WVE-210201 for Duchenne Muscular Dystrophy Receives Orphan Drug, Rare Pediatric Disease Designation by FDA


The investigational drug is in development for treatment of Duchenne muscular dystrophy patients amenable to exon 51 skipping.

Dr  Michael Panzara

Michael Panzara, MD, MPH, Neurology Franchise Lead of Wave Life Sciences

Michael Panzara, MD, MPH

The FDA granted both orphan drug designation and rare pediatric disease designation for WVE-210201 for treatment of Duchenne muscular dystrophy (DMD), according to Wave Life Sciences.

WVE-210201 is currently being studied in an ongoing, global, multicenter, double-blind, placebo-controlled phase I clinical trial, which is designed to evaluate the safety, tolerability and plasma concentrations of single ascending doses administered intravenously in 5—18-year-old patients with gene mutations amenable to exon 51 skipping versus placebo.

“Our team is motivated by a sense of urgency and compassion for the patients, families and caregivers affected by Duchenne muscular dystrophy and other serious, life-threatening conditions with high areas of unmet need,” Michael Panzara, MD, MPH, neurology franchise lead, Wave Life Sciences, said in a statement. “We are very pleased to receive these 2 important designations from the FDA and believe they further reinforce the potential of WVE-210201 to help boys suffering from DMD.”

The phase I trial is expected to enroll up to 40 ambulatory and non-ambulatory male patients. Once completing the phase I trial, patients have the option to enroll in an ongoing open-label extension study where they receive continued treatment with WVE-210201.

The primary outcome measures include the number of patients with adverse effects, severity of adverse effects, number of patients with serious adverse effects, and the number of patients who withdraw due to adverse effects. Primary outcomes are measured from baseline to day 85. Secondary outcome measures include the maximum observed concentration (Cmax), time of occurrence of Cmax, and area under the plasma concentration-time curve.

The phase I inclusion criteria includes a diagnosis of DMD based on a clinical phenotype with increased serum creatine kinase, documented mutation in the dystrophin gene that’s amenable to exon 51 skipping, ambulatory or non-ambulatory male patients ≥5—≤18 years old, and stable pulmonary and cardiac function measured by reproducible percent predicted forced vital capacity ≥50% and left ventricular ejection fraction >55% in patients <10 years of age and >45% in patients ≥10 years of age, measured by an echocardiogram 1 year prior to study enrollment.

Exclusion criteria included severe cardiomyopathy, the need for mechanical or non-invasive ventilation or anticipated need for mechanical or non-invasive ventilation within the next year, changes in nutritional or herbal supplements or concomitant medications within 1 month prior to screening or plans to modify dose or regiment throughout the study, currently on anticoagulants or antithrombotic, received treatment with eteplirsen or ataluren within the last 14 weeks, prior treatment with drisapersen, or received any investigational drug within the last 3 months or 5 half-lives, whichever is longer.

The study is conducted at the following locations: Stanford Neuroscience Health Center, Rare Disease Research, University of Kansas Medical Center, Hôpital Armand Trousseau, University Hospitals Bristol NHS Foundation Trust, and UCL Institute of Child Health and Great Ormond Street Hospital for Children.

WVE-210201 was developed utilizing proprietary technologies that enable the production of nucleic acid therapeutics where the stereochemistry at each phosphonothioate position is accurately controlled. The investigational stereopure oligonucleotide has been shown to induce skipping of exon 51 of dystrophin pre-mRNA.

Exon-skipping technology has the potential to induce cellular machinery to ‘skip over’ a specific exon, restoring the reading frame and resulting in the production of a functional, but internally shortened, dystrophin protein.

If the FDA grants market approval for WVE-210201 for treatment of DMD, Wave will have 7 years of market exclusivity in the US. In July 2018, the European Commission also granted orphan drug designation for WVE-210201.


Wave Life Sciences Receives US Orphan Drug and Rare Pediatric Disease Designations for WVE-210201 [news release]. Cambridge, Mass: Wave Life Sciences; August 16, 2018. https://ir.wavelifesciences.com/news-releases/news-release-details/wave-life-sciences-receives-us-orphan-drug-and-rare-pediatric

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