Empowering the Fight Against Rare Diseases One Disease at A Time

Kelley Dalby plays with her son Connor, who suffers from a very rare genetic disease, a mutation in SCN2a—the gene encodes a sodium channel that, when mutated, is commonly associated with early-onset epilepsy and linked to autism and developmental delay.

Rare and ultra-rare genetic diseases are hard to fight. Sometimes only affecting as few as ten people or less around the world, information about them is often scarce and treatments very difficult to find and develop. No-one knows this better than software engineer Sanath Kumar Ramesh, the founder and CEO of Open Treatments, who is the father of a 2-year-old boy with an ultra-rare genetic condition—Sedaghatian type Spondylometaphyseal Dysplasia (SSMD) caused by a mutation in the GPX4 gene.

Ramesh started the nonprofit Open Treatments Foundation in Washington in March this year. It is one of several new initiatives, such as the n-Lorem Foundation, that have been set up to help fight rare diseases. Open Treatments is building a new software platform aiming to decentralize drug development and empower patients, families, or motivated individuals who have the drive, ambition and funding to develop treatments for rare and ultra-rare diseases.

Ramesh spoke to Clinical Omics Senior Editor, Helen Albert, about his inspiration for starting the new Foundation and his hope and plans for its development.

What inspired you to start the Open Treatments Foundation?

The whole journey started with my son, who has an ultra-rare genetic condition due to a mutation in a gene called GPX4. We were going through a lot of processes to try and find a treatment for him, mainly focused on drug repurposing, and then focused on gene replacement therapy. But when we came to gene replacement therapy, we realized that the problem was much more complicated… The advice and the support that I was getting was not anywhere close to what would be necessary for me to get to a treatment. I was looking at this problem and asking myself the question, ‘If I don’t drive therapy development for my son’s condition, then who will?’ And the answer is no-one, because with just nine patients worldwide with this disease, no-one is really interested in even driving therapy development. We wanted to help other patients and patient families that are in a similar situation, which led me to build a software platform to help patient foundations build treatments using gene replacement therapy.

Where did the ideas for the specifics of the Open Treatments platform come from?

We identified four pillars that the patient foundations need to advance new therapies forward. First, creating a roadmap for therapy development to explain what are the first steps? What models do you need when you build a gene replacement therapy? What data do you need? What design do you need? How do you manufacture this? And all of the things are presented as a part of this roadmap. Second, connecting patient foundations to the right people necessary to advance their programs forward. The third part is the infrastructure piece, which is connecting them with the right contract research organizations and manufacturing facilities and biotech companies or universities that can provide the physical brick and mortar infrastructure to run the scientific experiments. The fourth part is obviously funding, because without funding, none of these moves forward. The Open Treatments Foundation will provide the first three pillars. And our hope is that eventually we will be able to attract funding from bigger funding sources to help the foundations make progress with the fourth.

Why is this a needed resource in the rare disease space?

There are a lot of patient foundations that are just getting started. They have some money, but they don’t know exactly how to get a therapy to the stage where a company would license it and take it forward. If you look at the patient foundations that exist today, all of them do activities based on the information they get, but don’t quite know if the information they get is accurate, is the right information, or if they’re making the right progress or not. So, the platform is necessary today, because we want to help these patient foundations be the future that that creates therapies that will get approved. There are many initiatives that are tackling this problem from a variety of different angles. The Open Treatments approach is to attack the drug development process and chop it into palatable chunks and provide these to patient foundations as a part of the software platform.

Can you tell me what you’re hoping to achieve at the foundation and what you’ve achieved so far?

We launched at the end of March, we started with four patient foundations that joined the pilot program. We have the software platform nearly built and we are working with these patient foundations to understand what other capabilities they will need. One capability we have identified is the is the need for providing access to experts in the drug development process. So, I’m establishing a consulting team that can work with the patient foundations, and provide support and advice when it comes to drug development.  I’m trying to figure out a model where we can have a consulting team that can help patient foundations make decisions, but also have some ownership on the outcome of those decisions. The next thing that’s coming down the pipeline is this idea of helping patients, or helping foundations, discover other patients. Because, as I found, the more patients you have in your disease group, the more defensible you look in front of a biotech company, and the more attractive the problem becomes. Yet, there’s just no tool that exists for it, so that’s another initiative that I’m working on.

Why have you focused on empowering patient groups?

In the long run, you do not want patients or patient families to be driving research. Personally, I’d rather take care of my son and help him in any way I can and lead a more relaxed life right now, than experience the stress that I’m going through. But eventually, you do need a lot more drug developers in the market. The number of folks that are getting into drug development today is far too small. We probably need 10 or even 20 times more than that. If you think about the number of diseases we have, the subtypes these diseases have, and the nuances involved, there is unlikely to be one big company like Pfizer, Novartis, or Roche solve all of these problems, they just cannot. And so, you do need more people that think about these problems in a variety of ways, based on the background they have, on the access to the network of people and capital they have, and so on, to come into drug development. That’s my eventual goal, to get more people into drug development. I’m starting by decentralizing drug development, and getting patient foundations interested in it first, because they are the ones that are motivated today. Eventually once you have a platform that’s robust enough, we can get more people that are experts in drug development involved.

What responses have you had from experts and from industrial and academic researchers working in rare diseases?  

I’ve gotten really positive responses from a lot of people with this idea. The folks that do believe in the idea end up working with us in some capacity or the other. There are folks that do think it’s too risky. Primarily, because patient foundations don’t have the resources, the scientific resources and the leadership resources, to actually advance drug development. And that’s precisely the problem I’m trying to solve! But I think overall, the response has been enormously positive. Everybody believes that something of this nature needs to exist. How it will come to existence is still a question. We are taking one approach; we’ll see how far it goes. But then, you know, at the end of the day, the principle or the mental model behind our foundation is solid, which is decentralizing drug development and getting more people into drug development. How do you actually get to that vision? We’ll see.

How has the funding journey for Open Treatments been so far?

It’s currently happening. We are in the process of fundraising, and talking to a lot a lot of companies and nonprofit organizations. Folks are responding largely positively at this point. I’m talking to biotech’s, because they have a huge interest in helping more patient foundations, and they just don’t have the right means to do it yet. It could also translate to therapies at the end of the day if you can do it right. There are some companies that are interested in funding us now and in helping us grow. And some more companies will join us once we get to a certain scale and there is also interest from other nonprofit groups.

What’s your vision for open treatments five years from now, if everything goes to plan?

I don’t think everything will go to plan! I’m not banking on that. And I don’t even think five years is a reasonable timeframe. For me, I’m looking at the 20-year horizon.  I’m looking at mechanisms by which we can bring a lot of patients, a lot of people to drug development. That’s it. So, what would the world look like if we had 10 times more drug developers than we have today? And what tools and infrastructures do we need to support them? That’s the vision that I’m going after.

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