Bridging the Gap Between Patients and Scientists:

Hope for Luka Inc. serves as a crucial link between patients with muscular dystrophy and the scientific community dedicated to finding solution

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  • Dr. Annemieke Aartsma-Rus

    Parents Becoming Research Coordinators

    By fostering connections between families and leading researchers, Hope for Luka Inc. catalyzes groundbreaking collaborations and accelerates the pace of discovery. Moreover, the organization plays a pivotal role in fundraising efforts, empowering parents to initiate independent pre-clinical trials and studies tailored to their children's unique needs.

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  • An "Open Effort" Mindset

    The "open effort" research funding model emphasizes on collaboration and transparency in the fight against Duchenne Muscular Dystrophy (DMD). By making research findings accessible to pharmaceutical and research organizations, this model fosters a collaborative environment where multiple entities can work together to refine and enhance the treatment approach.

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Research Pipelines

Current Research Pipeline: ∆6-25 Mice Model Creation

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

Background: Why One-Size-Fits-All Treatments Don’t Work in Muscular Dystrophy

Muscular Dystrophy is caused by mutations in the dystrophin gene— the largest gene in the human body. However, these mutations vary significantly from patient to patient, making it impossible to develop a universal treatment that works for everyone.

The Complexity of Deletions: Why Mutation-Specific Research is Needed

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.

Mice Model: To Test the End Result of Exon 6 & 7 Skipping

The primary objective is to test the efficacy of end-result of double exon-skipping that is meant to correct the out-of-frame mutation by skipping exons 6 and 7 (causing severe DMD) and convert them into in-frame mutation, 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 prior to pursuing the double exon-skipping process.  

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.​

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 stable this protein will be because there are no cases in nature with ∆6-25 (exons 6 and
7 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.

      Upcoming Research Pipeline: ∆7-44 lncRNA Study

       

      The Use of lncRNA to Preserve and Increase the Production of Dystrophin With ∆17-44 Exons Deletion

      The research aims to study the use of lncRNA to preserve and increase the production of dystrophin and to create a mice model of the genetic deletion/duplication to test the research's findings in an in-vivo setting.

      Dr. Aartsma-Rus will perform this research through Leiden University Medical Center in the Netherlands (See their website here)on the use of lncRNA to preserve dystrophin protein for Luka's deletion. The lncRNA study takes one year to complete, and will benefit exon-skipping studies, rare brain disease research as well as cancer research. 

      Dr. Aartsma-Rus of Leiden University Medical Center in the Netherlands is considered to be one of the best translational genetic's research scientist in Muscular Dystrophy worldwide.

      Cost of study:

      Funds raised for the studies will be provided to Leiden University Medical Center in The Netherlands in the form of donation as follow:

       Targeted Start Date March , 01st 2025
      Estimated Completion Date March, 01st 2026
      Number of Patients Benefitting  All In-Frame Deletions
      ∆6-25  Mice Model Cost (Campaign's Goal) $86,000

         

              Sposors: 6-25 Mice Model Campaign

              Our "Nonprofit Formation Sponsors"

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              Our Values

              Hope for Luka is an organization deeply rooted in the principle of compassion as well as consciousness, recognizing them as the cornerstones of our mission. We are dedicated to advancing independent pre-clinical trials, and our approach is driven by a heartfelt commitment to children with rare diseases.

              See Mazi Keyghobadi speaking on our values: 

              Our team is composed of researchers, scientists, and members who view patients not just as subjects of study, but as individuals whose lives hold invaluable potential. This compassionate perspective fuels our pursuit of innovation and excellence, ensuring that every step we take is motivated by empathy and a genuine desire to make a difference.

              By fostering an environment where compassion thrives, we believe we can achieve groundbreaking progress and bring hope to those who need it most.