Please consider making the valuable gift of muscle tissue and blood samples to advance research efforts on Facioscapulohumeral muscular dystrophy (FSHD). Muscle samples are in extreme short supply and tissue donors are needed.
The FSH Society and Johns Hopkins School of Medicine, as part of the FSHD-Wellstone Muscular Dystrophy Cooperative Research Center, are recruiting volunteers with FSHD and their first degree unaffected relatives (for example: parent, brother, sister, or child of a person with FSHD) to provide muscle and blood samples. The collected samples will be used to learn more about how individuals with FSHD differ from individuals with normal muscle, in the search of treatments and a cure for FSHD.
In order to determine eligibility, you will need to provide a copy of your genetic testing diagnostic result and medical records indicating FSHD diagnosis. As of July 2011, the research study is increasing in sample size from 66 to 100 participants. Researchers at the NIH Boston Biomedical Research Institute’s Senator Paul Wellstone Center for FSHD Research have asked FSH Society to reach out to individuals with suspected FSHD related hearing loss, suspected FSHD related retinal issues, FSHD-effected individuals of minority race, or FSHD-effected individuals of minority ethnicity, but all are welcome.
If you have suspected FSHD related hearing loss, FSHD related retinal issues, an FSHD patient of individual of minority race, or an FSHD individual of minority ethnicity, please contact us at the contacts below. This additional information will not adversely effect your previous inquiry or consideration for inclusion into the study.
Volunteers will be asked to provide muscle and blood samples to a central laboratory dedicated to FSHD. This central lab will then provide the samples to researchers studying FSHD. Although there is no direct benefit to the volunteer from participating in this study, participation will be a great asset to the multiple studies at the FSHD-Wellstone and the larger FSHD research community.
Volunteers who choose to participate in this study will make two visits to Johns Hopkins School of Medicine: 1) Screening, 2) Muscle Biopsy and Research Blood Sample. However, if travelling from a distance, it can be arranged that both the screening and biopsy be performed during one extended stay.
The screening consists of a general history and physical examination, a neurological exam, and a collection of blood samples (about 8 teaspoons of blood will be taken). At the conclusion of the screening the Principal Investigator may determine that the volunteer does not qualify for participation in this study.
Muscle biopsies are taken from two locations (shoulder and upper arm) on the same arm and are performed in an operating room under local anesthetic similar to that used by a dentist. A small cut, about an inch long, is made and a small piece of the muscle, about the size of two pencil erasers, will be removed. After the biopsy, the surgeon will stitch the area with dissolvable sutures and a pressure bandage will be applied. The volunteer will be educated on the proper care of the incisions. On the day of the muscle biopsy, blood will also be taken (about 2 teaspoons).
Volunteers can anticipate being in this study for about two months. This is the time it will take to receive the results of the pre-biopsy blood work, scheduling, and to perform the biopsy.
Once blood and muscle samples have been collected, they will be stored at the tissue bank at Boston Biomedical Research Institute, headquarters for the FSHD-Wellstone Muscular Dystrophy Cooperative Research Center, and analyzed at various labs. Muscle cells isolated from the biopsies can be reproduced many times over, providing material for experiments by multiple research labs. The muscle tissue from the FSHD-affected participant remains paired with that of the unaffected relative so that familial and genetic differences can be observed.
The FSHD-Wellstone Muscular Dystrophy Cooperative Research Center has set a target of recruiting 15 FSHD-affected volunteers and 15 relatives each year to participate in this study.
All procedures, tests, drugs, or devices are part of this research and will be supplied free of charge. They include:
History and physical
Manual muscle strength testing
Coag Panel (PT, aPTTT)
Hepatitis B and C
Research blood for DNA
Volunteers will not be paid for their participation in this study. Volunteers will receive reimbursement for their travel expenses (i.e., mileage, airfare, hotel, cab fare) up to $1000, per person -$500 for the screening and $500 for the biopsy. All receipts for travel expenses must be submitted to Doris Walsh at the FSH Society to receive reimbursement; her contact information is listed below. Reimbursement(s) can be expected 4-6 weeks after submission.
For information on this research study and the FSH Society, and for participant travel reimbursement, please contact Doris Walsh, at:
FSH Society, Inc.
64 Grove Street
Watertown, MA 02472
(617) 658-7877, (617) 658-7811 Office
(617) 658-7879 Fax
If you would like more information about this clinical research study, please contact Genila Bibat, at:
Genila Bibat, M.D.
Research Study Coordinator
Center for Genetic Muscle Disorders
Kennedy Krieger Institute
Johns Hopkins School of Medicine - Neurology
707 North Broadway
Baltimore, MD 21205
(443) 923-2697 Office
(443) 923-2779 Fax
For Johns Hopkins School of Medicine details, IRB approval number and contact, please click HERE. For Amended IRB Change In Research Approval to increase in sample size (to 100 participants) please click HERE.
Thank you for your consideration and generosity!