Evaluation of Muscle, Skin and Other Tissues for the Study of Neuromuscular and Neurologic Diseases
Phase: Recruiting by Invitation
First Posted: April
Condition(s): Neuromuscular Disorders, Neurologic Disorders
What Is the Purpose of This Study?
The purpose of this study is to create a collection of muscle, skin and other cells to use as tools in seeking to identify the causes (and potential treatments) of neuromuscular and neurologic diseases.
Who Can Take Part in This Study?
- Any patients with a neuromuscular or neurologic disorder can be invited to participate in this study.
- Examples include (but are not limited to) Duchenne muscular dystrophy, Becker muscular dystrophy, limb-girdle muscular dystrophies, facioscapulohumeral muscular dystrophy, and others.
- Other family members or unrelated individuals not affected by a neuromuscular or neurologic disease may also be invited to enroll to provide appropriate control tissues.
What Will Happen During This Study?
The investigators will discuss with you which method is appropriate for obtaining useful tissue. Such methods include:
- Punch biopsy of the skin to grow skin fibroblasts
- Needle muscle biopsy of a muscle to obtain muscle tissue for:
- Studies of histopathology, protein expression, or RNA sequencing.
- Growing muscle cells (myoblasts)
- Obtaining a piece of muscle or skin for the above purposes during a clinical diagnostic procedure that is not related to research.
- Obtaining cell lines or frozen muscle tissues that have been archived elsewhere.
If proper consent is given, any of the above materials can be made available to qualified researchers at Nationwide Children's Hospital or elsewhere.
- Medical records (including historical data, and examination data from neuromuscular clinic visits with results of strength and function testing) will be extracted from clinical records and added to the database.
Will We Be Paid for This Study?
No, participants will not be compensated for their time.
Principal Investigator
Discover More Research
Explore additional studies relating to gene therapyYour Might Also Be Interested In
Duchenne Muscular Dystrophy (DMD)
Duchenne muscular dystrophy (DMD) is a rare condition defined by worsening muscle weakness and damage. It is the most common inherited neuromuscular disorder that affects all races and ethnicities. DMD only affects males and children with DMD may lose the ability to walk as early as 7 years of age.
Research and Clinical Care: How They Work Together to Treat Children
In this 700 Children's blog post for parents, Nationwide Children's highlights how clinical research and clinical care work together as a key part of our strategic plan to achieve the best outcomes for children. Before delving into these elements work together, the post covers the basics of clinical research.
Stay Updated With Clinical Research. Follow @NCHClinicalResearch on Instagram!
Parents and caregivers can learn more about clinical research on our Instagram channel, @NCHClinicalResearch. You can be part of the clinical research that moves us forward in our journey to best outcomes for all children, everywhere.