This study is a single-center, single-arm, non-randomized, open-label, non-controlled, dose-escalation, prospective clinical trial designed to assess the safety, tolerability, and preliminary efficacy of JWK007 injection in pediatric patients with Duchenne Muscular Dystrophy (DMD).
DMD is a rare genetic disorder that primarily affects males. This disease is closely associated with mutations in the DMD gene located on the X chromosome. The DMD gene encodes a protein known as dystrophin, which plays a crucial role in providing essential structural and protective support within the muscles. Gene therapy drugs using Adeno-Associated Virus (AAV) as a vector hold the promise of offering a convenient, effective, and safe treatment option for DMD patients. Therefore, we have independently developed and designed the JWK007 injection. The study was originally designed as a '3+3' dose-escalation trial with two cohorts. However, due to recruitment difficulties at the higher dose level, only the low-dose cohort (N=3) will be enrolled. No further enrollment or dose escalation will be conducted, and all safety, tolerability, and preliminary efficacy endpoints will be assessed in this single low-dose cohort.
Study Type
INTERVENTIONAL
Allocation
NA
Purpose
TREATMENT
Masking
NONE
Enrollment
3
Each patient receives a single intravenous infusion of JWK007 at a dose of 1.0 × 10\^14 vg/kg.
West China Hospital, Sichuan University
Chengdu, Sichuan, China
adverse events
Adverse events defined as the number of participants with adverse events according CTCAE v5.0
Time frame: 5 years
North Star Ambulatory Assessment
North Star Ambulatory Assessment (NSAA) is a clinical tool used to assess the motor function and ambulatory capabilities of children and adolescents with neuromuscular disorders like Duchenne muscular dystrophy.
Time frame: 5 years
Six-Minute Walk Test
the distance the patient walked in six minutes
Time frame: 5 years
10-Meter Walk/Run Test
The time it takes to walk 100 meters
Time frame: 5 years
creatine kinase
Changes in circulating levels of CK
Time frame: 5 years
the expression of micro-dystrophin gene
Baseline muscle biopsies for dystrophin expression will be performed between -30 and -7 days prior to treatment in all subjects. All subjects will undergo a post-treatment biopsy on day 180. Micro-dystrophin gene expression was quantified (immunofluorescence and Western blot analysis) and compared before and after muscle biopsy.
Time frame: 6 months
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