Engaging Participants in Rare Disease Research: A Qualitative Study of Duchenne Muscular Dystrophy

2016 ◽  
Vol 38 (6) ◽  
pp. 1474-1484.e2 ◽  
Author(s):  
Roxanna M. Bendixen ◽  
Lauren P. Morgenroth ◽  
Kristin L. Clinard
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Qualitative Study ◽  
Rare Disease ◽  
Disease Research

NIV in Duchenne Muscular Dystrophy : A qualitative study

2017 ◽  
Author(s):  
Helen Molloy ◽  
Victoria Beesley ◽  
Dipansu Ghosh ◽  
Mark Elliot
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Qualitative Study

Siblings of young people with Duchenne muscular dystrophy – A qualitative study of impact and coping

2011 ◽  
Vol 15 (1) ◽  
pp. 21-28 ◽  
Author(s):  
Joy Read ◽  
Maria Kinali ◽  
Francesco Muntoni ◽  
Timothy Weaver ◽  
M. Elena Garralda
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Young People ◽  
Qualitative Study ◽  
And Coping

scholarly journals Exon-Skipping in Duchenne Muscular Dystrophy

2021 ◽  
pp. 1-16
Author(s):  
Shin’ichi Takeda ◽  
Paula R. Clemens ◽  
Eric P. Hoffman
Keyword(s):  
Clinical Trials ◽  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Drug Development ◽  
Rare Disease ◽  
19Th Century ◽  
Exon Skipping ◽  
Clinical Development ◽  
Therapeutic Development ◽  
The 19Th Century

Duchenne muscular dystrophy (DMD) is a devastating, rare disease. While clinically described in the 19th century, the genetic foundation of DMD was not discovered until more than 100 years later. This genetic understanding opened the door to the development of genetic treatments for DMD. Over the course of the last 30 years, the research that supports this development has moved into the realm of clinical trials and regulatory drug approvals. Exon skipping to therapeutically restore the frame of an out-of-frame dystrophin mutation has taken center stage in drug development for DMD. The research reviewed here focuses on the clinical development of exon skipping for the treatment of DMD. In addition to the generation of clinical treatments that are being used for patient care, this research sets the stage for future therapeutic development with a focus on increasing efficacy while providing safety and addressing the multi-systemic aspects of DMD.

Meaningful occupations of young adults with muscular dystrophy and other neuromuscular disorders

2019 ◽  
Vol 86 (4) ◽  
pp. 277-288 ◽  
Author(s):  
Sally Lindsay ◽  
Elaine Cagliostro ◽  
Laura McAdam
Keyword(s):  
Young Adults ◽  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Qualitative Study ◽  
Neuromuscular Disorders ◽  
Living Well ◽  
Semistructured Interviews ◽  
Descriptive Approach ◽  
And Coping ◽  
Societal Expectations

Background. Youth with Duchenne muscular dystrophy (DMD) and other neuromuscular disorders are living well into adulthood and often need help engaging in meaningful occupations. Purpose. Our purpose was to explore enablers and barriers to engaging in meaningful occupations, from the perspectives of youth, parents, and practitioners. Method. This qualitative study involved 26 participants (11 parents, eight youth ages 19 to 28 [mean = 22.3 years], seven practitioners). Data were obtained from semistructured interviews and analyzed using an interpretive descriptive approach. Findings. Youth with DMD and neuromuscular disorders engage in meaningful occupations in a variety of ways. Occupational enablers were supports and accommodations and self-care skills and coping strategies, while occupational barriers involved societal expectations of a normative adulthood, discrimination and inaccessible environments, lack of supports and resources, medical challenges, fatigue, lack of motivation, and social isolation and depression. Implications. Practitioners should work to uncover what youth consider important and connect them to appropriate resources so they can engage in meaningful occupations.

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