A Study of Patients With Dystrophinopathy (Duchenne and Becker Muscular Dystrophy) That Seeks to Understand How Different Mutations in the Dystrophin Gene Affect Disease Severity, and How Other Genes Besides the Dystrophin Gene May Influence Progression of Disease
Phase: Recruiting
First Posted: April
Condition(s): Dystrophinopathy, Duchenne Muscular Dystrophy (DMD), Becker Muscular Dystrophy, X-linked Dilated Cardiomyopathy
Other Study ID Number(s): UDP
What Is the Purpose of This Study?
The purpose of this study is to develop a catalogue of both clinical ("phenotype") and genetic ("genotype") features of patients with dystrophinopathies. We seek to understand how different variations in the dystrophin (DMD) gene, as well as in other genes outside of the X-chromosome, influence the symptoms and severity of the disease. An important component is seeking to understand the molecular mechanisms that explain a discordance between the severity predicted from a blood sample versus what is observed in a participant.
Who Can Take Part in This Study?
- Any individual with clinical diagnosis of dystrophinopathy, defined as Duchenne muscular dystrophy, Becker muscular dystrophy, X-linked dilated cardiomyopathy, or manifesting (female) carrier of these traits.
What Will Happen During This Study?
- Consent may occur in clinic or via the internet.
- 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.
- A DNA sample will be obtained from blood or saliva, or from an archived piece of muscle tissue if a biopsy was previously performed.
- A study coordinator will contact you about once per year to update your records.
Will We Be Paid for This Study?
No, participants will not be compensated for their time.
Principal Investigator
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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.
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