New Medicines

Duchenne muscular dystrophy


New molecular entity
Sarepta Therapeutics
Sarepta Therapeutics

Development and Regulatory status

Phase III Clinical Trials
Phase III Clinical Trials
Phase III Clinical Trials
Mar 22Has orphan drug status in EU (EU/3/14/1381) [3].
Jan 20Production of clinical batches and, eventually, commercial batches of GNT 0004, based on innovative suspension-based production methods, has been entrusted to YposKesi, one of the largest European sites for GMP vector production, with 160 bio-production experts and a dedicated site of 5,000 m² [4].
Jan 20Genethon and Sarepta Therapeutics start a co-development clinical program for GNT 0004. Under the terms of the licensing agreement, Genethon will be responsible for commercialising GNT 0004 in Europe (excluding the UK) and Sarepta will be responsible in the rest of the world [4].


An in vivo gene therapy that uses an AAV-8 (adeno associated virus) vector carrying the transgene coding for a shortened but functional form of dystrophin (micro-dystrophin, MD1)
DMD affects about 1 in 3,500 newborn males [1].
Duchenne muscular dystrophy
Intravenous infusion

Trial or other data

Mar 22According to the EU trials registry, PI/II/III RevruiThe trial , is ongoing although no announcement to this effect has been made by Genethon [3,4].
Dec 21Natural history study (NCT03882827) is recruiting [2].
Aug 21Genethon suspends recruitment in the PI/II/III trial of GNT 0004 (RecruiThe; 2020-002093-27) due to a serious adverse event that occurred in a patient. Investigations are underway to understand the origin of this event, its possible link with the treatment or with another cause. The patient, who was dosed with the gene therapy product in March 2021, showed a serious adverse event in late April. He was hospitalised and was released after his condition improved. He continues to be evaluated. After all results of ongoing investigations are available, Genethon will share the data with the Data Monitoring Committee (DMC), and will propose an appropriate protocol if necessary. The trial can only be resumed once the relevant health authorities have approved these amendments.. The natural history study is maintained: the included patients continue to have regular appointments in their investigative centers and new patients may be included [4].
Apr 21First patient dosed in a PI/II/III trial of GNT 0004 (2020-002093-27). It will enrol 51 boys aged 6 to 10 years in the UK, France, US an Israel. This is a multicentre dose determination trial, followed by the randomised efficacy part of the trial, to assess the efficacy versus placebo. The cross-over is planned after the one year following the treatment with placebo in order to allow all participants to potentially benefit from the treatment. The trial uses a single intravenous infusion of GNT 0004. Primary outcome is change on the North Star Ambulatory Assessment (NSAA) score at one year. The NSAA is a validated 17-item rating scale that is used to measure functional motor abilities in ambulant children [3,4].
Dec 19An observational natural history study to collect data on the natural disease course of DMD in a cohort of young male subjects aged from 5 to 9 years over a period of 6 to 36 months using disease appropriate evaluations starts (NCT03882827). An additional objective is to record a baseline period prior to the setup of an AAV gene therapy dose escalation PI/II first in man clinical study. 100 participants will be recruited in France and the UK (Great Ormond Street Hospital & University College London Hospital, London, and the Institute of Genetic Medicine, Newcastle). The study is due to complete Jun 23 [2].