Independence, mobility, the cost of medical devices and equipment, as well as uncertainty about the future, are the top concerns for patients and families living with neuromuscular diseases, including Charcot-Marie-Tooth (CMT) disease, according to a U.S. survey by the Muscular Dystrophy Association (MDA).
Within the past four years, the U.S. Food and Drug Administration has approved eight new treatments for neuromuscular diseases. While therapy development is crucial, it should go hand-in-hand with patients and their family’s feedback, paying special attention to their unmet needs, according to the MDA.
To address this, the nonprofit, which serves as the umbrella organization for more than 40 neuromuscular diseases, including CMT, conducted the nationwide survey to assess patients’ experiences and what they consider most important in the next steps of therapeutic development.
The online survey, called “One Voice:Insights and observations from a national survey of adults and families living with neuromuscular disease,” was commissioned to Edge Research and distributed by the MDA through multiple channels.
A total of 3,362 members of the MDA community participated in the survey. Those who responded included 2,430 adult patients — 451 (13%) of whom had CMT — and 932 parents/caregivers, of whom 727 were parents.
Composed of more than 50 questions, the survey sought to identify the needs of individuals and families living with neuromuscular diseases, focusing on themes such as the day-to-day needs and challenges of patients and caregivers; their experiences related to disease management; and treatment benefits and risks, among other topics.
Specifically, the survey asked the following questions: How do they manage their disease day-to-day? What is their treatment burden? What trade-offs do patients and families make? Where do they get the information they need? According to the report, “these are the questions that will help us ensure that the programs and supports that are most needed are understood.”
Responses showed that a top priority of patients and caregivers is access to affordable, specialized care. Half of the participants said that the cost of care represents a major challenge, while a third of them reported this as a minor concern.
In addition, 76% of participants said they had concerns about access to healthcare and/or a healthcare provider with experience in neuromuscular disease, saying it was important to ensure this type of specialized support from health providers.
“Roughly 1 in 3 (33%) report they have delayed seeking or receiving medical attention in the past year due to concerns around cost,” the survey reported, particularly among CMT patients (46%).
Nearly a third of the adult respondents (29%) reported not having any genetic testing to confirm their diagnosis although this was clearly an important parameter.
Factors that limited access to genetic testing included age — 38% of patients older than 50 said they had not received a genetic test — and cost, with nearly half of the participants reporting that the testing is expensive. A fraction of the respondents highlighted the need to explain the advantage and importance of genetic testing, because some patients and their families did not understand it.
While there appeared to be a great interest in participating in clinical trials, 76% of respondents had never participated in these types of studies. They reported the need for more information and access to trials. The major obstacle to participation was lack of knowledge on when clinical trials were open and recruiting. Participants, both patients and caregivers, with lower incomes and less education were less likely to participate in trials and more likely to feel less informed.
Of the participants, 64% identified loss of independence and mobility as their top concerns out of 60 different issues or situations presented that people living with neuromuscular disease and their families might face. Independence regarding mobility and the ability to walk and uncertainty about the future were two of the top-three concerns identified by both patients and caregivers.
Physical health issues — the ability to walk and have the energy to make it through the day — were reported as a major concern by 62% and 53% of the patients, respectively, while the cost of medical devices and equipment and access to home modifications were top worries for 62% and 56% of the caregivers.
The respondents were eager for information and identified MDA as their No. 1 resource for getting information about their disease, including for clinical trials, as well as specialized medical care and assistance with independent living.
These resources are especially important for the most vulnerable, under-served patient populations, who also reported a stronger desire to connect with other patients living with the same diseases.
“MDA is committed to transforming the lives of people with neuromuscular disease and we believe the ONEVoice study moves us one step closer to our objectives,” Lynn O’Connor Vos, MDA president and CEO, said in a press release. “We are in a position to facilitate this transformation, through MDA’s national network of multidisciplinary clinics providing best-in-class care at more than 150 of the nation’s top medical institutions, our multimillion-dollar commitment to research and programs to enrich patients’ lives.”