The primary objective of this study is to evaluate the safety and tolerability of SPOT-03 administered by intravenous (IV) infusion to DMD patients. In addition, this study will preliminarily investigate the changes in dystrophin nucleic acid concentration, dystrophin protein expression and engraftment, anti-dystrophin antibodies and cytokine profiles, as well as fat tissue mas and lean tissue mass following SPOT-03 administrations.
According to the requirements of the region/country and/or IRB/IEC, the patient and/or legal guardian have signed a written informed consent form and are aware of all relevant study content.
Boys aged ≥ 2 years to < 8 years and capable of walking independently for at least 10 meters.
The medical history includes clinical diagnosis of DMD and confirmed Duchenne mutations using validated genetic testing (MLPA and whole genome sequencing).
Able to tolerate muscle biopsy under anesthesia and have no contraindications to biopsy.
Complications other than DMD that may cause muscle weakness and/or motor dysfunction.
There are severe intellectual disabilities (such as severe autism, severe cognitive impairment, and severe behavioral disorders) that, according to the investigator's judgment, can affect the study.
Hospitalization for respiratory failure within 8 weeks prior to screening.
Asthma or underlying lung diseases that are poorly controlled, such as bronchitis, bronchiectasis, emphysema, or recurrent infectious pneumonia that investigator believes may affect respiratory function.
Single group
SPOT-03
GeneticSPOT-03 injection administered via IV infusion
Number of Participants with Treatment-Related Adverse Events Following Intravenous (IV) Infusion of SPOT-03 in DMD patients
Safety and tolerability of SPOT-03 will be assessed by collection and quantification of all adverse events, graded according to Common Terminology Criteria for Adverse Events (CTCAE) v5.0.
Concentration of Dystrophin Nucleic Acid in Blood
Dystrophin nucleic acid concentration measured in blood of DMD patients before and after IV infusion of SPOT-03. Quantification is performed by qPCR.
Concentration of Dystrophin Nucleic Acid in Muscles
Dystrophin nucleic acid concentration measured in muscles of DMD patients at baseline, during the treatment (only Group II) and after the last IV infusion (dose 8 for Group I and dose 32 for Group II) of SPOT-03. Quantification is performed by qPCR.
Percent of Normal Dystrophin Protein Expression in Muscles
Dystrophin protein measured in muscles of DMD patients at baseline, during the treatment (only Group II) and after the last IV infusion (dose 8 for Group I and dose 32 for Group II) of SPOT-03, expressed as percent of the mean wild-type level in healthy individuals without DMD or Becker muscular dystrophy. Quantification is performed by Western Blot.
Percentage of Dystrophin-Positive Fibers in Muscles
Fiber intensity and dystrophin-positive fibers measured in muscles of DMD patients at baseline and after the last IV infusion (dose 8 for Group I and dose 32 for Group II) of SPOT-03. Quantification is performed by Immunofluorescence (IF) / Immunohistochemistry (IHC).
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Shanghai Siponuoyin Biotechnology Co Ltd
Lead sponsor
Shanghai Children's Medical Center
Collaborator
