Read the Conversation
Conversation highlights:
- Driving Innovation and Patient Value in Mexico: Ultragenyx Mexico continues to lead as the only region in the world with patients on commercial therapy across the company’s entire commercial portfolio, delivering innovative treatments and meaningful value to patients with rare diseases.
- Emphasis on Medical Education and Early Diagnosis: A core focus is educating healthcare professionals to improve early diagnosis rates, enabling timely and precise treatment interventions.
- Strengthening Diagnostic Support: The company is committed to supporting accurate diagnostics to ensure patients receive the correct diagnosis and optimal treatment, recognizing diagnostics as a critical component of patient access pathways.
- Differentiating Access for Orphan Drugs: Ultragenyx advocates for a distinct access process for orphan drugs, reflecting their unique clinical and economic profile within the healthcare system.
- Advancing Gene Therapies and AI Integration: Collaboration with key stakeholders—including COFEPRIS and payers—is underway to leverage gene therapies alongside AI technologies, enhancing disease detection, treatment monitoring, and awareness generation.
- Transforming Orphan Drug Treatment: Efforts are focused on transitioning from chronic management to one-time treatment possibilities for rare diseases through cutting-edge orphan drug development.
- Exciting Pipeline Outlook: The company anticipates significant growth driven by a robust pipeline of gene therapies and orphan drugs, poised to impact patient lives and expand access over the coming years.
EF: You are celebrating 6 years with Ultragenyx. You set up operations in the country and have been advocating for rare diseases as part of the national agenda. Looking back, what stands out most from these six years? What are you most proud of?
NL: The balance has been quite positive, even above expectations. There has been strong adoption from the government, and I would applaud the institutions and stakeholders in the healthcare space. They have understood both the value of innovation and the unmet medical needs our therapies address for these patients who have no other alternatives or treatments.
I think once you tell this story, there is an openness we are now seeing in the different institutions. When you bring these kinds of therapies to the market, to the patients, and to them, and you show the value to the patient, they are more receptive. In the past, it was harder, and of course, there is still a long way to go. We are still fighting against long timelines, but I am happy to say that today, after six years, we have brought four therapies to Mexico with regulatory approval, three of them already included in the ‘Compendio Nacional de Insumos para la Salud’ and being delivered to patients in Mexico.
Last year, Mexico became the only region in the world with patients on commercial therapy across the entire commercial portfolio of Ultragenyx. So Mexico has been delivering on serving patients, and that has had a lot to do with all the stakeholders moving within the healthcare system. There are still many challenges, such as distribution, purchasing, and contracting, but I think we are moving in the right direction. I think there has been a lot of progress.
EF: This is fascinating, the fact that you have managed to win that commercial framework, with your full portfolio, and Mexico being the first country to achieve this. What do you attribute that to? Is it collaboration? An open mindset? A case-by-case effort? Do you see it as sustainable, or was it more of a one-off situation?
NL: It is a combination of elements, but mostly it relates to the fact that we have very well-developed and unique solutions for unmet medical needs. When you bring innovation to cases where no other options are available, where therapies are substandard or only palliative, you are really delivering life-changing treatments. The innovation we bring to the market is phenomenal.
The second part is creating and sharing the success stories of patients. Patients who were living with debilitating chronic rare diseases can now return to a more normal life, being socially and emotionally reintegrated into their communities. When you put these stories together and bring them to the regulatory agency, while also demonstrating the efficacy and safety of the product and being responsible with pricing, it makes an impact. These three elements help us bring these therapies to the market.
EF: Do you think Mexico, considering what you have just mentioned, can be a reference model for rare disease market access and innovation, one that could be translated or replicated regionally or in other places?
NL: There is still a lot of complexity in the framework as a whole. A study published by IQVIA in the past couple of years showed that the time to access orphan drugs in Mexico is still very long, over five to six years from U.S. FDA or EU EMA approval to patients actually receiving treatment or therapies being included in government formularies. The process is very bureaucratic, going through regulatory approval, then institutional formularies, then fighting for budgeting, and then fighting for inclusion in annual consolidated purchase processes.
There are still many opportunities to streamline the process, create more clarity, and shorten the time to access. But I think there are positive changes happening. The concept of universal healthcare availability has seen progress. We have been able to deliver therapies across government institutions. So, as a concept, broader healthcare access is improving, but the actual time to access is still very long.
EF: How do you identify more patients and ensure access to diagnostics? I am referring specifically to this, not the overall process, since it seems you already have a foot in the door. What challenges do you face in Mexico?
NL: I think that is still one of the big questions; it is an area where biotech companies need to collaborate with the government. One of the things we usually do is provide diagnostic support for public institutions, making it available for a few diseases. For example, in Mexico, we offer a panel for differential diagnosis of XLH. It is not only a diagnostic test for XLH, for which we have a therapy, but rather for 10 to 12 possible conditions. So even if it is not XLH, the patient may get another diagnosis, and in the end, they benefit by receiving a diagnosis.
This is the kind of collaboration we support, not only at Ultragenyx but also in the rare disease space. We know that having broad molecular testing available in the public system is not easy in Mexico or in Latin America. That is why we believe supporting diagnostic and molecular testing is important. It helps patients access a diagnosis, and it also ensures that if a patient receives treatment, there is a genetic test to confirm the diagnosis. That is what we have put together, and it forms the technical part of our diagnostics program.
Another major investment we make as companies is in medical education. Once we start talking about a specific disease, we go around the country, working with medical associations, experts, and physicians to help them understand it.
From my experience in rare diseases, it used to seem logical to target geneticists first, assuming that patients would eventually be referred to them. But in reality, the geneticist is usually the final step. These specialists already know their diseases well, so there is less need for education there. Instead, we have to go one step earlier to the specialists who first encounter the patients. For example, if a rare disease overlaps with endocrinology, we need to engage endocrinologists and talk to them about differential diagnosis in their space.
A lot of the education we do is aimed at specialists, helping them see within their framework where they might be missing patients and how they can identify rare conditions through differential diagnosis. Then we need to go further back to primary care physicians, pediatricians, and GPs. Ideally, every pediatrician would have a set of diagnostic tools to identify when something might be rare and quickly refer the patient to a specialist or geneticist. That is not the reality yet, but it is part of the education we provide to support diagnostics.
I really want to emphasize the importance of having the correct patient treated with the support of diagnostics. You need to make sure the diagnosis is confirmed at the molecular level with genetic testing. That way, the treatment is connected to the right patient, leading to better outcomes and the full benefit of the treatment. It also reassures payers that their investment is being used correctly.
I want to highlight a critical step in the access process, at least in Mexico. This is something we believe has room for improvement, and it relates to how you get incorporated into the medical formularies, in the Compendio Nacional de Insumos para la Salud.
In our economic model, we expect to treat only a handful of patients. But the criteria to incorporate a therapy within the public system are designed based on a “ volume “ basis, or the number of patients that need the therapy. As the ‘Consejo de Salubridad General” assesses together with the different institutions the need for this therapy, the low number of patients with the perceived necessity of the drug, at a certain point, may not have enough critical mass across the institutions to say, yes, there is a need, we have patients and no treatment.
So I think this also ties in and shows why it is still very challenging to get through that part of the market access process. The process is the same for oncology and for vaccines. It is not designed for a small number or a small population of patients. If diagnostics are not in place at the moment a patient is identified and confirmed across the institutions when they are voting on incorporating a drug, then the drug is excluded. That is why the diagnostics piece is so important to the access process. I think we should push the government to have a differentiated inclusion process for orphan drugs.
EF: What have you identified as a key to success?
NL: When you think about Mexico as a whole, there are rare disease patients across all diseases. The genetic diversity is there, and in some regions, there is a lot of endogamy, which leads to more manifestations of genetic diseases. So, usually, when engaging with different specialties in Mexico, you do find patients who are in need of specialty therapies.
EF: Each country has the data of its population, and it should be treated as a national resource. The question is how to identify this information, give it value, and build the right data architecture to fully understand and use it. How would you rate the level of awareness, or even whether this is considered important, within the medical system?
NL: Gene therapies in Mexico are still a complex topic. There have been discussions, and they have been promoted not only by us but also by other R&D pharma companies, with AMIIF in particular engaging stakeholders to start talking about this future and present, when it comes to gene and advanced therapies.
One important step underway is a collaboration with COFEPRIS to put together a regulatory framework that clearly defines and enables the introduction of these therapies in Mexico. Right now, the experience we have is mostly through orphan drug approvals. But the question is, what happens if in the future you have a gene therapy that does not intersect with an orphan drug? Currently, there is no specific pathway for that. This is why COFEPRIS wants to make sure there is a proper framework in place to bring these therapies into the country. That is the first point.
The second one is around awareness. These products bring a lot of complexity. When you talk about manufacturing, the cost is really high. When you talk about distribution, it often means sending only several vials to a country for a specific patient. So, instead of bulk shipments, you are moving just a handful of vials, usually in ultra-cold chains, which adds another layer of complexity to the process.
A lot of these therapies are derived from viral vectors, so if the patient has antibodies to those viral vectors, you need to screen for that first, and these are usually common viruses. So there are many aspects we need to address and really engage in discussions with the medical community, with payers, and even with the whole supply chain to make sure we have an ecosystem that is ready to bring these kinds of therapies.
The other part is obviously the payers. We are talking about high-cost therapies and platforms today. Eventually, as this new generation of drug development progresses, costs will go down, but today, the cost per vial is still pretty high.
When discussing with payers and exploring pay-per-performance or innovative payment models, the question is whether these approaches are suitable for these therapies. Many gene therapies aim to fix a genetic defect with just one or two doses, rather than requiring long-term treatment. So the challenge is how to ensure that payers get the benefit of the therapy without creating a huge impact on their yearly P&L. That is a big question that still needs answers.
We are not there yet. There is still a lot of discussion, and answers are needed soon. Ultragenyx has a rich gene therapy pipeline. As we start getting approvals and move forward, we want to bring these therapies to Mexico, most of which are for diseases that currently have no other options. The conversation is starting, and the regulatory agency is starting to catch up, but we still need further discussions with more stakeholders, including payers.
EF: Is there something you are particularly excited about with regard to gene therapies?
NL: I have been able to learn a bit about the science behind it, and I think it is fascinating. I have been working with orphan drugs for almost 20 years, and usually these are chronic, long-term, high-cost treatments. Now, with new technologies, a patient might only need a single procedure to fix the genetic problem. For me, this is moving science fiction into reality.
Even with a very successful treatment today, there is still a burden on the patient, coming in twice a month for an infusion or needing a home infusion. Chronic management is still challenging. If you can remove that burden, it is truly fascinating. This approach could also open the door to new science for other therapies and genetic conditions, and perhaps even expand beyond orphan drugs to more diseases.
EF: Two to three years from now, what can we expect from Ultragenyx Mexico? You are also overseeing Central America, so what can we expect from you and the strategic importance of your region to Ultragenyx?
NL: So Mexico is definitely, within Latam, one of the countries with great potential. I think, and I am being optimistic, that within the second year of President Sheinbaum’s administration, healthcare is going to continue improving. This year, they had to manage a lot of transition complexity, particularly in the purchase processes. That has been a challenge for us, but I think they have a good view on how to improve this. For Mexico, we want to continue bringing the second wave of therapies after FDA or EMA approval.
Looking at the Ultragenyx pipeline over the next couple of years, we hope to bring many therapies to market. Depending on the finalization of studies, approvals, and trials, we want to be in the second wave for most of them. We have identified patients for many products in the pipeline, patients who are waiting for help in the short term.
In Central America, the landscape is still complicated. We are serving some XLH patients and finding additional patients, but the policy around orphan drugs and access is still behind. It is a complicated market, but we continue supporting diagnostics and working with authorities to get patients under treatment.
Regarding AI, even with the boom, you really want to see how things settle down and what solutions actually work. There is something I found very interesting. It was developed by an engineer from Microsoft who has a child with a rare disease. It is an AI tool for primary care physicians to help diagnose rare diseases. It is free and can be deployed to primary care physicians. When you are with a patient, you fill out their history and symptoms, and the algorithm runs, crosses the information, and gives you a handful of potential diagnoses. I think this is a powerful tool that new physicians will have in their pocket, helping to strengthen their diagnostic framework.
Another part of health policy in Mexico that is interesting and ties into AI is the electronic health record. They want to start accelerating and broadening the reach of electronic records. With standardized data, it will be interesting to develop algorithms that can search databases, cross-check symptoms, findings, and lab results, and identify patients who may have been misdiagnosed or are still waiting for a diagnosis. That could be very positive. Another area is drug development with AI. I am not an expert in that part, but there is a lot of discussion about how AI can support R&D.
It has been interesting, fun, and the growth is there. At the end of the day, one of the milestones we reached this year was having over 100 patients in Mexico on one of our treatments. I remember being there with the physician for the very first patient, the delivery, the challenges of sending that vial, the whole process. And now, looking back, we have more than 100 patients. These are not just numbers. They are stories, studies at INP, experiences in public and private hospitals, patients in Chiapas, Monterrey, Tijuana, and most importantly, families. When you look back at that journey, you really see the impact.
