Studying
muscle from an affected person can tell us a lot about
the genes and proteins involved in the disease. We can
help find out if any frozen tissue is still available
from an existing muscle biopsy and, with the family’s
permission, arrange to have it shipped to our laboratory
for our research. Alternatively, if the patient is scheduled
to undergo a surgical procedure in the near future, this
may provide an opportunity to donate a muscle specimen.
With some procedures, it is possible for the surgeon to
remove a small piece of muscle without any additional
risk or discomfort to the patient.
Who Will Have Access to Your Information?
All the information obtained is confidential and will only be
shared among the researchers working on the Neuromuscular Disease
Project. Any information regarding participants will not be
made available to others without your explicit permission. The
results of our studies are considered research and are not part
of your medical record. In addition, each participant will be
given a unique code. This code will serve as an identifier so
that no participant names will appear on specimens or in our
database. All information pertaining to a given participant
will be tracked using this code in order to maintain confidentiality.
Certificates of Confidentiality
The researchers who are part of this project have applied for
a Certificate of Confidentiality, which is issued by the National
Institutes of Health (NIH). Although these certificates are
not required by the NIH, we felt we would like to take this
extra step to protect the individuals who participate in our
research. A Certificate of Confidentiality protects the privacy
of research participants by protecting investigators and institutions
from being compelled to release information that could be used
to identify research participants in a research project. By
offering this added level of protection, we hope that participants
will feel more comfortable about participating in research studies.
There is further information about the certificate in the patient
consent forms.
Reporting of Results
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.
Study Duration
The research we are conducting consists of studies of indefinite
duration. Therefore, it is impossible for us to predict when,
if ever, we may have results. Often, research studies take years
to complete, as we need to look at DNA and muscle samples from
many participants and carefully evaluate what we see. Regardless,
the participation of patients and their families is a generous
contribution toward our understanding of neuromuscular diseases.
Participants and/or their physicians are welcome to contact
us at anytime for an update on our research.
For more information on our research, please contact
us.
