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The Power of AI to Change the Rare Disease Paradigm


In 2016, Sarepta Therapeutics made headlines when its Exondys 51 (eteplirsen) became the first FDAapproved treatment for Duchenne muscular dystrophy (DMD) via the accelerated approval pathway (1). Affecting approximately 6 in 100,000 male babies born in the US annually, DMD is a rare, but debilitating, genetic disorder that causes muscle deterioration in early life, ultimately proving fatal. Exondys 51 treats an even smaller subset of the DMD population – about 13% with a specific gene mutation (2-3).

Due to the serious, life-threatening nature of DMD, the FDA based its decision on data from an uncontrolled trial with a sample of only 12 boys (4). Full approval remains contingent on results from a confirmatory study (MIS51ON) involving a sample of 144 patients that was initiated in mid- 2020 and isn’t expected to complete until 2026 – a full 10 years after the accelerated approval (5).

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About the Authors

Allison Tyler, BSN, RN, OCN, Clinical Application Specialist at Deep 6 AI has been a nurse for over 20 years, working in a variety of therapeutic areas, including the departments of Physical Medicine & Rehabilitation and Neonatal Intensive Care at the Mayo Clinic in Rochester, US, as well as over a decade as an Oncology Research Coordinator at the Cleveland Clinic in Cleveland, US. She has spoken at the national level on the topics of prostate and kidney cancer, has published journal articles, and co-authored a book chapter on the care of patients with advanced bladder cancer.

Wout Brusselaers founded Deep 6 AI in 2016 to improve clinical trial outcomes through AI-driven patient matching. Wout’s diverse career history includes Middle East diplomacy, consultancy in Asia, and roles in international intelligence and security. Now, he’s dedicated to creating innovative solutions that address the clinical research industry’s patient recruitment and retention challenges. Wout holds a Master's in International Economics from the University College Dublin, Ireland, an MFA in Film Production from Chapman University, US, and a Licentiate degree in Economics from Vrije Universiteit Brussel, Belguim.
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