Life Sciences

Rare Disease Day: Emmes Endpoints Solutions Submits Duchenne Video Assessment Qualification Plan to FDA

Emmes Endpoints Solutions* has submitted its Duchenne Video Assessment (DVA) qualification plan to the U.S. Food and Drug Administration (FDA) Center for Drug Evaluation and Research (CDER) for review. Currently, there are no clinical outcome assessments qualified for use in the Duchenne muscular dystrophy (DMD) population, and the DVA has the potential to expand patient access to clinical trials by eliminating the need to travel to clinical sites and including movement tasks that can be assigned to participants at any stage of their disease.

The submission of the qualification plan – announced ahead of Rare Diseases Day – is the first for both for Duchenne and the use of video assessments as a primary endpoint. DVA assesses the progression and severity of DMD using videos of patients performing functional tasks that are meaningful to patients and their caregivers captured in the home environment. Videos are recorded at prescribed timepoints and are scored by certified central raters using pre-specified scorecards, allowing blinding to both treatment arm and assessment timepoint. The DVA’s innovative approach to measuring function through compensatory strategies differentiates it from other anecdotal video capture methods. It enables Sponsors to measure incremental changes in the patient’s condition that were missed by currently used assessments and allows for a more meaningful evaluation of function.

Currently, there are very few approved therapies specifically for people with DMD and only a small portion of the DMD population is presently served by these.

Emmes will receive initial feedback from the FDA by July 2024 on the data submitted, with further data to be collected and analysed over next two years.

If successful, not only will sponsors more easily be able to use the DVA in clinical trials, but more generally the application of home-based video assessments as primary endpoints in trials could have far-reaching applicability in other rare diseases. These include other neuromuscular and neurodevelopmental disorders, and even trials exploring areas like ALS – in fact, any area where real-world effectiveness in home settings could potentially be considered and quantified.

Evaluating patients at home, in their real-world environments, is conducive to decentralizing clinical trials and can help remove some of the biases inherent to the way trials are currently conducted. It can also reduce many of the logistical challenges patients face during trials – challenges that are often a large disincentive to enrollment and a key factor in participant retention and adherence to study protocols. Importantly, the DVA will show the impact of treatments where they matter most—in the daily lives of patients.

“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.  The measurement tool is unique in that it gives clinical trials a window into the way patients are functioning typically in their home environment and picks up on the changes that caregivers notice at home that are often missed by measures in clinic.  This novel approach of assessing patient function in a rigorous and standardized way in the home environment can and is being adapted to other disease areas to overcome many of the methodological challenges that rare disease clinical trials face,” commented Marielle Contesse, PhD at Emmes Endpoint Solutions.

Measuring treatment effect in rare disease populations presents many methodological challenges due to small sample sizes and heterogeneity of the study population.  Negative or ambiguous results from clinical trials may leave regulators and clinical trial participants and families wondering whether the failure was due to the drug’s lack of efficacy or to methodological flaws. 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.

* part of the Emmes Group that develops novel outcome measures for decentralized and hybrid trials by engaging patient communities