October 30, 2017

Male doctor examining patient

Duchenne Muscular Dystrophy (DMD) is a specific type of muscular dystrophy characterized by muscle weakness and deterioration. Scientists are conducting intense research across the globe to understand and hopefully treat this genetic disorder. DMD research comes with its fair share of challenges, especially with pediatric trials. There are ethical challenges, psychological challenges, pharmacometric challenges, economic challenges, recruitment challenges, and regulatory challenges. We’ll go into a few of these challenges and how Medpace is positioned to overcome them.

What is Duchenne Muscular Dystrophy (DMD)

The term dystrophinopathy is commonly used to describe a group of allelic disorders that share an underlying abnormality in the production or structure of dystrophin, a critical protein for striated muscle function. Within the spectrum of dystrophinopathy, DMD represents a typical prototype, and the most common clinical phenotype, affecting about 1 in 4,000 male births.

DMD is characterized by progressive proximal muscle weakness that starts in early childhood and continues relentlessly through early teenage years, causing severe disability and progressive cardiomyopathy. While DMD is associated with the absence of any detectable dystrophin, a milder form, Becker muscular dystrophy (BMD), is associated with a reduced amount or abnormal structure of dystrophin. Multiple mutations can lead to dystrophinopathy with deletions accounting for the majority of DMD cases.

Currently, there is no effective treatment for DMD and most later-stage investigational treatments are designed to treat specific mutations thereby only addressing a sub-population of patients affected by DMD.

Importance of Patient Advocacy Groups

Relationships with patient advocacy is important for any DMD study. Rare pediatric studies can be quite challenging from a recruitment standpoint. However, patients and families facing the life-threatening condition of DMD are very motivated to participate in research studies. It is expected that Investigators will know their DMD patients very well, and that they will be able to rather quickly determine potentially eligible patients at their center. It is important to be experienced in driving patient referrals from nonparticipating centers to further bolster enrollment. The DMD community is greatly supported by a network of parent advocacy organizations, which have a keen interest in DMD clinical trials. Connecting with these organizations continues to help to facilitate visibility of the studies and generate interest from both Investigators and families.

Regulatory Aspects of Pediatric Studies

It is important for a DMD study to have experienced board-certified pediatricians who are not only trained in clinical pediatrics, but also have experience designing, conducting, and managing pediatric trials. Pediatric trials have unique concerns raised by ethics committees, investigators, and parents. It is important to develop strategies to address these specialized needs. Regulators have certain expectations that need to be met. To meet these expectations, clinical researchers need to be familiar with the unique endpoints in DMD and be involved with sites, working closely with them to lower the risk of negotiations, deficiencies, and queries with ethics committees.

Medpace and DMD

Medpace can help with your challenges in conducting global studies in Duchenne Muscular Dystrophy (DMD). Medpace, a global CRO, is a leading partner of sponsors conducting DMD studies and has worked on seven phases 1-3 DMD studies in 28 countries. We recognize DMD studies are particularly challenging with regard to study design and endpoint selection. Medpace has a specialized team of experts to assist trials that utilize novel endpoints to ensure efficient study execution from study start up through completion of the clinical study report. Medpace has current expertise in advanced genetic therapies and the additional submissions that are required to ensure regulatory compliance. Medpace offers board certified pediatricians, regulatory experts, and clinical operations professionals skilled in DMD studies, and relationships with patient advocacy groups, ready to support studies to find a cure for these vulnerable patients.
To learn more about Medpace DMD capabilities, contact us.

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