Current Research Pipeline


Our first personalized research model is already in advanced stages. Led by Hope for Luka Inc.’s Executive Director, Tushar Tangsali, this N=2 study focuses on double exon skipping of exons 6 and 7 for his two sons, who share a deletion from exons 8 through 25.

This study will serve as the foundation for a detailed, step-by-step blueprint. This model will be adapted into personalized N=1 (or N=2) studies for other patients who also require double skipping of exons 6 and 7, but have different deletion endpoints—empowering them to pursue targeted research tailored to their unique mutation.

Preclinical Targeted Key Dates

Likelihood of Positive Results from the 6-25 Mice Model

Existing data from exon 6-18 deletion and exon 6-9 deletion models (PPMD & CureDuchenne Registry in the US, Leiden University Registry in Europe) suggest that the resulting shortened in-frame protein remains functional and stable, leading to a mild Becker phenotype.

U54 Grant – Awarded by Jackson Laboratory

In a significant advancement for our research initiatives, The Jackson Laboratory (JAX) has accepted and approved full funding for our nominated 6-25del and 8-25del models under their Precision Genetics U54 grant.

This partnership will accelerate the development of the two mice models, with the expected readiness in 9–12 months.

Regulatory and Industry Engagement

We have been actively engaging with key regulatory leaders, including Dr. Peter Marks (now former director of the Center for Biologics Evaluation and Research in FDA) , Dr. Nicole Verdun, and Dr. Rachael Anatol from the FDA’s Center for Biologics Evaluation and Research (CBER), ensuring adherence to their recommendations throughout the research process.

Joint Ownership of Mice Models with Leiden University Medical Center (LUMC)

Hope for Luka inc. has been granted joint ownership of the hDMD/del6-25 and hDMD/del8-25 micee models in collaboration with Leiden University Medical Center (LUMC) in the Netherlands.

LUMC has officially approved the use and modification of the hDMD mice models, available through The Jackson Laboratory (JAX), for the development of these specific deletions.
This partnership strengthens our research efforts and supports the advancement of translational studies in Duchenne Muscular Dystrophy.

N=2 Research Coordinator: Tushar Tangsali  

Since 2015, Tushar Tangsali has dedicated himself to finding a therapeutic solution for his sons, Neil and Neivaan. What began as a father’s mission of love has grown into one of the most advanced pre-clinical research efforts focused on double exon skipping of exons 6 and 7 in Duchenne Muscular Dystrophy (DMD).

Tushar shares:
“Our family is facing an urgent and highly specific challenge. Both of our sons—Neil (13) and Neivaan (10)—have deletions spanning exons 8 through 25 of the dystrophin gene. This mutation leaves them non-ambulatory and outside the scope of current exon-skipping therapies, which do not address the need for a double skip of exons 6 and 7. No pharmaceutical company is currently pursuing this approach, and gene therapy is not an option due to severe adverse effects observed in patients missing exons 8 and 9. ”

Tushar's unwavering determination has not only driven innovation in an unmet research space, but also laid the groundwork for other families seeking targeted solutions for rare mutations.

Potential Impact on the Broader DMD Community

Our N=2 research study on double exon skipping of exons 6 and 7 has the potential to directly benefit approximately 200 children in the United States and 100 children in Europe who share this specific therapeutic need.

These numbers are based on data from the PPMD (Parent Project Muscular Dystrophy) and CureDuchenne registries in the U.S., and the Leiden University Registry in Europe. A successful outcome could pave the way for personalized treatment pathways for each of these children—transforming a single-family study into a beacon of hope for hundreds across the globe.

Complexity of Deletions in Muscular Dystrophy

Within deletion-type of mutations, the most common type of mutation, the location and combination of deleted exons varies widely:
  • The dystrophin gene consists of 79 exons, and deletions can occur in many different locations.
  • Some mutations fall within "hotspot" regions, where existing treatments and research efforts are focused.
  • However, many patients have deletions outside of these hotspots, meaning they don’t benefit from current exon-skipping therapies.

The Problem: ∆8-25 deletion Resulting in Severe Duchenne

The screenshot above shows that the shapes of the end of exon 7 and the start of exon 26 do not match, and that is why this is an out-of-frame deletion and a severe DMD.

Proposed Solution: Exons 6 & 7 Skipping

If exons 6 and 7 are skipped, then we would have a shortened in-frame protein as shown below:

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