Not long after establishing 3billion, I had an opportunity to participate in a rare patient advocacy summit held in Irvine, California, in September 2017, organized by Global Genes, the world’s largest rare disease group. 

Although the event was mainly for rare disease patients and their families, global pharmaceutical firms, diagnostics makers, and star scientists all came together to share the latest knowledge ranging from basic scientific research to the newest therapeutic agent development. I was surprised to see that patients and their families had a great understanding of rare diseases and that their knowledge of the latest medical research was good as that of most experts.

Come to think of it, it was so natural that rare disease patients and their families had strong expertise in their diseases. This is because it would be best for the patient to take in all possible information, including the latest medical research papers, and try the possible methods one by one based on this so that the suffering family can be quickly diagnosed and treated. 

Patients’ families with expertise create patient organizations and secure funds through various philanthropic activities to develop treatments for rare diseases, then fund necessary basic research, and cooperate in recruiting patients for clinical trials. They are aggressively pushing for activities to develop treatments for rare diseases more directly, such as supporting through investment in treatment developers.

Established by parents in 2003 for their daughter Arya, who suffered from Spinal Muscular Atrophy (SMA), the SMA Foundation has successfully developed the treatment Evrysdi in collaboration with pharmaceutical companies PTC Therapeutics and Roche.

Based on funds secured through the success of Evrysdi, the SMA Foundation launched a project in 2021 to support research on rare neuromuscular diseases, including SMA. This project supports the development of more treatments for rare diseases by providing funds of up to about $60 million to researchers studying essential medicine and treatment development for rare neuromuscular diseases.

The Foundation for Fighting Blindness has created a “retinal degeneration fund” to support start-ups developing technologies to prevent and treat rare retinal diseases. Opus Genetics, which received about $19 million through this fund in 2018, is developing gene therapy for two rare retinal diseases simultaneously.

Giant axonal neuropathy is a very rare disease with only 50 patients reported so far worldwide. In the case of such a rare disease, it is difficult to find a pharmaceutical company willing to develop a treatment, and it is difficult to find an institution willing to invest in such a pharmaceutical company.

The parents of Hannah, a daughter suffering from giant axonal neuropathy, created the “Hanna’s Hope Fund” to provide funds to research centers to develop a cure for this disease. Through various events, the fund raised about $8 million to support a research team at the University of North Carolina, which was the only institution working on gene therapy for giant axonal neuropathy.

Three years later in 2015, the gene therapy of the University of North Carolina scored the FDA nod for a clinical trial. The therapy could be prescribed to patients participating in the trial and Hannah was the first patient to receive the prescription. 

What are the three key points in the patient group-led drug development cases mentioned above? 

First, the patient groups raised funds through various fundraising events. Second, the patient groups looked for a company or a university lab that need funding for research on rare disease treatment development. Third, they provided the funding.  

One particularly notable thing in supporting funds is that they supported as many institutions as possible in the second stage. 

Why did they support as many institutions as possible, rather than selecting and applying to those with the most potential? Because there was no time. In order to save a family member suffering from a rare disease, a drug must be developed and prescribed as quickly as possible. In the case of rare diseases in children, if not treated within several years, they often lead to death. 

You can’t waste time by saving money and supporting one institution after another only after the research fails. The patient groups have preferred to support multiple research institutes at the same time to support as many treatment studies as possible, even one of them to succeed in reaching the clinical trial stage so that my family can receive prescriptions.

In Korea, many rare disease groups have been formed. However, few of them have shown meaningful progress because they did not directly engage in the development of treatments by funding or investing in companies or research institutions like overseas ones.

For them, it is difficult to raise a fund or look for a company or a research institution in other countries that conduct treatment studies. 

Few patients' families can afford to devote their time to this kind of work full-time. Not many people know what problems patients with rare diseases face and what kind of support they need.

First of all, it would be good to start by publicizing rare diseases and informing society and the public about what kind of help patients and their families need. 

In fact, successful overseas patient groups all started from this stage. To raise funds for Hannah’s Hope Fund, her parents held various fundraising events such as a 5-km run challenge for Hannah, a golf tournament, and a gala show to inform the public about what kind of help rare disease patients need. Then, they were able to secure an initial fund of $8 million.

Feb. 28, next Tuesday, is Rare Disease Day. I hope that more people will be aware of rare diseases and what kind of help patients need.

This column was originally published in Korean in Korea Healthlog, a sister paper of Korea Biomedical Review. -- Ed.