Open-label, single dose clinical trial of scAAV9.U7.ACCA via peripheral limb vein injection for Duchenne muscular dystrophy boys who have a duplication of exon 2.

Start Date15 Jan 2020

Sponsor / Collaborator

Nationwide Children's Hospital

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100 Clinical Results associated with scAAV9.U7.ACCA

100 Translational Medicine associated with scAAV9.U7.ACCA

100 Patents (Medical) associated with scAAV9.U7.ACCA

Literatures (Medical) associated with scAAV9.U7.ACCA

01 Dec 2023·Molecular Therapy - Methods & Clinical Development

Persistence of exon 2 skipping and dystrophin expression at 18 months after U7snRNA-mediated therapy in the Dup2 mouse model

Article

Author: Lay, Jacob W ; Vetter, Tatyana A ; Rohan, Natalie L ; Bradley, Adrienne J ; Gushchina, Liubov V ; Flanigan, Kevin M ; Wein, Nicolas ; Frair, Emma C

Duchenne muscular dystrophy (DMD) is a progressive X-linked disease caused by mutations in the DMD gene that prevent the expression of a functional dystrophin protein. Exon duplications represent 6%-11% of mutations, and duplications of exon 2 (Dup2) are the most common (∼11%) of duplication mutations. An exon-skipping strategy for Dup2 mutations presents a large therapeutic window. Skipping one exon copy results in full-length dystrophin expression, whereas skipping of both copies (Del2) activates an internal ribosomal entry site (IRES) in exon 5, inducing the expression of a highly functional truncated dystrophin isoform. We have previously confirmed the therapeutic efficacy of AAV9.U7snRNA-mediated skipping in the Dup2 mouse model and showed the absence of off-target splicing effects and lack of toxicity in mice and nonhuman primates. Here, we report long-term dystrophin expression data following the treatment of 3-month-old Dup2 mice with the scAAV9.U7.ACCA vector. Significant exon 2 skipping and robust dystrophin expression in the muscles and hearts of treated mice persist at 18 months after treatment, along with the partial rescue of muscle function. These data extend our previous findings and show that scAAV9.U7.ACCA provides long-term protection by restoring the disrupted dystrophin reading frame in the context of exon 2 duplications.

100 Deals associated with scAAV9.U7.ACCA

R&D Status

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Indication	Highest Phase	Country/Location	Organization	Date
Muscular Dystrophy, Duchenne	Phase 2	-	Astellas Gene Therapies, Inc.	-

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Study	Phase	Population	Analyzed Enrollment	Group	Results	Evaluation	Publication Date


scAAV9.U7-ACCA (ASGCT2023)	Not Applicable	Muscular Dystrophy, Duchenne	3	scAAV9.U7-ACCA	irtxalfcbr(jsnuktautc) = nvhghbpost pzyicyipek (cwztcjanpm ) View more	Positive	01 May 2023
ASGCT2022	Not Applicable	Muscular Dystrophy, Duchenne exon 2 duplications	3	scAAV9.U7-ACCA	qrkbbkvdgq(dfuqvitlpd) = uimxwbqnvg dvhapkcsfc (iqahyctuer ) View more	Positive	02 May 2022
NCT04240314 (ASGCT2021)	Phase 1/2	Muscular Dystrophy, Duchenne	2	scAAV9.U7-ACCA vector	ugkdczrlog(uuskrksoud) = subtle improvements were seen in the 100 meter timed test for subject 1 (54.3% predicted to 58.8% predicted) at 6 months and 61.4% predicted at 12 months sutzsdurjx (unhmtuvkqc ) View more	Positive	27 Apr 2021

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