In related news, two top issues identified in a landmark MDA-funded survey of neuromuscular disease families were access to quality care along with a greater knowledge of genetic testing and clinical trials.
The fact sheet is intended for use by DMD families, patients’ teachers, and care providers, add includes an overview of Duchenne as well as its symptoms, treatment choices, essential facts and a terms glossary.
Its release was time with Duchenne Muscular Dystrophy Awareness Week, Feb. 13–18, a news release said. The three-page guide notes, for example, that Duchenne affects 1 in 5,000 newborn boys, and that, owing to advances in cardiac and respiratory care, their life expectancy is generally increasing.
The glossary explains terms such as “exon skipping,” a treatment strategy in which genetic code sections are bypassed, permitting cells to make partially functional dystrophin, the muscle protein missing in DMD.
The MDA also recently released the Duchenne Guide for Families, an extensive resource based on updated DMD care considerations published last year by the U.S. Centers for Disease Control (CDC). The guide provides comprehensive information related to Duchenne care, including disease progression, field specialists, tests, interventions, and necessary conversations.
The guide was produced in collaboration with the TREAT-NMD neuromuscular network, which aims to provide clinicians and researchers an infrastructure conducive to therapy development, increased collaboration and improved patient care; Parent Project Muscular Dystrophy (PPMD), which works to accelerate research, impact policy and ensure optimal patient care; and the umbrella patient advocacy group World Duchenne Organization (WDO).
More than 3,000 people living with a neuromuscular disease responded to the ONEVoice survey, the MDA’s first-ever patient experience survey conducted by Edge Research from Jan. 18 through Feb. 20, 2018.
Among these respondents were 2,430 adults with a neuromuscular disease, from Duchenne MD and Friedreich’s ataxia to Pompe disease and spinal muscular atrophy, and 932 caregivers or family members.
Based on survey results, key issues with likely solutions include a better understanding of the importance of genetic testing, raising knowledge about clinical trials, and increasing access to expert clinical care. Top concerns include access to expert health care, maintaining independence and mobility.
Nearly a third of adult patients said their diagnosis had not been confirmed through genetic testing, a process that can help predict disease course, identify recurrence risk, facilitate enrollment in clinical trials, and help in treatment plans. Likewise, a high interest in clinical trials, three-quarters of patient respondents have never participated in one.
More than three in four respondents reported concerns about access to quality health care, while 64 percent expressed worry about independence and mobility. Three of four (75%) of respondents also said they use MDA neuromuscular disease information, which includes the group’s national network of multidisciplinary care clinics.
“The ONEVoice study also found that the neuromuscular disease community is eager for information and counts on MDA to fill this need,” said Lynn O’Connor Vos, MDA president and chief executive officer, in a press release. “This survey is part of our continued commitment to engaging our community and doing our utmost to transform the lives of neuromuscular patients and their families.”
Go here for full survey results.
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