Participating in Research
Many families have contacted us to express their interest in supporting the research on the congenital myopathies by participating in a study. While families should not expect that participation will have any direct impact on their medical care, they can be confident that their help is crucial to moving forward towards a better understanding of these diseases and eventual development of improved tests and treatments. 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 then help arrange for this testing to be done by a CLIA-certified clinical diagnostic laboratory.
For some families, results from these studies have opened the possibility for genetic counseling, carrier testing and prenatal diagnosis. These families have used this information to make informed decisions about family planning and other events in the future. Some participant families opt not to find out their genetic status. They just want to contribute to research, hoping that their participation will benefit others along the way. The congenital myopathies are generally not well understood. In the Beggs lab, we know we must start somewhere. To reach our goals, we count on volunteer families 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 to learn more about the congenital myopathies.
Families who participate take four steps:
1) Informed Consent
All participants carefully read and sign informed consent forms authorizing our lab to perform studies on their samples. Each participant family member needs to sign a consent form. A parent/guardian should provide consent if the participant is less than 18 years old.
2) 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 as part of the informed consent or by asking the patient (or a parent/guardian if the patient is less than 18 years old) to sign a medical release form. We may also ask some questions about the family's medical history. This can be done through a brief telephone interview. 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.
3) Blood Sample
We ask for a blood sample from all available and consenting family members. We need approximately three teaspoons for adults and at least one for children less than 3 years old. The blood sample will be used to isolate the genetic material (DNA). The DNA will be screened for alterations in genes that may cause the neuromuscular disease in the family. We can arrange the blood draw through a participant's physician or a nearby medical facility. All costs for the blood draw are paid by our laboratory.
4) Muscle Tissue from an Existing Biopsy
We would like to study a small piece of muscle tissue from you or your child in order to gain a better understanding of the neuromuscular condition in your family. This may be tissue remaining from a previous muscle biopsy, autopsy, or other medically indicated 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.
Why are muscle samples important?
Patients often ask why muscle samples are so important for our research. Some have expressed a concern about what we will specifically do with their tissue. The answer is simple. Because the congenital myopathies affect muscle tissue, a close look into the muscle of an affected patient is absolutely essential to give us a more clear understanding of their disorder. Here are a few examples of what we can do with a muscle tissue sample:
- Muscle tissue samples are used in microarray studies. Microarrays allow us to analyze the RNA, an important intermediary in the process of making proteins from DNA. Differences in RNA expression may suggest a mutation that would be missed if studying DNA only.
- We know of patients who do not have a mutation in any of the neuromuscular disease-causing genes we know about. For this reason, we suspect that there are additional genes yet to be discovered. Looking into the muscle itself can provide insights into this.
- The study of a muscle tissue sample gives us the opportunity to analyze the gene "networks" and learn about the process that leads to muscle disease.
- In some cases we will use the tissue to purify muscle cells, which we can grow in the lab and use as a model of your condition.
- If fresh (unfrozen) tissue is available, we may use the specimen to isolate cells for the purpose of researching possible treatments for neuromuscular disorders.
Cost and Time Commitment:
Participation is free of charge and travel to Boston is not required. The telephone interview, blood draw, and paperwork should take no more than 2 hours to complete.
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 significant to the family, we can have these results confirmed and reported by a CLIA-certified clinical laboratory. 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, nevertheless, are usually covered by most health insurance policies.
Our work consists of studies of indefinite duration. Therefore, it is impossible for us to predict when, if ever, we may have results. Often, studies may take several years or more to complete. Regardless, the participation of patients and their families is a generous contribution toward our understanding of the congenital myopathies. Participants and/or their physicians are welcome to contact us anytime for an update on the research.
If you would like to know more about this study, please contact us.