Muscular Dystrophy (MD) refers to a group of rare genetic conditions that cause progressive muscle weakness and degeneration in patients. Some forms of MD, such as Duchenne Muscular Dystrophy (DMD), can be life threatening to heart and respiratory functions.
But recent research found that among 3,661 U.S. patients with Muscular Dystrophy, only 33% of those with Duchenne and 12% of those with Becker Muscular Dystrophy – a similar but milder and later-onset MD condition – have previously participated in a clinical trial.
Many patients are simply unaware of clinical trials. And understandably, as Muscular Dystrophy patients face significant challenges requiring extensive rehabilitation and medical appointments, the demands of participation in clinical trials can simply be too overwhelming given how all-consuming the disease is for them and their families. Other hurdles include barriers to equitable access for diverse populations and ethnic minorities, and the overall challenges inherent in designing trials for a rare and progressive condition.
Barriers to Participation
There are several barriers that hold back patients and their caregivers from participating in clinical trials for Muscular Dystrophy.
- Lack of awareness of clinical trials
Despite the growing number of clinical trials, many adults remain unaware of their existence. A recent survey of over 3,500 U.S. adults found that 37.4% of White respondents were unaware of clinical trials, with even higher rates among Hispanic (51.8%) and Black adults (41.8%).
Patients look to their physicians as their primary and most trusted source of education about clinical trials. However, fewer than 0.2% of clinicians actually refer patients to relevant clinical trials.
This gap can be attributed to physicians and nurses having insufficient information about clinical trials, perpetuating a cycle of limited awareness for both patients and healthcare providers.
2) Financial and logistical burdens
Patients and their families are already burdened by demanding rehabilitation routines and regular medical appointments, which can take up a significant part of their daily lives. The additional demands of participation in a clinical trial, especially if travel is involved, can simply be untenable for these families.
Participants participating in Muscular Dystrophy trials can often face long hours of lab work, testing, and evaluations. This may make it more challenging for participants to enroll and has, at times, contributed to children in particular discontinuing their involvement in the trials.
Some families may also have difficulty participating in clinical trials due to financial challenges such as the costs of travel, accommodation, meals, lost wages, and insufficient or nonexistent insurance coverage. On top of that, expenses such as medical tests to qualify for the clinical trial, medication costs, or psychological care, are often not covered by trial sponsors either, placing an additional burden on participants and their families.
All of these costs compound the already exorbitant cost of living with MD – according to a survey of DMD patients in Germany, Italy, the United Kingdom, and the United States, patients pay an average of $20,000 before insurance for treatments like assistive devices, medication, and physical therapy. Furthermore, insurance may not cover all subsequent costs, leaving patients with significant out-of-pocket expenses. As the disease progresses, costs can rise to $300,000 annually, especially if respiratory support becomes needed.
3) Unequitable access for diverse populations
Accessibility to Muscular Dystrophy clinical trials is lower among diverse populations.
Muscular Dystrophy clinical trials often exclude non-English speaking participants due to lack of translated study materials or multilingual clinical evaluators. As a result, populations with low English proficiency are often unaware of ongoing trials in the first place.
Diverse populations are also less likely overall to trust health care systems. A study of Latino caregivers of children with Duchenne in the US found that some were apprehensive about participating due to concerns about their legal status, or because of previously negative experiences with navigating the healthcare system.
4) Difficulty in designing trials
Because Muscular Dystrophy is a degenerative condition, it is difficult to design trials that can meaningfully measure clinical outcomes across different stages of the disease. For example, infants and young boys with Duchenne Muscular Dystrophy show measurable deficits in motor functions within the first three years of life, which accelerate as they age. As such, a treatment that might work at one stage may not be effective or measurable at another, which complicates trial design. And as patients’ mobility and overall health deteriorates, travel, tests, and other requirements that were easier earlier in life may become more difficult.
Opportunities for Improvement
Despite these challenges, trial sponsors and physicians can implement strategies to improve patient participation.
- Increase accessibility
To reduce socioeconomic and cost-based barriers, physicians and trial sponsors can aim to increase the accessibility of future clinical study designs through the use of travel plans and telemedicine solutions.
Creating customized travel plans that suit the unique mobility and logistical constraints of the individual patient can better enable long-distance travel for them, their caregivers and their families. Cross-border clinical trials can also expand access to treatment by allowing patients from different countries to participate, especially those in regions with limited trial availability, providing a greater number of patients more opportunities to benefit from cutting-edge therapies and research.
Trials can also leverage telemedicine including AI-powered wearables that collect data digitally, or offer electronic check-ins, allowing patients to participate virtually. When paired with hybrid participation such as home visits or mobile research units, these technologies can reduce the burden of transportation and increase participation rates. Hybrid trials include deliveries of clinical supplies, shipment of collected specimens, and remote supervision.
- Counseling
Psychological implications are increasingly important to both parents and patients. To ease the emotional strain of clinical trials, particularly for children, trial sponsors can incorporate psychosocial screening and emotional counseling into trial protocols. This service should also provide age-appropriate educational materials regarding the trial for both children and adults prior to enrollment, as well as information and findings as the trial progresses.
Patient navigators can further support patients through this demanding journey by helping patients and caregivers understand trial protocols, manage appointments, and navigate logistical challenges. Offering emotional support and encouraging open communication between patients and healthcare teams will ultimately enrich the trial experience.
- Increasing awareness
Trial sponsors, supported by physicians, could offer foreign-language resources and translate clinical trial registries into different languages to increase trust and engagement among underrepresented patient demographics. Physicians and trial sponsors can also collaborate with dedicated advocacy organizations to spread awareness about clinical research opportunities within various sectors.
The Akari Foundation, for example, is a patient advocacy group that educates and empowers the Hispanic community about rare diseases (particularly DMD), and helps them with resources, awareness, advocacy and education – all entirely in Spanish. Other notable patient advocacy groups supporting patients with Muscular Dystrophy include the Muscular Dystrophy Association and Parent Project Muscular Dystrophy.
Awareness can also be addressed for patients, caregivers and physicians by the use of AI-powered global clinical trial search tools. Such tools search public clinical registries and provide an accurate summary of available clinical trials for patients – saving physicians time searching and providing patients with relevant actionable information.
- Inclusive study design
Trial sponsors and BioPharma should strive to design future Muscular Dystrophy trials that are optimized to account for the progressive nature of the disease.
The DMD Clinical Trial Simulation Tool is a platform which aims to address this need.
It uses models that track changes in physical abilities over time, such as a 10-meter walk or run test, a 4-stair climb, lung function (FVC), and overall mobility (NSAA score). These models account for factors like age, severity of the disease, and steroid use, helping researchers create trials that better represent the many iterations and stages of Muscular Dystrophy.
Trials Without Error
The future of clinical research for Muscular Dystrophy will continue to develop over time with the goal of improving the patients’ quality of life.
By addressing structural barriers and expanding awareness efforts, physicians, researchers, and trial sponsors can not only help boost participation in clinical trials and potentially advance the development and approval of new drugs, but also inspire accessibility efforts across the clinical trials landscape for patients with other rare diseases.
We can do more than merely hope for a cure – we can make structural changes that will help close the gap and advance health outcomes for patients with Muscular Dystrophy.
About Michel van Harten, MD
Michel van Harten, MD, is the visionary CEO at the helm of myTomorrows, driving the company towards a brighter future. Michel earned both his BSc in Economics and his Medical Degree at the University of Amsterdam. He worked as a physician at the Antoni van Leeuwenhoek Hospital, a specialized cancer hospital and research institute in the Department of Surgical Oncology. As a physician, with more than 15 years of experience in the healthcare and pharma industry, Michel possesses a deep understanding of the challenges that patients and healthcare providers face.
