For more information, complete below:
Primary enrollment steps
- Fill out and submit response form
- The Project Manager (Annice Hill) will then contact you to answer questions and provide the specifics of enrollment
- Complete the informed consent process
- Send medical records including the diagnostic laboratory report that found a chromosome 18 abnormality
- Send blood from the affected person and their biological parents (when available) in the blood kit provided by the study for genetic analysis
What does enrollment involve?
When enrolling in the Clinical Research Center, we will ask you to do several things.
Review a packet of study information. This packet of information will tell you all of the ins and outs about participation. We ask that all families considering enrollment read this packet of information thoroughly. This is very important, as we want to be sure that all families understand the goals of the Research Center and how we go about accomplishing those goals. The patient coordinator can answer any and all questions that a family might have regarding participation in the research study.
Sign a consent form. The consent form lists all the potential benefits and drawbacks to participation in the research study. We ask that all participating family members sign a form to indicate that they understand what they are being asked to do as a part of the study.
Send a copy of the chromosome report. Because this is a scientific study, it is important to document the specific chromosome change that is present. In order to confirm the diagnosis, we ask that all participants send a copy of the chromosome report that identified the chromosome abnormality.
Provide blood samples. After signing the consent forms and sending the chromosome report to the Research Center, families will receive a kit in the mail. Families can take this kit to their physician’s office to obtain a blood sample. We ask for a blood sample from the person with the chromosome change. We also ask for blood samples from the biological parents, if they are available.
Provide medical records. Participating families will receive some blank medical record release forms. We ask that they complete the form for each physician that the person with a chromosome change sees. We are particularly interested in birth records, MRI’s, echocardiograms, abdominal ultrasounds, and EEG’s, if they have been completed. However, records from any specialists that the person with the chromosome change sees are also useful. The Clinical Research Center cannot reimburse copying or shipping costs.
Benefits of enrolling with us
There are several benefits of enrolling in the Research Center. First, you may be contributing to a better understanding of chromosome 18 changes as well as potential methods of treatment. You may also be “in the know” about the latest developments in chromosome 18 research. Study participants receive an annual newsletter that includes summaries of advances made in the last year; articles and information from our team of medical experts; and important study information. Lastly, by enrolling in the Research Center, your family may be eligible for additional studies in the future. This includes future studies evaluating treatment options as well as trips to San Antonio for a comprehensive series of clinical evaluations.
An important step in our research is defining the precise location of the breakpoint of the chromosome change. We must use precise methods to understand exactly where along the chromosome the change occurred. Therefore, we ask all patients to provide a blood sample for additional analysis.
We also request blood samples from the biological parents, if they are available. In nearly all cases, parents do not have a chromosome change themselves. However, comparing parents’ and their child’s DNA helps us to identify the precise breakpoints. It is also useful for us to know whether the change happened on the chromosome inherited from the mother or father. It is important to remember that the chromosome change happened very early in embryonic development, and that parents cannot cause a chromosome change.
In the past, we have been unable to release results of our molecular genetic lab tests. The main challenge to releasing these particular results has been the fact that we are not a CLIA-approved lab. That simply means that our genetics lab is a research lab. This is different from a clinical lab, which typically performs more routine medical tests, then generates a report to be included in your medical records. We have been working to find a way to be able to let you know what are our findings are despite our status as a research lab. We are happy to report that we have been successful! We are starting to send out individual participants’ genetic data to the families. We have started with the first enrollees in the study and are working through every study participant that has submitted a blood sample.
How will all this information be used?
The blood sample will be used to study the chromosome change in detail. The medical records will provide an overview of the individual’s health and development. We will store this information in secure databases. The overall results generated by the study will be published in scientific journals. However, individual results will be kept confidential.