Living with Muscular Dystrophy

Participating in Clinical Research Means Giving of Yourself — Literally — to Science

Susan Williams Carney

The Informed Consent Authorization Form is 12 pages long. My husband, Allen Carney, reads it carefully, initials in several places and signs at the end. And that’s the easiest part of participating in a research project.

Allen Carney - Dr. Kathryn Wagner pre muscle biopsy Spring 2016
Dr. Kathryn Wagner and Allen Carney in pre-op for bicep muscle biopsy, April 7, 2016, at Johns Hopkins Outpatient Surgery Center, Baltimore, Maryland

Welcome to the world of giving your time and body to research for Facioscapulohumeral muscular dystrophy. My husband Allen, who lives with FSHD, has now been a part of five or more research projects in three different cities to help researchers investigate the disease. True to his Eagle Scout spirit, Allen feels compelled to be a part of research projects to try and expedite the eventual development of FSHD therapeutic treatments.

Those research projects rely on patients like Allen for blood and tissue samples, and he has gladly volunteered time and again to provide them. The last study he participated in consisted of giving eleven vials of blood to be sent to different studies in Iowa, Massachusetts and Maryland and to have a skeletal muscle biopsy. The sample from the muscle biopsy, a form of minor surgery, could one day be implanted into a laboratory mouse to analyze how novel therapeutics could improve FSHD muscle. Or it could be stored in a repository that can provide characterized FSHD cells and/or used as control muscle cells to labs studying FSHD. Despite the momentary discomfort, Allen realizes his contributions will continue to grow – literally. Muscle cells obtained from volunteers in this particular example are “immortalized” so that they will reproduce in a laboratory dish nearly indefinitely and not be exhausted. Biomaterials contributed to this program will therefore advance research of the investigators around the world.

Allen Carney - Missy Carney Cassidy Spring 2016
“Sibling Pair” research subjects Allen Carney and his sister Missy Carney Cassidy in Baltimore, Maryland at Johns Hopkins Hospital, April 6, 2016.

Our most recent research experience was with Kathryn R. Wagner, M.D., Ph.D., and principal investigator for a National Institutes of Health-sponsored project called Muscular dystrophy biomaterials for Wellstone Core. Dr. Wagner and her highly sophisticated team of researchers are located at The Center for Genetic Muscle Disorders at the Kennedy Krieger Institute, as a part of Johns Hopkins Medical Institutes in Baltimore, Maryland. Allen also sees Dr. Wagner as a patient in her “clinical practice.” Allen understands he is working with a cutting-edge researcher in a first rate facility. Dr. Wagner has multiple research projects ongoing in FSHD as well as other forms of muscular dystrophy. From the minute we walked into Johns Hopkins Kennedy Krieger Center for Genetic Muscle Disorders we had the feeling that we were a part of something much bigger than MD; we felt we were a part of a consortium of medical “think tankers” that will someday develop a viable treatment plan for those individuals who have FSHD. The feeling of hope in the Center is tremendous and the appreciation of our help was overwhelming. These professionals don’t see Allen as just another person with a disability. They see Allen as a part of the team whose efforts will stop the progression of this degenerating disease.

As Allen’s wife, I am very proud of his willingness to be a part of the bigger picture of research in FSHD. Is it fun to have eleven vials of blood taken? Is it an everyday event to have a muscle biopsy (minor surgery) and be told not to move your arm for 48 hours? I personally would answer “no” to the above two questions. However, Allen knows his DNA is being protected for further research projects in the USA and abroad. He hopes his efforts as a research subject will improve the quality of life for those individuals who also share his pain.

If you are interested in participating in a clinical research project, we would encourage you to do so. Your study may be the one that leads to a pharmaceutical treatment plan to reduce or stop muscle degeneration and promote healthy muscle growth. That’s powerful medicine.

Visit ClinicalTrials.gov and search “facioscapulohumeral” to find a research project in which you can participate.

Author’s note: Susan Williams Carney received permission to use personal references and pictures and accepted editorial suggestions from siblings Allen Carney and Missy Carney Cassidy as well as Dr. Kathryn Wagner.