Advancing treatment for Duchenne

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Advancing treatment for Duchenne: Give a chance to an unexplored drug to treat children with an incurable disease

Project Stage:
$500,000 - $1 million
Project Summary
Elevator Pitch

Concise Summary: Help us pitch this solution! Provide an explanation within 3-4 short sentences.

EspeRare is accelerating the cost-effective development of unexplored treatments for rare diseases acting as a philanthropic, knowledge, and technical broker between patients, pharmaceutical industry and regulators to bring treatments for these underserved patients. With its pharma partner: Merck Serono, the foundation is enabling a dormant drug, with a high therapeutic potential for children affected by a rare incurable disease, to be developed.

About Project

Problem: What problem is this project trying to address?

There are 7,000 existing rare diseases, affecting 1 in 10 people worldwide. Unfortunately only 5% of these patients have approved treatments. Given the lower profit margins of rare diseases, pharmaceutical companies are reluctant to invest in R&D to develop treatments for these patients. If they do develop one, they create high price treatments that collectively are putting a tremendous financial strain on the healthcare system. This challenge is calling for new models. Repositioning of existing drugs offers opportunities to accelerate and reduce cost. Repurposed drugs cannot be commercialized at high prices, therefore despite these clear therapeutic appeal for patients, this approach has not become a strategic focus for pharma.

Solution: What is the proposed solution? Please be specific!

To catalyze treatments for rare diseases, EspeRare leverage a highly networked, patient-centric, public-private partnerships model that give a chance to affordable drug to be developed for these underserved patients. Through it partnership with Merck Serono, owner of Rimeporide (a dormant drug with the potential to treat children affect by Duchenne) EspeRare is merging patient and commercial interests into a system that enables to develop this unexplored therapeutic opportunity. EspeRare offers to its partners a unique collaborative and financial model, which applies a comprehensive solution (R&D and project management, patient centricity, hybrid financing) to reduce R&D costs and timelines of rare diseases therapeutic development.
Impact: How does it Work

Example: Walk us through a specific example(s) of how this solution makes a difference; include its primary activities.

EspeRare is driving the preclinical and early clinical validation of Rimeporide in close collaboration with Duchenne patient groups and in partnership with Research and Clinical Centres of Excellence specialised in preclinical and clinical research in Duchenne. Late stage clinical activities will be conducted either by Merck Serono or by other partners that have the adequate infrastructure to conduct late stage clinical trials, manufacturing and commercialisation. EspeRare will be involved all along the development path of the drug to ensure ethical R&D and access to treatment for all patients.

Spread Strategies: Moving forward, what are the main strategies for scaling impact?

Today, therapies for rare diseases cost from $100K-$350K per year per patient, this is not sustainable. Increasing financial pressure on the healthcare system is calling for a new R&D model that can develop affordable drugs. Through a Product Development Partnership (PDP), EspeRare and Merck Serono are using its complementarity to reposition Rimeporide in Duchenne. This partnership is currently validation the model. The legal structure of EspeRare is set-up to enable to reproduce and extend its impact by engaging into tailored PDPs with multiple partners. The foundation has already initiated 2 other PDPs in other rare diseases. If this is successful, and our early data is confirming our hypotheses so far, then we will have created a new model to efficiently develop affordable drugs in small patient populations.

Marketplace: Who else is addressing the problem outlined here? How does the proposed project differ from these approaches?

Repositioning opportunities for rare diseases are often never tested nor developed because biopharmaceutical companies are rarely willing to risk investing R&D budget for these small markets and lower financial return. Additionally, patient groups tend to focus on one particular rare disease versus working across rare diseases and on lobbying rather than the research aspect of repositioning. Additionally academic and patient groups often lack knowledge and awareness of the pharmaceutical industry’s methods and culture to conduct all these complex activities. Finally, several non-profits have emerged that fundraise and drive research for rare diseases, however, none of them before EspeRare have implicated pharmaceutical companies directly. It is extremely challenging to cover the full cost and expertise needed to cover the entire repositioning process without engaging the private sector.


EspeRare is an agile small foundation with 3 employees and a dozen of consultants on its payroll to cover the diversity of expertise necessary to conduct the drug development activities of the program in Duchenne. In addition, EspeRare is supported by a foundation board constituted of seasoned experts in dug development, patient empowerment, rare diseases and legal aspect of the pharmaceutical sector; among them Ewen Sedman, Chief Business Officer R&D, is the Merck Serono representative on the board. Through its contribution, he supports a strategic alignment between the pharmaceutical company and EspeRare objectives to insure a win-win product development partnership. Additionally through a Joint Steering Committee between EspeRare’s team and Merck Serono R&D experts, EspeRare benefits from the pharmaceutical guidance in the development of its program in Duchenne.
About the Lead Co-Creation Partners
Merck Serono S.A.
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Merck Serono S.A.

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Chief Business Officer, Translational Innovation Platforms R&D



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Primary European Country where this Project is creating social impact
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All, once develop it will be made available for all the children affected by this fatal pediatric disease

Select the category that best fits the type of your project:

New products & services: Entries in this category develop and offer essentials product and services that address needs currently unmet.

What awards or honors has the project received?

2.4M and a licence to develop Rimeporide in Duchenne Muscular Dystrophy

Project Summary
Co-Creation Model: Tell us about your main strategic partners and how the partnership truly create value. For each Partner please include its type (business/social/public), its name, a short description, its key motivation to participate in the co-creation project, and the key contributions it is making in the co-creation project. Please follow the format displayed below:

Type of partner 1 [business]: pharmaceutical company
-An international mid-size pharmaceutical and life science company, that develops and commercials treatments for neurological and oncological diseases.
- Merck Serono is partnering with EspeRare to enable and accelerate the development of one of its dormant drug (Rimeporide), with the prospect of addressing Duchenne, a paediatric rare incurable disease.
-Merck Serono has granted EspeRare the rights to develop Rimeporide that has previously been developed for heart failure in Duchenne and provide an endowment to the foundation to develop the opportunity.

-Partner 2
-Type of partner [social]: non-profit drug development engine
-A non-profit organisation established in Switzerland in 2013,that is recognised to be operating in the public's interest. Its mission is to drive and accelerated de development of treatment for rare diseases.
-In-line with its philanthropic Product Development Partnership model, through this collaboration EspeRare is enabling the development of unexplored assets for an incurable rare diseases.
-EspeRare is contributing its drug development know-how as well as its patient and expert network. It is driving animal studies, and is developing protocols for clinical trials. It has also raised public and philanthropic funds to co-finance the program activities.

Impact: What is the impact of the work to date? Also describe the projected future impact. Please specify using qualitative and quantitative data (e.g. # of indirect and direct beneficiaries); help us understand how this solution truly makes a difference.

Duchenne Muscular Dystrophy (DMD) is a severe genetic neuromuscular disease that affects 1 in 3,500 boys with an estimated of 50,000 boys affected in the US and Europe. It is caused by a mutation in the DMD gene. Individuals with DMD have progressive loss of muscle function in early childhood. This progressive muscle wasting typically leads to loss of ambulation before 10 years of age. In their 20s, the disease progresses to paralysis, increased difficulty in breathing as well as cardiac muscle dysfunction that leads to heart failure. DMD kills most of the boys it affects by their 20s and currently there is no treatment for this disease. If we are successful, then a major proportion of the 50,000 children will have access to an effective treatment. Additionally, we will have proven a new pathway to affordable treatment development that is set to be replicated for other diseases.

Funding: How is your project financial supported? [select all that apply]

Individuals, Foundations, NGOs, Businesses, National government, Other.

Sustainability Plan: Has your project already reached financial sustainability? If not, what is this solutio’s plan to ensure financial sustainability? Do the main partners have enough stake to sustain the solution? If this project requires limited budget, how will other resources be secured to maintain or grow this work?

The development of Rimeporide in Duchenne until its first milestone (preclinical validation of its therapeutic opportunity) has been secured by a hybrid funding mechanism that is in line with the non-profit positioning of EspeRare’s drug development model. Concretely EspeRare has received funding from Merck Serono that is complemented by grants from the Swiss government Technology and Innovation bureau and from the French Telethon (AFM). In addition, EspeRare receives in kind support from Genetic Alliance, an international advocacy organization based in the USA. Past the first milestone, Merck Serono has committed to reinvest in the project to finance the early clinical development of the opportunity. Beyond the Duchenne program, EspeRare is building a portfolio of drug development programs in rare diseases, and has initiated 2 other programs.

Founding Story: Share a story about the "Aha!" moment that led the Partners to get started and/or to see the potential for this to succeed.

As a mother of a child affected by a rare disease, Caroline is aware of the power of patient engagement in rare disease drug development. In this context in 2011, she encountered another mother of children with a rare disease, US Ashoka Fellow Sharon Terry, pioneer in citizen health and patient empowerment, with whom she developed a patient-centric model for drug development that became a building block in the EspeRare model. In 2012, Caroline with its two co-founders, successfully received an initial funding of €2.8 million from Merck Serono to launch the foundation and develop its first program in Duchenne. By establishing EspeRare, the founders Caroline Kant, Florence Porte and Beatrice Greco along with Sharon Terry, the foundation’s president, achieved a breakthrough in developing an innovative model to accelerate drug development for underserved patient burden by rare diseases.

About the Co-Creation
Barriers: What main barriers may you have encountered to co-create during the creation and implementation of the project and how did you try to overcome them?

For EspeRare to be able to give a chance to this dormant drug to address Duchenne, Merck Serono had to grant this valuable pharmaceutical asset to EspeRare and endow the foundation with a donation. For this to happen, the partnering model needed to merge pharmaceutical commercial interests and the foundation’s philanthropic mission of driving therapeutic development for a small and underserved patient population. This was overcome by building a value proposition that serves both interests. On one-hand EspeRare de-risks and accelerate the development of a Rimeporide in Duchenne and the other hand Merck Serono did commit to an agreement model that secures full development and commercialization of the drug within an ethical, access to health framework.

Governance: What is the type of the relationship between the partners? (e.g. joint venture, contractual relationship, joint project...)

The partners have signed a licence agreement that grants EspeRare the rights to develop Rimeporide in Duchenne. In this partnership, Merck Serono is contributing its pharmaceutical asset and expertise. EspeRare is bringing its patient/expert network and its operational agility. In the future, Merck Serono has the opportunity, within an appropriate ethical framework, to buy back the program for late development and commercialisation. A Joint Committee drives shared decision-making between on the Duchenne program while leaving EspeRare free to engage with other partners.

Interaction model: How is the project a transformative partnership? How is the interaction transforming the partnering organizations and their employees/ leadership in terms of creating a new vision, new management practices, new skills and new organizational structures? Please provide for concrete examples

This partnership is transformative because it requires that an NGO performs, in a very complex environment and with the discipline of a company, drug development. It also requires that a pharma company risk sharing an asset and supporting its development without blockbuster potential. Partnerships between for profit and non-profit organizations require the creation of a novel structure to allow the best of both cultures to flourish, and new interfaces to be established. For instance, Caroline carefully selects the good contact person within the pharmas companies who can share her vision and be able to bring his organization forward; she also gained the trust of patients’ organisations and fully integrated them in the process. On the other hand, Merck Serono has agreed to explore a new way of doing business while being flexible and collaborative to address a rare disease.

How did you find out about this competition?

Ashoka team