University of Nevada, Reno Institutional Review Board Approved on: August 5, 2019
Title of Study: Genetic and epigenetic determinants of neuromuscular diseases
Principal Investigator: Peter Jones, PhD
Co-Investigators / Study Contact: Takako Jones, PhD; David Fiore, MD; David Howard, MD
Study ID Number: 1316095
Sponsors: UNR Medical School
SUMMARY OF KEY ELEMENTS:
This is a medical research study. Your participation is your choice alone. The purpose of the study is to evaluate new ways to diagnose neuromuscular diseases. Neuromuscular diseases (NMDs) can affect the nerves that control the muscles you move voluntarily or the muscles themselves. The techniques used in this research are experimental, and have not been approved by the FDA or any other health authority. This research will evaluate the validity of new neuromuscular disease testing, and could identify new neuromuscular disease genes. You will be asked to provide a saliva sample. We will then collect the DNA from the sample (DNA stands for deoxyribonucleic acid. It is the genetic code of organisms). The DNA will be sequenced and checked for any changes or mutations. In addition, the DNA will be checked for epigenetic changes. Epigenetics refers to heritable modifications to the DNA that affect if a gene is expressed (turned ON or OFF) but does not affect the DNA sequence itself.
The potential risk of participation in this study is that these tests are experimental. The results, if returned to you, may not accurately identify a particular neuromuscular disease or accurately rule out a neuromuscular disease diagnosis. These tests are currently in the research stage. The results will not represent a medical diagnosis. If you choose to have the results returned to you, the potential benefit of participating in this study is that you may learn if you have the genetic markers for a particular neuromuscular disease and the identity of the disease. This may aid you in seeking appropriate clinical help or to make family planning decisions. If you choose not to have the research results on your sample returned to you, there is no direct benefit to you for being in this study. You will, however, be helping us better understand neuromuscular diseases, and to design better molecular testing. The alternative to being a participant in this study is to undergo standard genetic testing at an alternative commercial or research site, rely strictly upon clinical testing, or to not undergo any genetic testing.
Why are we doing this study?
We are doing this study to develop a more affordable and easy to use molecular diagnostic test for facioscapulohumeral muscular dystrophy (FSHD). We also want to identify disease mutations (random changes to DNA structure) associated with FSHD and other neuromuscular diseases.
FSHD is a genetic muscle disorder that affects the muscles of the face, shoulder blades, and upper arms.
Benefits of research cannot be guaranteed. We hope to produce a highly accurate, affordable, and accessible molecular diagnostic test for FSHD and to find new neuromuscular disease genes.
How many people will be in this study?
We expect to enroll 1000 participants at the University of Nevada, Reno School of Medicine.
Who will know that you are in in this study and who will have access to the information we collect about you?
The researchers, the University of Nevada, Reno Institutional Review Board, and US Department of Health and Human Services (DHHS), will have access to your study records.
How will we protect your private information and the information we collect about you?
We will treat your identity with professional standards of confidentiality and protect your private information to the extent allowed by law. We will do this by keeping your information in a password protected and HIPAA-compliant database at UNR School of Medicine.
We will not use your name or other information that could identify you in any reports or publications that result from this study unless you approve in writing.
BioRegenex pty ltd is not affiliated with this study, the researchers conducting this study or The University of Nevada, Reno.
If you would like more information or are interested in participating in this research please contact us.