The Duchenne Registry

Helping families cope with the most severe form of muscular dystrophy

Parent Project Muscular Dystrophy

The most common form of pediatric-onset muscular dystrophy, Duchenne is also the most severe. The symptoms of this genetic disorder manifest themselves around the age of two, and then grow progressively worse. Affected children (mostly boys) experience clumsiness and muscle weakness, and by the age of 12 are usually unable to walk independently. In the latter stages of the disease, symptoms become pronounced in the upper body (ultimately resulting in an inability to use the hands), and people with Duchenne generally die by their mid-thirties.

Duchenne is simultaneously rare—only about one in 7,000 male births—and difficult to treat. Right now, there are only two approved drugs, neither of which cures or dramatically changes the condition.

For parents, a diagnosis of Duchenne, with its prognosis and limited treatment options, can be devastating. We have partnered with Parent Project Muscular Dystrophy (PPMD), supported by the Patient Centered Outcomes Research Institute, to support and expand the Duchenne Registry. This is a self-report registry in which registrants (parents of children with Duchenne and adults with Duchenne) can enter personal data about the progress of this disease and seek out the most promising research studies and clinical trials.

Helping Connect Duchenne Families with Clinical Trials

As of 2018, the Duchenne Registry contained information from more than 4,000 families, corresponding to approximately 25 percent of all the people in the U.S. diagnosed with Duchenne. This makes the registry an ideal resource for sponsors seeking to recruit patients for clinical trials; in fact, more than 80 percent of proposed and ongoing Duchenne DM clinical trials recruit (at least in part) via this resource.

One of the main services we provide with the Duchenne Registry is helping parents decide which clinical trials (if any) to enroll in. Choosing the right trial for Duchenne is a high-stakes decision, especially given the progressive nature of the disorder. The fact is that a large majority of clinical trials fail, and if a parent enrolls their child in the “wrong” trial, that child may age out of the cohort being recruited for other trials. To this end, the registry provides several useful tools, including:

  • Information sheets pertaining to each proposed clinical trial
  • A video library to educate registrants on a wide range of clinical trial topics
  • A decision-support tool to help parents and adults engage in shared decision making with clinicians and researchers
  • Access to consultations from genetic counselors.

Communicating the Needs of Duchenne Families to the FDA

The Duchenne Registry also serves as a valuable resource to inform the U.S. Food and Drug Administration (FDA) about the preferences and needs of families. When the FDA evaluates the results of clinical trials, reviewers use a matrix that determines whether the benefits of a proposed drug or treatment outweighs its risks. The trouble is that the people who evaluate clinical trials don’t see matters from the perspective of a person with Duchenne or a Duchenne parent; a straight up-or-down risk/benefit evaluation fails to capture the nuances of living with this incurable, progressive disease.

For example, a drug that has what many would consider to be a minimal or moderate benefit might be highly valued by people with Duchenne or their parents, if it maintains their ability to do important activities of daily living on their own. By the same token, a drug that has an unappealing risk profile might be acceptable to some families and people with Duchenne, given the severity and progressive nature of this disease.  

In the course of our project, we have partnered with PPMD and the Duchenne Registry, educated the Duchenne community about preference research, and conducted stakeholder-engaged preference studies to help ensure that the FDA makes decisions that are informed by the unmet needs, preferences, and priorities of patients and their families. And in this way, we help to facilitate the development of new drugs, and new treatments, for this formidable disease.