Tests GNT0004 gene therapy in boys with Duchenne muscular dystrophy
Tests a one-time gene therapy infusion in ambulant boys with Duchenne muscular dystrophy.
Plain-language title generated from the registry record
Registry title: A Clinical Study to Assess Safety, Efficacy and Pharmacodynamic Profile of GNT0004 in Duchenne Muscular Dystrophy
Key facts
- Where
- Esplugues de Llobregat and Valencia, SpainSee the 2 sites
- Phase
- Phase 2/3
Could this be for you?
Answer for yourself. This is not a decision: only the study team can say whether you can take part.
- Are you between 6 and 10 years old?
Source: NCT07856329, who can take part
Where in Spain
- Hospital Sant Joan De Deu BarcelonaEsplugues de Llobregat, SpainTaking people
- Hospital Universitario Y Politecnico La FeValencia, SpainTaking people
Questions to ask the study team
- How often do I need to come in, and for how long each time?
- Are travel costs paid?
- Can I keep my own doctor?
- What happens if I want to stop?
Trial details
- Who runs it
- Genethon
- Trial code
- NCT07856329EU 2023-505187-11-00
- Record updated
- 13 October 2026
- Original description
GNT0004 is a recombinant adeno-associated viral (AAV) vector gene therapy composed of an AAV8 serotype capsid containing a sequence-optimized gene for a human microdystrophin. Duchenne muscular dystrophy (DMD) is a neuromuscular disorder caused by dystrophin gene mutations leading to absence of functional dystrophin, a key protein that prevents muscle cell damage during physiological contractions. To address the underlying cause of the disease, GNT0004 delivers an optimized dystrophin gene that is capable to produce a shortened but functional dystrophin protein in target tissues (heart and skeletal muscles) in DMD subjects. It is expected to significantly delay or slow disease progression. GNT0004 will be given as a one-time intravenous (IV) infusion to help it reach muscles throughout the body.Read full original descriptionShow less
Microdystrophin (GNT0004) Gene Therapy Clinical Trial in Duchenne Muscular Dystrophy: A Phase I/II/III Study With a Dose Determination Part Followed by an Efficacy and Safety Evaluation, Quadruple Blind Placebo-controlled Part and Then by a Long-term Safety Follow up Part, in Ambulant Boys
GNT0004 is a recombinant adeno-associated viral (AAV) vector gene therapy composed of an AAV8 serotype capsid containing a sequence-optimized gene for a human microdystrophin. Duchenne muscular dystrophy (DMD) is a neuromuscular disorder caused by dystrophin gene mutations leading to absence of functional dystrophin, a key protein that prevents muscle cell damage during physiological contractions. To address the underlying cause of the disease, GNT0004 delivers an optimized dystrophin gene that is capable to produce a shortened but functional dystrophin protein in target tissues (heart and skeletal muscles) in DMD subjects. It is expected to significantly delay or slow disease progression. GNT0004 will be given as a one-time intravenous (IV) infusion to help it reach muscles throughout the body.
Inclusion: Ambulant male; Being included in the GNT-014-MDYF study; 6 to 10 years (inclusive); For participants enrolled in Part 1: BMI scale ≤ 75th percentile. For participants enrolled in Part 2: Body weight ≤ 95th percentile of the BMI or body weight scale; Positive genetic testing with detailed genotyping confirmation of DMD; Able to achieve a score in the North Star Ambulatory Assessment (NSAA) scale ≥ 18 at the screening visit; Stable or descending evolution in the NSAA total score during the last assessment periods recorded in study GNT-014-MDYF; Gowers test (Time to Rise From Floor) ≤ 7 sec; Ongoing corticosteroid therapy according to standard of care: for at least 6 months before the screening; Up to date vaccination record; Willing and able to comply with all protocol requirements and procedures; Signed informed consents and assent as required by local law; Affiliated/beneficiary of an insurance health care scheme or National Health service (if required by local law).
Exclusion: Presence of neutralizing antibodies against AAV8; Any co-morbidity (ies) and/or previous or planned surgical event(s), which may interfere with DMD evolution /or evaluation of patient's safety or Investigational Medicinal Product (IMP)'s tolerability; Nuclear Magnetic Resonance Imaging (MRI) contraindications: metal implants, or other contraindication for MRI such as severe phobia; Previous inclusion to another clinical trial with any non-gene therapy related; Previously treated with any drugs that may interfere with either natural diasease course and/or IMP evaluation (except for corticosteroid therapy), the last dose administration less than protocol defined washout period; Received any of the treatment designed to increase dystrophin expression (e.g., exon skipping or stop codon read-through agents for DMD) within protocol defined period prior to screening; Previous gene therapy for DMD; Cardiomyopathy based on physical/cardiological examination and echocardiography (or cardiac MRI if available); Acute infection that is not expected to be fully resolved for a sufficient time before gene therapy administration; Chronic hepatitis B or C, i.e., positive hepatitis B surface antigen or hepatitis C RNA viral load positive; Clinically significant laboratory abnormality values as per protocol; DMD patients with any mutations affecting: exons 1 through 17, for Part 1 participants; affecting exons 8 and/or 9 for Part 2 participants; Any respiratory assistance needed including non-invasive daytime or nocturnal ventilation; Inability to perform the planned respiratory functions tests; Inability to cooperate with muscle strength and functional assessments; Unwilling and/or unable to comply with all the study protocol requirements and/or procedures.