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Clinical Development

Patient-Focused Clinical Trial Design for Rare Diseases – Part 2

  • July 11, 2018
Tulip in a field of daisies

This post is the second of a two part blog series on rare disease and orphan indication drug development. Click here to read Part 1. Or click here to access the full webinar.

In our previous post, we discussed how patient-focused clinical trial design and collaborative approaches to site enrollment can accelerate rare disease clinical research. Yet, as our presenters emphasized in the presentation, the only way to ensure that trials are being conducted in a truly-patient focused way is to hear directly from rare disease patients and their families. In this post we summarize the insights from Beth Woelfel Harvey, a parent of a child with Duchenne muscular dystrophy (DMD).  Her experiences help highlight what worked – and what did not – in the clinical trials they enrolled in, allowing her to provide clinical researchers with valuable feedback and offer advice to other patients in the rare disease community.

Rare Disease Patient Experiences in Clinical Trials

Over the last decade, rare disease research has grown tremendously. In 2009, when Beth’s son JB was initially diagnosed, there were no standards of care for Duchenne muscular dystrophy.  There were only three small clinical trials. Now, in 2018, there are over 30 clinical trials and over 40 companies working on Duchenne drug development. The improved standards of care are thankfully increasing the life expectancy of patients with this disease.

But the availability of more trials means patients and their families face tough decisions when it comes to deciding which study they should pursue. In the webinar, Beth shared a few questions that run through her head when she considers enrolling JB in a study:

  • What trial does my child qualify for?
  • What are the exclusion criteria?
  • What is the goal of this treatment?
  • Is a muscle biopsy necessary?
  • Can my child do multiple MRIs?
  • Can I afford the time off work to participate?
  • How will this affect my family?
  • Is it all worth it?

Additionally, the genetic basis of rare diseases like Duchenne only serve to complicate matters further. For example, while nearly all cases of DMD are caused by mutations in the DMD gene (which encodes the dystrophin protein) over 200 individual disease-causing mutations have been identified. This means that most disease-modifying treatments in development target only one, or a small subset, of the total number of known DMD mutations, limiting the number of patients eligible to participate in those drug studies.

Of the trials JB was eligible to enroll in, Beth relied on advice from physicians, clinical care centers, fellow parents and participation registries when making the difficult decision of whether or not to participate. But she stresses that patient well-being needs to be a priority when it comes to clinical trials, particularly when they involve children. That could include check-ins with social workers during visits and the inclusion of child life specialists to keep people entertained and happy.

While it’s still a challenge, there is a positive outlook on the future of rare disease research. CRO’s and sites are making trials easier by shifting more focus on the patient’s quality of life. Patients and their families are being heard. Clinical trials for many rare diseases, including Duchenne, will continue to increase and, according to Beth, families are extremely grateful for all the work that is being done to get solid, scientific outcomes while considering the needs of the patients.