Current Pipelines
Current Area of Focus:
Double Exon-Skipping of 6& 7 - Phase One: Mice Model ∆6-25 Creation
Board member, and newly appointed Executive Director of Hope for Luka Inc. Tushar Tangsali, and father of two sons with exon 8-25 deletions, has spearheaded this initiative. Through extensive research, he aims to fund studies benefiting his children and others with mutations within the first 26 exons of the dystrophin gene.
| Targeted Start Date | January, 3rd 2025 |
| Estimated Timeline of ∆6-25 Mice Model Creation | March, 31st 2025 |
| Number of Patients Exons 6 & 7 Skipping May Benefit | 180 Patients |
| ∆6-25 Mice Model Cost (Campaign's Goal) | $25,000 |
Road Map of Targeted Research Studies for ∆8-25 Deletion
Research Focus: Exon 6 & 7 Skipping
The primary objective is to test the efficacy of double exon-skipping of exons 6 and 7 to correct out-of-frame mutations, characteristic of severe DMD, and convert them into in-frame mutations, potentially resulting in a milder phenotype with improved mobility and delayed disease progression.
In cases like the Δ8-25 deletion, the absence of exons 6 and 7 could produce a shortened, in-frame dystrophin protein. However, the functionality of this protein is unknown due to the lack of natural occurrences of Δ6-25 deletions. Developing a Δ6-25 humanized DMD/mdx mouse model will allow researchers to assess the therapeutic potential of exon 6 and 7 skipping.
The Problem: ∆8-25 deletion Resulting in Severe Duchenne
Possible Solution: Exons 6 & 7 Skipping Research benefitting Large Population of Mutations in the Exons 6, 7 and 8 Hot Spots
If exons 6 and 7 would be skipped, then we would have a shortened in-frame protein as shown below:
Although this is in-frame, researchers have no idea of how functional and how
this protein will be because there are no cases in nature with ∆6-25 (exons 6 and7 are skipped, and 8-25 are deleted). The only way to determine this is to generate a ∆8-25 hDMD/mdx model, and perform the exon 6&7 skipping.
Why Mice Model?
To test the end result before starting exons 6 & 7 skipping Study & Process:
Instead of developing the ∆8-25 hDMD/mdx model and then testing all the therapies to see if they'll work, we should focus on the end result and work on the development of ∆6-25 hDMD/mdx model. When exons 6 and 7 are skipped, the resultant missing segment will be ∆6-25. If this mouse model shows mild becker phenotype, then we'll know for certain that the exon-skipping of exons 6 & 7 therapy will become an effective treatment
Current Accessibility of Mice Model Creation for Interested/Active Parents & Patients
- Current State:
- Only Research Facilities/Pharmaceuticals/
Universities decide what mice models will be created based on their relevant studies in their pipelines. Parents have no say in that process. - There are no organizations in the world right now offering to create mice models for interested/active parents or patients for their specific mutation.
- Our Vision To Change That Reality:
- We are aiming to enable parents, patients, physicians as well as pharmaceutical companies to test the new or already-in-market drugs/trial studies by raising capital for any new mutation that is submitted to our nonprofit, and fund the most credible research facilities to create mice models for each of the mutations.