One thing many rare patients know is that many rare diseases do not currently have any therapies. However, that is changing. There are so many possible solutions that need coordination, money, research, patient input, and dedication to unfold.
The World Orphan Drug Congress
held in Barcelona on November 11-14th, 2019 was attended by a spectrum of participants who all have interests surrounding orphan drug development. Who is interested in seeing orphan drugs made? Patients, advocate groups, AI technology developers, pharmaceutical companies, venture capital investors, regulatory bodies, professors, researchers, parents; the list goes on. And each of them has the same larger goal: get a good drug made that patients need, want to use and can buy.
New Technologies: AI, Gene and Cell Therapy, Repurposing Drugs
There were many questions discussed about the future of new technologies – the rare disease community is full of them. It’s clear the field has potential for innovation. So many diseases have little research done, meaning there’s an untapped solution somewhere that may be buried beneath time and money constraints. However, AI and new gene and cell therapies are unlocking possibilities for webs of diseases. Rather than just finding a new drug itself, they are finding faster and easier ways to identify diseases, symptoms, and drug impacts.
The field is innovative because it has to be. There are not many patients to make these drugs profitable, so they search for methods to make the drugs cheaper. This includes using AI to sift through information to see what drugs may be able to be tinkered with to suit another disease and finding the best match of drugs for the specific patient and subsets of the patient population. Specific diseases were used as inspiration. One speaker told his story of helping to get a repurposed drug to treat alkaptonuria (AKU). Others told of using more specific data to find which drugs are more effective for different demographics. For example, a drug may be more effective on men than women with the same disease or vice versa.
The question of access to suitable drugs is another obstacle for rare diseases. Sometimes, there is only one drug option, and while it may be available in some countries, it may not be in others. Purchasing these drugs is expensive, and many state public health programs don’t budget it in. Then, getting through the regulations of pricing drugs takes time as each region, locality, or even individual hospitals must decide on the price most appropriate for their specific population. This task might seem minor, but because it involves so many different systems and levels of bureaucracy, can keep patients from accessing effective medicines. This is a process that slows how soon the treatment is available, frustrating many patients for which it is quite literally life or death.
“Patients are dying, revenues are lost, and some companies won’t come to Europe because of the regulation that boxed them out,” one speaker said.
Patient Participation and Advocacy
Another face of the conference was the patient and how they could get the best treatment options. This means patient involvement in each step of the drug-making decision process. Including patients more holistically is vital to making sure a treatment is what patients need and not just what drug makers think they need.
“Sometimes a patient is the biggest expert on their own disease in a very different and more intimate way than a doctor,” one participant said.
Patients and doctors understand the disease from very different angles and receiving patient feedback from the beginning directs the trials towards patient priorities. The differences can seem minor to manufacturers. One speaker told a story of when integrated patient feedback alerted them to the importance of how a drug was administered and it sent the drug creation in a new direction.
How can patients insert themselves into the process?
Some speakers discussed how to get the most effective patient advocacy. Patients often need a liaison to connect them to researchers, and advocacy groups often do this by uniting the community. A speaker argued that patients often act independently when trying to find the best solution for them, but this would be more effective if they engaged on a community level because ultimately more advocates together make a stronger case. Speakers who had gone through the process of using patient advocacy to propel forward a case on a repurposed drug emphasized another barrier: the complex language of medical information. They created their own book, The Patient Book Handbook
which uses simpler language to help patients navigate the many avenues of advocacy, funding, voices, and approvals. It involves getting informed about the disease, actively working with drug manufacturers, and creating strong platforms to get through approval processes.
If you’re reading this article, you’re probably already engaged in the patient community. My lesson of the conference was that when patients get informed, join networks, and understand the prospective solutions, there is a lot of untapped potential. The whole rare disease community has a goal: get treatment. As the consumers, patients can shape what those options are by inserting themselves into the development process.
The event was organized by the National Organization for Rare Disorders. Learn more about this organization here