"Self-help" and "group rescue" for patients with rare diseases: a new model for drug development

Tree a shared vision, a community of strength
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The author of this article, Qian Pengzhan, graduated from the School of Pharmacy of Peking University and translated "One Billion Dollar Molecule - In Search of the Perfect Medicine"
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"China has a large population, the types of rare diseases and the number of patients are not 'rare', in the journey of finding an antidote to rare diseases, the new model of drug development is as important as the new scientific discovery, and it is also worth exploring and trying
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In June 2022, Xu Haoyang, who was just 3 years old, received a special injection to treat his unfortunate Menkes disease
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Menkes disease is extremely rare – it is extremely rare to say that it is extremely rare, but there is one case in every 100,000-300,000 newborns, and about 50 new children
are added in our country every year.

01Early development of rare disease drugs

Before answering this question, we need to realize that many rare diseases, especially rare diseases in which disease-related genes and defective proteins have been identified, can theoretically be cured
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02 The road to the rescue of cystic fibrosis

Cystic fibrosis is the "more common" rare disease in Europe and the United States, with about one case per 2,000-4,000 newborns and about 100,000 patients
worldwide.

In 1955, worried parents of children formed the Cystic Fibrosis Foundation to actively support drug research and development, and achieved great success, according to the Antidote, in the past few decades, through methods such as foot fundraising, "they have raised nearly $600 million, invested in life-sustaining advanced treatment technologies, and promoted the birth of
one new invention after another.

Figure 1 Life expectancy of cystic fibrosis patients at different ages (Image source https://knowablemagazine.

Bill, then CEO of the foundation, decided that he could not wait any longer, and the foundation would take the initiative to find an antidote
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Gates was generous with money, but it wasn't easy to get him to give money
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In addition to Gates' donation, the Cystic Fibrosis Foundation has contributed another $27 million, totaling $47 million, to sign a larger drug screening contract with Aurora Biologics, "the largest contract ever signed between a nonprofit and a for-profit organization
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03 Finding the antidote is a big gamble

In 2001, Aurora Biologics was acquired by Forte Pharmaceuticals, but Forte Pharmaceutical did not immediately continue to cooperate with the Foundation, because drug screening is only a small step in the long journey of drug development, real drug development requires much more investment, and cooperation with the Foundation is only a secondary project in Aurora's many projects
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The Antidote records the analysis of Fortis then president Sarto: "Aurora, as a screening company, makes sense
to sign such a contract with the foundation.

Finally, Forte chose to continue to work with the Foundation because of the benefits of providing research and development funding from the Foundation
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04 Patient self-help is not limited to "self-help"

In this process, the Cystic Fibrosis Foundation is not passively donating money and being willing to be the cash machine of pharmaceutical companies, but actively invests and becomes the shareholder of pharmaceutical companies
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Unlike charities, they pursue long-term investments rather than immediately supporting patients
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This requires a long-term shared vision that rare diseases are curable
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From the establishment of the Cystic Fibrosis Foundation in 1955 to the discovery of the antidote in 2019, after nearly 70 years, even from the 2000 Aurora Bio large-scale screening of the antidote, there are 20 years, countless children have died, many parents have given up, but the foundation's beliefs and visions have been passed down
from generation to generation 。 In the meantime, many families of children are facing huge mental and economic pressures, and the foundation could have used its own strong funds to provide them with more medical assistance, but they only spend 5% of their funds directly on helping patients every year, and nearly 80% of the funds are invested in medical projects, even after the "antidote" has been found, because 10% of patients are still in urgent need of antidotes
due to special genetic mutations.
The Foundation is able to do this and is always supported by its members because the Foundation, patients, and family members firmly believe that there is an antidote and are willing to invest in this long-term goal of "success does not have to be in me"
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Figure 2 Proportion of the foundation's expenditure in 2021 (Source: Author's own picture)

Figure 3 Progress of multiple research investments by the Foundation in 2021 (Source: Foundation Annual Report)

In the story of the Cystic Fibrosis Foundation, patient self-help is not limited to "self-help", parents of children with rare diseases have no one become scientists, but are active in their respective areas of expertise, using their own way to contribute money to the foundation, bringing together trickle trickles, and widely supporting the efforts
of professional scholars and institutions to find antidotes.
China's population is large, the types of rare diseases and the number of patients are not "rare", in the search for rare disease antidotes, the new model of drug development is as important as the new scientific discoveries, and it is also worth exploring and trying
.