Rare Disease Day: Emmes Endpoints Solutions submits Duchenne video assessment qualification plan to FDA

The company has officially submitted its Duchenne Video Assessment (DVA) qualification plan to the US Food and Drug Administration (FDA) Center for Drug Evaluation and Research (CDER) for thorough review. This submission marks a significant moment not only for Duchenne muscular dystrophy (DMD) research but also for the utilization of video assessments as primary endpoints in clinical trials.

At present, there is a notable absence of qualified clinical outcome assessments for implementation in the DMD population. The DVA, according to |Emmes, carries the potential to address this gap by revolutionizing the way clinical trials are conducted. By enabling assessments through video recordings of patients undertaking functional tasks in their home environment, the DVA eliminates the necessity for patients to travel to clinical sites. Moreover, it facilitates the inclusion of movement tasks that can be assigned to participants at any stage of their disease, thereby expanding patient access to crucial trials.

Marielle Contesse, a spokesperson from Emmes Endpoint Solutions, emphasized the significance of this initiative: "After too many clinical trial failures over the last several decades, the Duchenne community has been left with questions about whether drugs did not work or whether the outcome measures were not sensitive enough to detect changes in patient function. The DVA was conceived of and developed by caregivers of people with Duchenne with an aim of getting at the truth of whether drugs are working."

Extending to other rare diseases 

The inventive approach of the DVA lies in its ability to evaluate the progression and severity of DMD through videos captured in the home environment. These videos, recorded at specific intervals, are subsequently scored by certified central raters using predetermined scorecards. This methodology ensures blinding to both treatment arm and assessment timepoint, enhancing the reliability and validity of the data collected.

Crucially, the DVA's capacity to measure function through compensatory strategies sets it apart from other video capture methods. By detecting incremental changes in the patient's condition that may be overlooked by conventional assessments, the DVA offers a more comprehensive evaluation of function. Furthermore, the application of home-based video assessments as primary endpoints holds promise beyond DMD, extending to other rare diseases such as neuromuscular and neurodevelopmental disorders.

Emmes anticipates receiving initial feedback from the FDA by July 2024, with further data collection and analysis slated to occur over the subsequent two years. If successful, the qualification of the DVA could not only streamline its integration into clinical trials but also pave the way for broader adoption of home-based assessments across diverse disease areas.

Years of life devoted to clinical trials

"Measuring treatment effect in rare disease populations presents many methodological challenges due to small sample sizes and heterogeneity of the study population," Contesse said. "As participants and families devote years of their lives to clinical trial participation, it is crucial that any changes in function that patients experience are sensitively detected during a clinical trial."

In addition to enhancing the sensitivity of clinical trial outcomes, the adoption of home-based assessments holds the potential to decentralize trials and mitigate logistical challenges faced by participants. By evaluating patients in their real-world environments, researchers can obtain a more nuanced understanding of treatment efficacy and its impact on daily life—a crucial aspect often overlooked in traditional clinic-based assessments.

With the submission of its DVA qualification plan, Emmes Endpoints Solutions is not only driving innovation in rare disease research but also championing a paradigm shift in clinical trial methodologies. By harnessing the power of video assessments and embracing a patient-centric approach, the company endeavors to address longstanding challenges in drug development and improve outcomes for individuals living with rare diseases.