Led by Principal Investigator Leslie Delfiner, MD, Co-Director of the Muscular Dystrophy Association (MDA) Care Center, Montefiore Einstein is spearheading the EVOLVE study, a multicenter, prospective, observational Phase 4 clinical trial evaluating the long-term safety and effectiveness of three exon-skipping antisense oligonucleotide (ASO) therapies—eteplirsen, golodirsen and casimersen—in patients with Duchenne muscular dystrophy (DMD) who are receiving these treatments in routine clinical practice. The study is designed to collect both medical history and prospective outcome data from participants treated with these phosphorodiamidate morpholino oligomers (PMOs) as part of standard care. Unlike interventional trials, EVOLVE follows patients who have already been prescribed these mutation-specific therapies commercially, providing real-world insights into treatment durability, functional outcomes, PMO treatment patterns and safety over time. 

Duchenne muscular dystrophy is the most common hereditary neuromuscular disease and one of the most severe forms of inherited muscular dystrophy. It has a poor prognosis and no current cure, and it is characterized by progressive muscle degeneration and weakness that ultimately lead to loss of ambulation, reliance on wheelchairs and significant orthopedic and cardiopulmonary complications.

The study’s long-term, real-world data collection may help clinicians better understand how PMO therapies influence disease progression, functional milestones and long-term patient outcomes. This work may also refine treatment expectations, inform clinical decision-making and support advancements in care pathways for individuals living with DMD.

While exon-skipping therapies have expanded treatment options for select patients with DMD, there remains a critical need to understand how these therapies perform across diverse clinical settings and over extended periods. EVOLVE, reportedly the first and largest registry of patients treated with PMO therapy to date, aims to generate meaningful evidence that reflects routine clinical practice. 

We’re ranked in the top 1% of all hospitals in the nation for neurology and neurosurgery, according to U.S. News & World Report, and we are an international referral site for the most complex cases.

If you are interested in learning more about the EVOLVE study or enrolling a patient, please call 1-800-MD-MONTE (800-636-6683).

ClinicalTrials.gov ID: NCT06606340