Cure Rare Disease has diligently advanced over the last 3 years in developing the first CRISPR based, customized therapeutic, for not just one, but several rare mutations, most of which have no other opportunity for treatment. The advancements we are making for each of our patients are not just helping the individual, but also educating the space as a whole on various aspects of drug development as well as different approaches that can be used to combat rare disease. We believe that every single person living with rare disease should have the opportunity at life-changing treatment, and we believe that by helping one, this helps the greater rare disease population directly and indirectly.

Researchers running experiments on patient cells at the Yale Lab


+Successfully corrected 4 DMD, 1 LGMD mutations in-vitro

Our mission at Cure Rare Disease is focused on developing personalized therapeutics using the latest gene therapy and gene editing technologies. At present we have developed and continue to develop over 10 therapeutics – both CRISPR and non-CRISPR based - and tested those on patient’s cells and a subset in animal models. Testing and development continues in parallel, helping to increase our knowledge about CRISPR and gene therapy broadly. Through the success of our early programs, we have helped to educate the FDA as it relates to systemically delivered CRISPR therapeutics. New therapeutics are difficult to advance given the large number of unknowns. However, through our collaborative infrastructure, we have been able to bring these next generation drugs from idea into the reality of dosing humans in the near future.  

What’s become obvious in this journey is the need for good animal models to test these therapeutics in. For that reason, we have dedicated significant time and energy into developing patient-specific mouse models that will mimic patient mutations in a mouse, so as to decrease the chance of failure regarding the translation of drugs into humans. At present, we have 10 mutation-specific humanized mouse models under development. These resources help not only our endeavors but seek to empower the field more broadly to have better models at our collective disposal to rapidly translate drugs from preclinical development into the clinic. We are developing novel ways to more rapidly develop mutation-specific mouse models.


+Establishing Patient & Clinician Reported Outcomes

As we near the clinical dosing of our first patient, we are redefining clinical endpoints to be more inclusive of the diverse community that we serve. Whereas traditional endpoints are still helpful, such as the 6-minute walk test, they exclude significant parts of the population. To help set an example for the drug development community more broadly, we are integrating Patient and Clinician Reported Outcomes into our clinical studies to better capture the voice of the patient. For example, using patient reported outcomes such as improvement in quality of life helps to bring the patient perspective into the mix to determine the efficacy of a drug. Biomarker or functional endpoints alone don’t capture the full impact a drug may have on a patient and the patient family.

Researchers collaborate at the Lek Lab dedicated to rare genetic disease


+Bring together world renown researchers & clinicians to develop a new mechanism for rare and ultra-rare patients

Collaboration is at the heart of CRD and what we do. One of our focusses, and great successes since conception has been the ability to bring together clinicians, researchers and various industry collaborators to realize our vision. For example, all collaborators share data amongst the research consortium so that lessons learned from one project can be internalized amongst the collaboration and redundancy eliminated. Moreover, our industry collaborators help to make high-cost items more accessible for our programs since they strongly believe in the mission.

The success we’ve had in bringing all of these important pieces to sit at one table speaks to the power that can be found in selfless motives and patient-first treatment.  From the patient to the scientist, we believe every voice is important and there is great success when each of these players communicate and work together.


+Bridging the gap between patients and patient families with science & data.

In addition to bringing together a powerful team, our approach has opened doors in efforts to dismantles some of the mystery/unknowns that exist when thinking about “science in a lab.” We welcome patients and their families to tour our lab and meet our researchers. This has been an impactful, and unifying experience for all those involved. From the time a family starts the process for a customized therapeutic they are invited to be involved as much or as little as they prefer. From joining calls with scientists, to learning results on various tests and biopsies, we believe the patient has the right to know this information if desired, and not just know it, but understand what it means and how the learnings are applied.

Researchers analyzing results at the Yale Lab


+Develop the infrastructure to apply the process across many platforms & diseases

We strongly believe that the optimal solution for helping patients is realized by driving the supply chain – from early-stage research to clinical dosing and follow up. While it’s not the only way to develop therapeutics, we believe that it very much aligns with the interests of patients. The drug development ecosystem is very complicated, and many misaligned incentives often delay or derail promising drug development programs with the patient suffering the consequences. Working with Cure Rare Disease, whether a researcher or a patient-family, you are contributing to the expansion of translational science wholly focused on lean development of life-saving drugs with no red tape to slow that process down. From preclinical testing to some of the most complicated manufacturing processes, the model for creating 1 or 2 or 100 mutation-specific therapeutics is similar. The hope, and increasingly the realization, is that by developing a therapeutic for 1 person, those learnings are directly translatable and help to speed the downstream development of additional therapeutics. CRD strives to add to the overall progress in rare disease research, not replace current processes that also work and provide patients with treatment. Just as we have benefited from the previous learnings and work done in this space, we aim to bring the same level of impact and progress so that NO patient is left behind.


Final thoughts

The dosing of our first patient is fast approaching, and it is in these final months that we reflect back on the journey of developing a customized therapy. There is so much more to be done to ensure that every patient has an opportunity for life-changing treatment, but for a minute we are grateful for the learnings of this journey. The work we have done over the last 3 years has taught us, along with the entire rare disease space, the novel approaches that can be taken to tackle even the rarest of diseases and the methodology used to treat a single patient is being applied to the treatment of larger groups. It is in our learnings that we have seen how just one patient has, and can provide, so many others with a chance at life-changing medicine. Cure Rare disease is changing the world of rare disease, one patient at a time.