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.

TS-000438 — Gene therapy experts at Nationwide Children’s have developed an AAV-mediated CRISPR/Cas9 gene editing method for the correction of exon duplications in patients with DMD (Duchenne muscular dystrophy). This therapy has the potential to permanently corrects DMD by stopping and potentially reversing the progression of muscle wasting and fibrosis in affected individuals. Currently about 11% of DMD cases are caused by exon duplications and our experts plan to use this invention to correct for this underlying cause within muscle tissues.

TS-000308 — Absence of the dystrophin protein leads to the severe muscle disorder Duchenne Muscular Dystrophy (DMD). Nearly asymptomatic patients have been identified to produce a functional N-terminal truncated dystrophin protein. Gene therapy experts at Nationwide Children's Hospital are developing a U7-snRNA exon skipping strategy to facilitate expression of a truncated dystrophin protein for patients carrying mutations within exon 6 to 9 of the DMD gene, rendering their dystrophin nonfunctional. Our experts have effectively skipped exon 8 in patient-derived cell lines and in turn produced a functional truncated dystrophin protein product.

TS-000203 — Exosomes as a Novel Therapy for Fibrosis

TS-000178 — A novel mouse model for testing exon skipping therapies for DMD disease has been generated at Nationwide Children’s Hospital. This mouse model carries a duplicated exon (exon2) in the DMD gene as compared to a point mutation in the most common mdx mouse model. This unique dystrophic mouse can serve as a preclinical testing model to test various therapies that mediate exon skipping.

TS-000127 — Putative cytidine monophosphate-N-acetylneuraminic acid hydroxylase-like protein is an enzyme that in humans is encoded by the CMAH gene. A new CMAH-Deficient mouse model for DMD-related research has been created. The CMAH-Deficient mouse model mimics the human disease better than the current standard model thus providing a model for DMD that facilitate translational research to be more relevant to issues affecting the human disease. Available through Jax Labs: Jax.org Stock #017929 Stage of Development: Development is Complete Potential Applications/Markets: It can be used to study development of drugs and biologics to treat Duchenne Muscular Dystrophy, therefore its primary application is in translational research. Opportunity / Seeking: Licensing