Duchenne Muscular Dystrophy (DMD)
Conditions
Keywords
Duchenne Muscular Dystrophy
Brief summary
The purpose of this study is to evaluate the safety, tolerability, and efficacy of LE051 intravenous therapy in DMD patients treated with exon 51 skipping therapy.
Detailed description
This is a single-arm, open-label study to evaluate the safety, tolerability, efficacy, pharmacokinetic, pharmacodynamic, and immune response of LE051 after a single intravenous infusion in DMD patients, as well as the long-term safety and efficacy. Duchenne muscular dystrophy (DMD) is a progressive neuromuscular disorder arising from mutations in the dystrophin gene, leading to muscle weakness, disability, and premature mortality. LE051, an investigational therapy, incorporates a ADAR recruiting RNA expression cassette targeting human exon 51 and is delivered via adeno-associated virus. By inducing exon 51 skipping, LE051 holds the potential to treat approximately 13% of DMD patients.
Interventions
DRUGLE051
LE051 dose escalation : dose 1 and dose 2.
Sponsors
Shanghai Jiao Tong University School of Medicine
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
TREATMENT
Masking
NONE
Eligibility
Sex/Gender
MALE
Age
4 Years to 8 Years
Healthy volunteers
No
Inclusion criteria
Key Inclusion Criteria: * Male，4-8 years old at the beginning of screening (including boundary values; * DMD subjects with a clinical diagnosis of DMD referred to the Duchenne Clinical Practice Guidelines for Progressive Muscular Dystrophy (2020 edition) and whose genetic test results were confirmed to be applicable to exon skipping at No.51. * The subjects and/or his guardian voluntary participate in this trial and can comprehend and sign ICF. Key
Exclusion criteria
* Clinical signs of heart failure: left ventricular ejection fraction (LVEF) \<40%； * The average FVC percentage of the predicted value is less than 40%； * 12 lead ECG QT interval (QTc) \>0.45 seconds.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Frequency of AEs, SAEs | from day 1 to week 52 after treatment |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Changes in 6-Minute Walk Distance Compared to Baseline | from day 1 to week 52 after treatment | — |
| Changes in Supine-to-Stand Time Compared to Baseline | from day 1 to week 52 after treatment | — |
| Changes in 4-Stair Climb Time Compared to Baseline | from day 1 to week 52 after treatment | — |
| Changes in North Star Ambulatory Assessment (NSAA) Scores Compared to Baseline | from day 1 to week 52 after treatment | The North Star Ambulatory Assessment (NSAA) comprises 17 items yielding a total score between 0 and 34 points, with increased scores correlating with improved motor performance. |
| Changes in Dystrophin Protein Expression Levels in Muscle Tissue Compared to Baseline | from day 1 to week 52 after treatment | — |
| Changes in the Percentage of Dystrophin-Positive Muscle Fibers Compared to Baseline | from day 1 to week 52 after treatment | — |
| Changes in 10-Meter Walk/Run Time Compared to Baseline | from day 1 to week 52 after treatment | — |
Countries
China
Contacts
Primary ContactJiwen Wang
Outcome results
None listed