The medical community has been aware for some time now that patient involvement in his or her treatment is a critical part of therapeutic development. Biopharmaceutical companies acknowledge their obligation to have a more in-depth understanding of the way disease will impact patients and their families.

According to a recent article in Clinical Therapeutics, Wave Life Sciences (Wave) went ahead and initiated that connection with parents of children diagnosed with Duchenne muscular dystrophy (DMD). The Clinical Therapeutics report is available here.

About DMD

The symptoms of DMD are atrophy (loss) of the heart and skeletal muscle. Earlier signs of the disease include a delay in the child’s ability to stand, sit, or walk, or even delayed speech. DMD is a genetic disease caused by changes in the DMD gene.

DMD usually occurs in males, and most are using a wheelchair in their teens. At about the same time the teens begin to have breathing and heart problems. Additional information about DMD is available here.

The Community-advisor Program

Wave set up a community-advisor program with families  (collectively known as Advisors) of DMD patients so that they have the opportunity to share personal experiences while also offering possible solutions to unmet needs.

Three meetings attended by community-advisors were held. Thirty parents representing thirty-six children who are living with DMD attended the meetings. The clear message that was set forth by the advisors was:

• the need for mental and emotional support
• the lack of continuance in DMD care
• the challenges that are continually faced by sparsely equipped communities
• the critical need for new and comprehensive approaches in the management and treatment of DMD.

The meetings were considered to be an opportunity for the advisors (parents and caregivers) to not only communicate with the biopharmaceutical companies, but it was also an opportunity to meet other families living with the same everyday challenges and to brainstorm possible solutions to those challenges. For most of the attendees, it was their first such meeting.

The Wave administration made it clear that their physicians’ and researchers’ understanding of each family’s experience will play a vital role in the development of new programs, therapies, and services.

 The parties involved in the process, biopharmaceutical companies, regulatory agencies, health care providers, and payers (collectively the stakeholders) all value the perspective of caregivers and patients.

This is especially true in situations involving rare diseases where there are very few physicians with expertise in the disease. In the case of a rare disease, caregivers find themselves forced to be the “experts” but this, in turn, gives them an understanding that stakeholders lack.

The Role of the FDA

The FDA is in support of patient-centered care through its Patient-Focused Drug Development program. The program’s goal is to incorporate the patient’s views early in the therapeutic process and clearly set forth any decisions in connection with trial design and risk assessments.

The FDA goes a step further with respect to caregivers and patients by seeking their perspective for a new study conducted by the Parent Project Muscular Dystrophy organization. This group is preparing the first patient advocacy draft on the development of DMD therapies.

Widespread Agreement

And yet, even with universal agreement that patients offer valuable input, there seems to be little agreement on how to effectively include a patient’s perspective into the clinical process.

How the Wave Meetings Evolved

Three community-advisor sessions were planned. The attendees included DMD patients, their families, and various members of Wave Life Sciences, a biopharmaceutical company based in Cambridge, Massachusetts.

Also invited and planning to participate were members of patient-advocacy organizations and the DMD community. All meeting attendees live in the U.S and intended to express their own experiences with DMD. Participants were asked if they were interested in being an advisor at one of the meetings.

In accordance with the goal of the meetings, participants shared experiences and told of their struggles living with DMD. The attendees formed teams and were encouraged to create storyboards with phrases, symbols, and imagery that deeply communicates their feelings, experiences, and challenges.

About the Results of the Meetings

The three one-day meetings were held in three cities and were attended by parents representing thirty-six children aged four to twenty-two. The participants were from thirteen states across the U.S. The meetings were held over a three-month period in 2019.

It is true that each family’s experience was unique, yet there were definite similarities that brought forth challenges and opportunities.

• Narrow eligibility requirements for entry into clinical trials were described as extremely disappointing
• Families who were eligible for current trials claimed that they only learned after the fact that entry into one trial precluded them from entering a future trial
• Families claimed that the description of ongoing research was incomplete, inconsistent, or exclusively for clinicians
• Families reported inconsistencies and delay in time to diagnosis plus lack of empathy or compassion in the delivery of the diagnosis of DMD
• Other challenges included a lack of necessary equipment and services, as well as difficulty in obtaining insurance coverage

On a positive note, the families were grateful for the opportunity to attend the meetings. They reported that they enjoyed their time with other families, expressed their feeling of empowerment, and brought home special memories.