TS-005791 — This invention represents an improved, precision‑based AAV.U7snRNA‑mediated exon‑skipping gene‑therapy platform targeting exon 19 of the DMD gene to treat Duchenne and Becker muscular dystrophies.

TS-005790 — This novel AAV.U7snRNA‑mediated exon‑skipping gene‑therapy platform targets exon 18 of the DMD gene to treat Duchenne and Becker muscular dystrophies. Unlike micro‑dystrophin approaches currently in clinical development, this strategy leverages antisense sequences embedded within optimized U7snRNA cassettes to modulate endogenous DMD splicing and restore native dystrophin expression.

TS-005640 — This new gene editing system is based on prime editing, connecting N-terminal mutations in the DMD gene to enable expression of full-length or near-full-length dystrophin. This system also has the advantage of stably incorporating edits into the genome. Current treatments such as exon skipping and microdystrophin gene replacement have not successfully halted disease progression in clinical trials, leaving a critical need for therapies that restore full-length or near-full-length dystrophin, especially for patients with mutations in the N-terminal region of the gene, which have been under-addressed.

TS-005615 — This innovation is a new Econ-skipping gene therapy strategy for Duchenne muscular dystrophy (DMD) that targets exon 33 of the DMD gene. Previous viral DMD therapies rely on micro-dystrophins, which use engineered Isoforms that aren’t naturally expressed by humans, leading to uncertain long term safety and efficacy. To remedy this, development of an AAV-U7snRNA exon-2 skipping vector that restores full-length dystrophin has been demonstrated to be effective. Building on that success, this new innovation uses AAV vectors encoding antisense sequences designed to target exon 33. This is beneficial since it can be used in patients with any frame‑shift mutation affecting exon 33, enabling restoration of the open reading frame and production of a functional dystrophin protein lacking only a single exon.

TS-005608 — This alternative gene therapy strategy for Duchenne muscular dystrophy (DMD) targets exon 10 of the DMD gene. A previously developed AAV‑U7snRNA exon‑2 skipping vector was able to successfully restore full‑length dystrophin expression in a mouse model of exon‑2 duplication and has since advanced into clinical trials with promising preliminary results. To hold on that research, this new model uses AAV constructs carrying antisense sequences targeting exon 10 of the DMD gene, delivered under the control of a mouse U7 promoter. These constructs have been tested in DMD patient‑derived FibroMyoD cell lines, demonstrating effective targeting of exon 10 with the goal of restoring an open reading frame and reestablishing expression of either full‑length or partially functional dystrophin. Thus serving as an alternative to micro‑dystrophin therapies and further expands the therapeutic potential of U7snRNA‑based exon skipping for a broader spectrum of dystrophin mutations.

TS-005607 — This novel exon-skipping gene therapy strategy for treating Duchenne muscular dystrophy (DMD) targets exon 11 of the DMD gene. This method offers an alternative to conventional viral gene therapies that deliver engineered micro‑dystrophins. Previously developed AAV-U7snRNA exon-2 skipping therapies have already been developed and tested, so to build on this innovation, this new strategy identifies sequences within exon-11 and surrounding introns that can be targeted using antisense constructs encoded in optimized U7snRNA cassettes delivered by AAV vectors. These sequences enable therapeutic exon‑11 skipping to correct both single‑exon duplications, restoring a completely wild‑type dystrophin reading frame, and multi‑exon deletions, enabling expression of a partially functional dystrophin. Delivery is compatible with multiple AAV serotypes, including AAV1, AAV2, AAV5, AAV6, AAVrh74, AAV8, and AAV9, allowing broad clinical flexibility.

TS-005606 — This novel exon-skipping gene therapy strategy for treating Duchenne muscular dystrophy (DMD) targets exon 12 of the DMD gene, allowing full restoration of the native reading frame and facilitating expression of a full length dystrophin protein in single-exon duplication. In multi-exon deletions, skipping exon 12 can revitalize a functional open reading frame to produce a partially functional dystrophin, potentially with higher expression levels than current antisense oligonucleotide therapies. Building on prior success with an AAV.U7snRNA exon‑2 skipping therapy, the new IP identifies specific exon‑12 and intronic sequences within the DMD locus suitable for therapeutic exon skipping, incorporates these into optimized U7snRNA (SmOpt) cassettes, and enables expression via diverse AAV serotypes including AAV1, AAV2, AAV5, AAV6, AAVrh74, AAV8, AAV9, and myotropic variants.

TS-003699 — The Duchenne Heart App is a new approach aiming to assist families affected by Duchenne muscular dystrophy (DMD) in understanding and monitoring cardiac health. Unlike existing methods, this application allows DMD families to assess disease progression by comparing their child’s cardiac function to a group of boys of similar age who have undergone cardiac MRI studies. The primary advantage of the app is that it can provide personalized insights into disease progression, particularly concerning cardiac health, which is a critical aspect of DMD management. By offering a user-friendly interface for assessing relative disease severity, the app empowers families to make informed decisions regarding treatment and care for their loved ones. The app signifies a unique opportunity for pharmaceutical companies developing DMD therapeutics or foundations focused on DMD research and support. By incorporating the app into patient education initiatives, these organizations can enhance engagement and improve outcomes for individuals living with DMD and their families. Potential for further development includes enhancing the app’s functionality and usability. Future iterations may include additional features for tracking disease progression over time and integrating with electronic health records for seamless data sharing and analysis.

TS-002225 — Gene therapy researchers at Nationwide Children’s Hospital created an AAV medicated gene therapy for the treatment of neurological, neuromuscular and muscular disorders like SCN2A, Duchenne Muscular Dystrophy, Pitt Hopkins Syndrome, etc. Their therapy suggests using AAV gene therapy to deliver tRNA to read through premature stop codons caused by missense mutations preventing protein truncation. Multiple tRNAs will be inserted in an AAV construct to target multiple mutations. The therapy will effectively deliver genes of interest to the target cell types and can be adapted to other disorders through changing serotypes to switch targeted cell types.

TS-000833 — Psychologist Natalie Truba and Harvard Medical School’s Molly Colvin have developed a new tool to screen and measure the emotional, behavioral, learning, and social needs of pediatric patients diagnosed with Duchenne or Becker muscular dystrophy. Both muscular dystrophies are progressive, inherited disorders that display as muscle weakness that impacts the child’s ability to stand and walk. The intention of the tool is to advise and guide providers who lack direct access to mental health providers during clinic visits. This screening provides recommendations for support, guidance, or for further investigation or intervention for triaging mental, behavioral, or learning concerns.