Genethon announces First Patient dosed in Clinical Trial

Genethon announces First Patient dosed in Clinical Trial of Investigational Gene therapy GNT004 for Duchenne Muscular Dystrophy.

Communiqué de presse original > Genethon


A first participant was dosed at I-Motion, the pediatric clinical trial platform for neuromuscular diseases located at Trousseau hospital in Paris, as part of the gene therapy trial in Duchenne muscular dystrophy (DMD) conducted by Genethon.

A young boy with Duchenne muscular dystrophy received a first dose of the investigational gene therapy GNT004. He was the first patient in an international phase I/II/III multicenter trial for which Genethon is the sponsor. The trial has been approved in France by the French National Agency for Medicines and Health Products Safety (ANSM) and in the UK by British Medicines & Healthcare products Regulatory Agency.


CEO Frédéric Revah – “Dosing this first patient is a step that is profoundly symbolic for Genethon. This trial is the culmination of 30 years of pioneering research by Genethon. It embodies the quality of the research conducted in our laboratories, in collaboration with high-performing international teams. Duchenne is a very challenging disease and while we are cautious, we are hopeful and proud that the technologies developed at Genethon are today becoming drug candidates that could change the future for patients suffering from Duchenne muscular dystrophy.”


Prof. Muntoni from the Dubowitz Neuromuscular Center (UCL Great Ormond Street Institute of Child Health & Great Ormond Street Hospital (London, UK)), the principal investigator for the trial. – “There remains a tremendous unmet need for treatments to help individuals affected by DMD. We put high hopes in this novel candidate.”


About GNT004

The gene therapy (GNT 0004) is based on an adeno-associated virus (AAV) capsid and an optimized gene, a shortened version of the gene coding for dystrophin, the absent protein in patients with Duchenne muscular dystrophy. This micro-dystrophin, associated with a vector designed to be expressed in muscle tissues, was developed by Genethon in partnership with the teams of Prof. Dickson (University of London, Royal Holloway) and the Institute of Myology (Paris). It is now developed jointly in the clinical phase with Sarepta Therapeutics. In the video, Professor George Dickson answers our questions about gene therapy & exon-skipping drugs.


About the trial

This phase I/II/III gene therapy trial is a multicenter dose determination trial, followed by the randomized efficacy part of the trial, to assess the product’s efficacy versus placebo. After the one year following the treatment with a placebo, the crossover is planned to allow all participants to benefit from the treatment potentially. The trial uses a single intravenous injection of GNT 0004. The trial aims to enroll boys aged 6 to 10 suffering from Duchenne muscular dystrophy who can still walk. The trial was approved in France, in the UK, and submissions are ongoing in the USA and Israel. The main criterion for evaluating efficacy is the change on the North Star Ambulatory Assessment (NSAA) score at one year. The NSAA is a validated 17-item rating scale used to measure functional motor abilities in ambulant children.


About Généthon

Genethon was created in 1990 by the AFM-Telethon with donations from the first Telethon. The stakes at that stage were huge: deciphering the human genome, tracking down the genes responsible for genetic diseases and using this knowledge to make innovative drugs. Thirty years later, the first gene therapy drug, to which Genethon contributed, has obtained marketing authorization in the United States, Europe and Japan for spinal muscular atrophy. Also, 10 products resulting from Genethon research and developed alone or in collaboration are today in clinical trials for rare diseases involving eyesight, the liver, blood, the immune system and the muscles. A further 8 products are in the preparation phase for clinical trials over the next five years. Follow them on Twitter and LinkedIn.

Pamrevlumab for the treatment of DMD

FibroGen receives Fast Track designation from the U.S. FDA for Pamrevlumab to treat Duchenne muscular dystrophy (DMD).


FibroGen, Inc. announced that the U.S. Food and Drug Administration (FDA) had granted Fast Track designation for its anti-CTGF antibody, pamrevlumab, for the treatment of patients with Duchenne muscular dystrophy (DMD). This designation follows a review of Phase 2 clinical data from a single-arm trial in non-ambulatory patients with DMD. It represents recognition by the FDA that pamrevlumab has the potential to address an unmet medical need for this disease. Pamrevlumab is currently being evaluated in two Phase 3 trials for the treatment of DMD.


Mark Eisner, M.D, M.P.H, Chief Medical Officer, FibroGen – “Fast Track designation by the FDA for pamrevlumab in DMD underscores the high unmet medical need for patients suffering from this debilitating disease and potential to advance a new treatment option. We look forward to working closely with the FDA on the development of pamrevlumab as a potential therapy for DMD.”


About Fast Track designation

Fast Track designation is intended to facilitate the development and review of drugs used to treat serious conditions and fill an unmet medical need. Fast Track designation enables the company to have more frequent interactions with the FDA throughout the drug development process so that an approved product can reach the market expeditiously. Read more.

About Duchenne muscular dystrophy

Duchenne muscular dystrophy (DMD) is a rare and debilitating neuromuscular disease that affects approximately 1 in every 5,000 newborn boys. About 20,000 children are diagnosed with DMD globally each year. The fatal disease is caused by a genetic mutation leading to the absence or defect of dystrophin, a protein necessary for normal muscle function—the absence of dystrophin results in muscle weakness, muscle loss, fibrosis, and inflammation. Patients with DMD are often wheelchair users before the age of 12, and their progressive muscle weakness may lead to serious medical problems relating to respiratory and cardiac muscle. Learn more here.

About Pamrevlumab

Pamrevlumab is a first-in-class antibody developed by FibroGen that inhibits the activity of connective tissue growth factor (CTGF), an important biological mediator in fibrotic and proliferative disorders. Pamrevlumab is in Phase 3 clinical development for the treatment of locally advanced unresectable pancreatic cancer (LAPC), Duchenne muscular dystrophy (DMD), and idiopathic pulmonary fibrosis (IPF). For information about pamrevlumab studies currently recruiting patients, please visit www.clinicaltrials.gov.

About FibroGen

FibroGen, Inc. is a biopharmaceutical company committed to discovering, developing, and commercializing a first-in-class therapeutics pipeline. The Company applies its pioneering expertise in hypoxia-inducible factor (HIF) and connective tissue growth factor (CTGF) biology to advance innovative medicines to treat unmet needs. The Company is currently developing and commercializing roxadustat, an oral small-molecule inhibitor of HIF prolyl hydroxylase activity, for anemia associated with chronic kidney disease (CKD). Roxadustat is also in clinical development for anemia associated with myelodysplastic syndromes (MDS) and chemotherapy-induced anemia (CIA). Pamrevlumab, an anti-CTGF human monoclonal antibody, is in clinical development for the treatment of locally advanced unresectable pancreatic cancer (LAPC), Duchenne muscular dystrophy (DMD), and idiopathic pulmonary fibrosis (IPF). For more information, please visit www.fibrogen.com.