For Scientists |
 |
FSHD Harvested Tissues at the NICHD Brain and Tissue Banks
Please consider educating your patients and research subjects about the need for FSHD tissue donation while living and at death. Please get the word out and encourage individuals involved with FSHD (affected and unaffected) to sign up to be tissue donors. Also, please be aware that valuable tissues such as muscle can be obtained from certain types of surgery such as scapular fixation. A sample protocol and a sample Consent to Participate in Research form for clinicians and surgeons are presented below. These forms are only examples. Before using any form, the form must be reviewed, approved and/or modified by the investigator, the institution and any applicable review boards. These forms are provided for general informational and educational purposes only. The FSH Society and this website do not provide medical or legal advice or recommendations. Neither the FSH Society nor any contributor to this website can be liable or responsible for anything related to the use of these forms. The National Institutes of Health (NIH) National Institute of Child Health and Human Development (NIH NICHD) Brain and Tissue Bank for Developmental Disorders at the University of Maryland in Baltimore is a tissue resource center established by the NIH NICHD to further research aimed at improving the understanding, care and treatment of developmental disorders. The NICHD Brain and Tissue Bank serves as an intermediary between the research community and people who wish to donate tissue for research upon the time of their death. The bank safely stores the tissue until qualified researchers request the tissue for research which has been approved by their Institutional Review Board. Both people with developmental disorders and people free of disorders are encouraged to register and donate tissue. Often it is the comparison of the unaffected with the affected that unlocks the medical mystery of a disorder. FSHD is the second most prevalent adult muscular dystrophy. FSHD affects men, women and children. The availability of tissue from donors with this disorder is especially limited. As more tissue becomes available and more researchers dedicate their life’s work to this disorder, new discoveries can lead to treatments, and eventually, to a cure. It is only through the study of donated tissue that important answers will be found. If you are interested in becoming a registered donor, or if you have any questions or concerns regarding the donation process, please contact Melissa Larkins, Project Coordinator, at (800) 847-1539 during normal business hours (9 a.m.-5 p.m. EST Monday through Friday). Ms. Larkins can be reached any time in an emergency. Thank you for taking the time to consider tissue donation. Please visit their website www.btbank.org or contact Melissa Larkins, Project Coordinator * * * * * * * * * Example 1 Example of a Proposed Protocol for Scapular Fixation Samples NOTE: This is an example only; investigators will need to consider and modify accordingly. STUDY TITLE: Muscle surgery and blood samples from patients with facioscapulohumeral muscular dystrophy or other neuromuscular diseases to be used for cell culture and DNA and RNA analysis I. INTRODUCTION Facioscapulohumeral muscular dystrophy (FSHD) is a unique disease. It is dominantly inherited when a DNA repeat array (D4Z4) on the end of the long arm of chromosome 4 is too short. Skeletal muscle samples from severely affected, moderately affected, and unaffected tissue of FSHD patients as well as disease controls are needed for research on FSHD. Surgery specimens are generally much larger than biopsy specimens and so should aid research on this enigmatic disease. II. PURPOSE: To obtain three types of tissue samples for establishing cell cultures (myoblast cultures) for research and for isolation of RNA and DNA from muscle to study the genetic basis of the disease. 1. muscle aliquots transferred sterilely to previously sent tubes containing transfer medium and shipped to participating research labs on cold packs (not frozen) the day of surgery for next morning delivery; 2. muscle aliquots that are snap-frozen (for example in liquid nitrogen) in cold-resistant cryovials on the day of the surgery, stored at -80C, and, when convenient, shipped on dry ice to participating research labs, where they will be used for analysis of RNA and DNA; 3. when possible, a 20-30 ml blood sample from the patient shipped on a cold pack for determination of the size of the FSHD-linked DNA array (D4Z4) by pulsed field gel electrophoresis. III. PATIENT CONFIDENTIALITY All information will be recorded in such a way that patient confidentiality is protected and subjects cannot be identified. The participating research laboratories will not need to ascertain the identity of these individuals in the future. IV. PROCEDURES PRIOR TO SURGERY (1) Within one month of surgery, obtain from each participating laboratory eight sterile plastic tubes (15-ml) filled to the top with transfer medium, sterile 20% FBS/F10 medium and five sterile cryovials (approximately 2-ml, empty). The tubes and vials will be labeled by the participating laboratory with the name of the laboratory and will have a place to put the code number assigned to the patient. The tubes will also have the date that the medium was sent and they will be stored at refrigerator temperature. (2) At least one week before surgery, send an email to each participating laboratory about what day the samples are expected to be sent and follow up with a phone message if there is no response to the email. (3) Obtain consent from patients for use of otherwise discarded surgical samples. If the patient agrees to give a blood sample, obtain consent from patient for drawing a blood for this research project. SURGICAL SAMPLES TO BE HANDLED STERILELY AND SHIPPED WITHOUT FREEZING ON THE DAY OF SURGERY FOR CELL CULTURE (4) On the day of surgery and as soon as possible after the surgery, using sterile technique, put one aliquot (about 3-5 grams) of the otherwise discarded muscle surgical sample into each of three to six sterile tubes containing transfer medium for each participating laboratory. If enough tissue is available, send two tubes with severely affected, two with moderately affected, and two with unaffected muscle to each participating laboratory. If less tissue is available, send to each participating laboratory a total of only three tubes with severely affected or moderately affected and unaffected muscle. (5) Label each tube as follows: FSHD samples: F followed an arbitrary number and a designation of severely affected, moderately affected or unaffected as well as the type of muscle and the location in the body. Disease control, non-FSHD patients: DC followed by an arbitrary number and a designation of severely affected, moderately affected or unaffected as well as the type of muscle and the location in the body. (6) Put all the tubes containing samples in a sealed bag, surround the bag with cold packs, and send to the participating laboratories by FedEx the same day in a Styrofoam box containing packing material. The box for shipping the sample needs a "Do Not Freeze" label on the outside of the package. Check NEXT MORNING delivery on the FedEx form. (7) On the day of surgery or early the next morning, notify participating laboratories by email of the upcoming delivery and include the tracking number. (8) Some time during that week, send an anonymous description of the age, gender, and a brief summary of the clinical and histological findings for the tissue samples labeled with the same code used on the sample tubes. SURGICAL SAMPLES TO BE SNAP FROZEN, STORED AT -80°C, AND SHIPPED LATER ON DRY ICE (9) The remaining, otherwise discarded surgical sample should be cut and distributed among 2 - 4 cryovials per participating laboratory. These cryovials should be labeled the same way as the tubes with medium. After addition of the samples to the tubes, they should be snap-frozen and stored at -80°C. (10) They can be shipped on dry ice to the participating laboratories at a later date. The laboratory contact person should be notified several days in advance of the shipment and then sent the tracking number on the day of shipment. BLOOD SAMPLES TO BE SENT WITHOUT FREEZING ON THE DAY OF COLLECTION (11) If the patient consents in writing, obtain 20 - 30 ml of blood from the patient. The blood sample should be collected in purple-capped blood tubes. It need not be collected on the day of surgery. (12) The blood samples are to be shipped at ambient temperature on the day that they are obtained to the one participating lab that is determining the sizes of the FSHD-linked D4Z4 arrays. The samples should be shipped in a Styrofoam box with packing material. Check NEXT MORNING delivery on the FedEx form. For downloadable sample version of the Sample Protocol please click, HERE * * * * * * * * * Example 2 Example of a Consent Form For Participation in a Neuromuscular Research Study NOTE: This is an example only; investigators will need to consider and modify accordingly. INTRODUCTION You/your child are being invited to be in an experimental research study because you have/your child has a muscle disease. Please ask us about anything in this document or that we tell you that you do not understand. PURPOSE The purpose of the study is as follows: 1. To study the hereditary makeup of the muscle in patients suffering from neuromuscular disorders, by analyzing the DNA, RNA (inherited family features) and proteins (an essential chemical blend) in muscle biopsy specimens. PROCEDURES 1. During the process of performing surgery to attempt to improve the symptoms of the underlying muscle disease (requested by your treating physician), some of muscle tissue that has to be removed and would otherwise be discarded will be used for the research studies. The DNA and RNA (inherited family features) removed from the muscle will be studied at once or stored for study at a later date. The tests will help us better understand which hereditary factors may be responsible for different neuromuscular diseases and the role of other factors that may be produced by these hereditary factors. 2. The small sample removed will be shared with other researchers who will grow cells obtained from your muscle sample in a test tube to look for hereditary factors (genes) that may be associated with neuromuscular diseases. 3. The samples will be identified only by a code number and the other researchers will not know your identity. 4. Your/your child’s active participation in this study will last until the specimen has been collected. 5. If you approve, a member of the clinical staff will draw 10 – 30 ml (2 - 6 teaspoons) of blood from your/your child’s arm. RISKS There is no extra from using for research purposes some of the removed muscle that would otherwise be discarded. This surgery was recommended by your/your child’s treating physician for the best care of your/your child’s muscle disease. You/your child may experience the risks and complications of muscle surgery: bleeding, pain, scar or allergic reaction to local anesthetic agent and delayed wound healing. For the blood donation, what we know about the risk for giving blood is that there might be a small amount of pain for a short time and a very small chance of infection. BENEFITS You/your child will not receive any direct benefit from participating in this study. We do hope to learn information that may benefit others in the future from this research. ALTERNATIVES The alternative is to not participate in this study. COSTS You/your child will not be charged for additional tests and procedures which are performed only because you/your child are participating in this research. Your/your child’s responsibility to pay for other medical treatment will not be changed by you/your child’s participation in this research project. In the case of injury of illness resulting from your/your child’s participation in this study, medical treatment is available to you/your child at the NAME OF MEDICAL CENTER. You/your child will be charged the usual and customary charges for any such treatment you receive. COMPENSATION You/your child will not be paid for your/your child’s participation in this study. VOLUNTARY PARTICIPATON Your/your child participation is voluntary. If you/your child decide not to participate in this study you/your child will not suffer a penalty or loss of benefits to which you/your child are otherwise entitled. If you/your child decide to participate in this study you/your child may discontinue your/your child’s participation at any time, without penalty or loss of benefits and it will have not effect on the quality of your/your child’s medical care. If you/your child do not sign this consent document you/your child will not be enrolled in the study. Signed copies of this consent document will be: 1. retained on file by the Principal Investigator, WITHDRAWAL You/your child may choose to stop your/your child’s participation in this study and withdraw at any time. If you/your child decide to withdraw the information already collected about you/your child may still be used in this study. Your/your child’s decision to stop your/your child’s participation will have no effect on the quality of medical care. NEW INFORMATION You/your child will be told of any information we learn during your/your child’s participation in this study that may affect your/your child’s willingness to participate. CONFIDENTIALITY Study information will be kept private. Study records may be reviewed by the Food and Drug Administration (FDA), the Office for Human Research Protections (OHRP), and the NAME OF MEDICAL SCHOOL Institutional Review Board (IRB) and Office of Compliance. You/your child will not be identified in reports or publications of this study. Protected health information is any personal health information through which you/your child can be identified. The data collected in this study includes: initials, date of birth, brief medical history. A decision to participate in this research means that you/your child agree to use of your/your child’s health information for the study described in this form. The information will not be released beyond the purposes of conducting this study. The information collected in this study will be kept indefinitely. While this study is ongoing you/your child may not have access to the research information, but you/your child may request it after the research is completed. NUMBER OF PARTICIPANTS We expect XXX participants to enroll in this study here. QUESTIONS If you have any questions about this study or need to report any problems, side effects or injuries, please call the Principal Investigator, Dr. NAME, whose phone number is XXX and the hospital telephone operator can page the doctor on call. You may discuss your/your child’s rights as a research participant with the Chairman of the Institutional Review Board, NAME, ADDRESS, AND PHONE NUMBER OF THE MEDICAL CENTER. The Institutional Review Board is a group of people not involved with this study who have reviewed the study to protect your/your child’s rights. STATEMENT OF PARTICIPATION IN THE MUSCLE TISSUE PART OF THIS STUDY I/my child have been told about this study and the possible risks and benefits. My/my child’s participation in allowing some of the surgically removed muscle tissue to be used for research is voluntary and I/my child may withdraw at any time without any penalty or loss of benefits to which I/my child am entitled, including medical care at the NAME OF MEDICAL CENTER. By signing this form I/my child am not giving up any legal rights I/my child may have. For downloadable sample version of the “Consent to Participate in Research Form” please click, HERE TEXT SIZE
  |
FSH Society, Inc. • 64 Grove Street • Watertown, MA 02472 • Tel: 617 658-7878 • Fax: 617 658-7879
Wanted in Life and in Death – FSHD Tissue Donation