Clinical Trials

Date: 2014-11-12

Type of information: Treatment of the first patient

phase: 2

Announcement: treatment of the first patient

Company: Sarepta Therapeutics (USA - MA)

Product: eterplirsen

Action mechanism:

antisense oligonucleotide. Eteplirsen is designed to address the underlying cause of DMD by enabling the production of a functional dystrophin protein. Eteplirsen uses Sarepta\'s novel phosphorodiamidate morpholino oligomer (PMO)-based chemistry and proprietary exon-skipping technology to skip exon 51 of the dystrophin gene enabling the repair of specific genetic mutations that affect approximately 13 percent of the total DMD population. By skipping exon 51, eteplirsen may restore the gene\'s ability to make a shorter, but still functional, form of dystrophin from messenger RNA, or mRNA. Promoting the synthesis of a truncated dystrophin protein is intended to stabilize or significantly slow the disease process and prolong and improve the quality of life for patients with DMD.

Disease: Duchenne Muscular Dystrophy

Therapeutic area: Genetic diseases - Neuromuscular diseases - Rare diseases

Country: USA

Trial details:

The primary objective of this study is to explore safety and tolerability of eteplirsen in patients with advanced stage Duchenne muscular dystrophy who are amenable to exon 51 skipping. The exploratory objectives are to evaluate the effect of eteplirsen on pulmonary function tests (PFTs) and other functional clinical measures. This is an open-label, multi-center, 96-week study to explore the safety and tolerability of eteplirsen injection in patients with advanced stage DMD with confirmed genetic mutations amenable to treatment by exon 51 skipping. Patients will be evaluated for inclusion during a Screening/Baseline period of up to 4 weeks. Eligible patients will receive once weekly intravenous (IV) infusions of 30 mg/kg eteplirsen for up to 96 weeks. An extension to the dosing period may be considered prior to the end of the 96-week planned dosing period. Safety will be regularly assessed throughout the study via the collection of adverse events (AEs), laboratory tests, electrocardiograms (ECGs), echocardiograms (ECHOs), vital signs, and physical examinations. Exploratory efficacy assessments, including PFTs, upper extremity testing, and other measurements of functional status, will occur at functional assessment visits every 12 weeks over the first year of treatment and approximately every 24 weeks over the second year of treatment. (NCT02286947)

Latest news:

• On November 12, 2014, Sarepta Therapeutics announced that it has initiated dosing in a clinical study of eteplirsen,in patients who are non-ambulant or who have advanced Duchenne Muscular Dystrophy and don\'t meet a minimum 6-minute walk test score at baseline. The open-label study, 4658-204 (Study 204), will include approximately 20 patients treated with eteplirsen who have genotypes amenable to exon 51 skipping and who meet other study inclusion criteria. The study will be conducted at several sites in the United States and is designed to evaluate the safety of eteplirsen in DMD patients over 96 weeks of dosing. Patients enrolled in the study will receive once weekly intravenous infusions of 30mg/kg of eteplirsen, and data will be collected across a number of safety parameters and secondary efficacy endpoints.