Current Pipelines
Current Area of Focus: ∆6-25 Mice Model
Tushar Tangsali, Hope for Luka's board member and a dedicated father of two wonderful boys with with mutations of 8 to 25 deletion, has created a pipeline through extensive research on all available studies in the past 8 years in order to attempt the once thought "impossible", and fund current studies that will benefit his boys as well as other boys with mutations that fall 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 |
RoadMap of Targeted Research Studies for ∆8-25 Deletion
Phase One's Initial Study: Exons 6 & 7 Skipping
To test the efficacy of double exon-skipping of exons 6 & 7 in order to correct out-of-frame mutations (severe Duchenne Muscular Dystrophy) and convert them to an in-frame (less severe, higher chance of ambulation and prevention of premature death)
Exons 6 & 7 Skipping Study
∆8-25 deletions (severe Duchenne):
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 of Dr. Nicolas Wein of Nationwide Children's Hospital 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.