How to Enroll a Patient into our Research
1) Obtain written informed consent
All participants must read and sign our IRB approved informed consent forms in order to take part in this research. If there is muscle tissue available from the affected patient (see #2 below), the patient (or parent/guardian if less than 18) must sign a consent form for DNA studies and a consent form for muscle tissue studies. Clinicians obtaining consent from their patients sign as our "collaborating physician/genetic counselor" on section IX of the consent forms.
We will be glad to answer your questions and assist you in this process. If you are a physician or a genetic counselor and would like to download our informed consent forms from this Web site, click here. To obtain your password, contact Elizabeth Taylor DeChene.
2) Locate specimens
For our studies, we will need:
- Blood samples from the affected patient and all available and consenting first-degree relatives.
- Unfixed, frozen muscle tissue. Often, we can use tissue remaining from a surgical biopsy or autopsy. Alternatively, if a surgical procedure is planned for the near future, this may provide an opportunity to obtain a muscle specimen without additional risk or discomfort to the patient. If you are a physician or genetic counselor and would like access to the instructions for submitting specimens, contact Elizabeth Taylor, to obtain your password.
3) Gather copies of relevant medical records
Medical records will help us correlate our findings with existing clinical data. If available, please send a pedigree, including all affected family members and first-degree relatives of each. Also, muscle pathology reports, EMG, serum muscle enzymes, and results of any other neuromuscular-related tests are important. Please also include notes from neurologists and/or geneticists describing initial presentation.
Please ask your patient to sign an authorization for release of medical information.