Treating neuromuscular diseases: unveiling gene therapy breakthroughs and pioneering future applications

Table 6 Update on developments of micro-dystrophin gene replacement therapy for Duchenne muscular dystrophy (DMD)

Drug name/Trial ID	Sponsor	Micro-dystrophin	AAV serotype	Promoter	Status
Delandistrogene moxeparvovec (SRP-9001)/ NCT05096221 NCT03375164	Sarepta Therapeutics	ΔR4-23/ΔCT	rAAVrh74	MHCK7	FDA Approval/ Phase III Phase I/II
PF-06939926/ NCT04281485 NCT03362502	Pfizer	ΔR3-19/20–21/ΔCT	AAV9	hMSP	Terminated Phase III* Phase Ib#
SGT-001/ NCT03368742 SGT-003/ NCT06138639	Solid Biosciences	ΔR2-15/R18-22/ΔCT	AAV9 AAVSLB101	CK8	Phase I/II Phase I/II
RGX-202/ NCT05693142	Regenxbio	ΔR4-23 (includes CT)	AAV8	Spc5-12	Phase I/II

CT: C-terminal domain
^#The death of a 16-year-old non-ambulatory trial participant with advanced disease, who was treated with a high dose (2 × 10¹⁴ vg/kg) of PF-06939926 in an open-label Phase Ib trial (NCT03362502), led to a temporary FDA hold on the drug [113]
^*Pfizer Inc. have announced that its Phase 3 trial (NCT03362502) of the mini-dystrophin gene therapy in young boys with DMD did not achieve its primary goal of improving motor function [114]

ISSN: 1423-0127