Solving the Transition Conundrum as More Children With Muscular Dystrophy Live to Adulthood

As gene therapies transform the care of muscular dystrophy, more and more patients are surviving with these diseases that used to kill patients before they reached adulthood. This influx of adults into the care delivery system is a great “problem” to have, but it requires an overhaul of the care transition process, and learnings from other disease states can help illuminate the way, according to speakers at the 2025 Muscular Dystrophy Association (MDA) Clinical & Scientific Conference in Dallas, Texas.

Session chair Diana Castro, MD, the founder of the Neurology & Neuromuscular Care Center in Denton, Texas, knows these challenges firsthand. Patients with spinal muscular atrophy, for instance, are now living into their 20s, but they are aging into a system that lacks appropriate staffing and specialists to care for their complex disease needs, let alone the immense psychological and social support that they require. There’s also a lack of communication between systems, so even if a patient can find an appointment with a specialist, that specialist may not know their history or why the patient needs to see them.

Because the therapeutic advances that enable children with muscular dystrophies to live longer are relatively new, the field can look to other diseases for examples of smoothing the transition from pediatric to adult care. | Image Credit: © Михаил Решетников - stock.adobe.com

All this fragmentation and lack of access, Castro said, created the need for her clinic. Her patients are often those who were lost in the cracks of transition until they reached the clinic, where Castro and her colleagues “want to close the gap between transition, transfer from pediatric to adult care, and provide more comprehensive care.”

Because the therapeutic advances that enable children with muscular dystrophies to live longer are relatively new, the field can look to other diseases for examples of smoothing the transition from pediatric to adult care. For instance, pediatric congenital heart disease (CHD) has had life-extending therapies since the 1970s that have brought survival gains but also the same challenges being experienced now in neuromuscular disease care, said Kan Hor, MD, a pediatric cardiologist at Nationwide Children’s Hospital in Columbus, Ohio. As children aged into a system ill equipped to care for their needs, they were lost to follow-up, with many reentering the care system at a worse disease stage after the opportunity to prevent disease progression had passed.

“Whether you’re rural, in the city, insurance or no insurance, there needs to be better, equal access for patients,” Hor said. The avenues for achieving this access are multiple, but they include increasing the funding for clinician training programs, applying lessons from learning networks, and ensuring that detailed transition plans are in place for each patient. At his institution, transition discussions with patients start at age 14, so that by 18 they are ready to see the adult CHD team at the Ohio State University care system, which encompasses Nationwide Children’s Hospital.

To apply these lessons to neuromuscular disease care, Hor said, will “take more than a village.” It will take the patient voice being heard about the current gaps in care, as well as advocacy organizations to build bridges between clinicians, industry, and government. Clinical programs will need to develop more trainees to care for these patients; industry partners must make therapies available in a cost-effective way across age groups; and the government must fund and create these opportunities.

Calls for advocacy by organizations like MDA could leverage existing guidelines like the consensus statement on health care transitions for young adults with special health care needs issued by several leading pediatric professional societies.1 This includes the principles that “the same standard of care that they receive in pediatrics should be the same in adults, and they ensure affordable, comprehensive health insurance throughout the lifetime,” Hor said.

Another example of a disease seeing huge gains in survival and clinical outcomes but subsequently struggling with care transition is cystic fibrosis, according to Oscar “Hank” Mayer, MD, pulmonologist at the Children’s Hospital of Philadelphia (CHOP). The rich pipeline of medications being developed and approved has led to an inversion in the demographics of the disease, so now the adults with it outnumber the children,2 and the field has had to adapt to keep up. In recent years, more patients are being seen by pharmacists and mental health coordinators, which is essential given that “there can be quite a bit of stress, both on the patients and then on the families,” from living with a chronic disease.

He also stressed the importance of advocacy organizations in driving necessary change. For instance, the Cystic Fibrosis Foundation was instrumental in spurring the growth of adult cystic fibrosis programs by funding transition coordinators, establishing mentoring programs, and requiring the presence of a transition program to maintain funding.

Similar to Hor’s example, CHOP has a close relationship with the affiliated Penn Medicine team for adult care, so the teams have established a partnership with a monthly meeting to talk about children who are ready for transition and review feedback from patients who’ve transitioned—both success and challenges. To ensure institutional support for this infrastructure, which also must include care protocols and appropriate equipment, Mayer suggested making the case to health system leadership that better transitions of care can improve quality of care and maximize acute care capacity.

“Optimized multidisciplinary care is critical, and this involves an approach that spans both pediatric and adult care,” Mayer concluded. “Doing this in a thoughtful way is absolutely mandatory for having an effective transition process.”

When the floor opened for comments, patient advocate Mindy Cameron offered her perspective as a parent of a 23-year-old with Duchenne muscular dystrophy. Considering the array of insurance sources and waivers in the US, care transition planning needs to “make sure that the adult providers know how these kids are covered, what they need at home, what kinds of programs they might be eligible for, so we can start getting them home health care, respite care, all these things that make independence possible for kids with severe disabilities.”

The panelists agreed that knowledge, training, and education will be key to smoothing the care transition process. “You can have all the therapies you want, but if you don’t have the [providers] to take care of this population, it doesn’t matter, because they don't know what to do with it, and the patient just sits with no way out,” Hor said.

References

1. American Academy of Pediatrics; American Academy of Family Physicians; American College of Physicians-American Society of Internal Medicine. A consensus statement on health care transitions for young adults with special health care needs. Pediatrics. 2002;110(6, pt 2):1304-1306.

2. 2023 Patient Registry Annual Data Report. Cystic Fibrosis Foundation; 2024. Accessed March 17, 2025. https://www.cff.org/media/34491/download