From diagnosis to treatment, patients with rare diseases suffer from various challenges. Rare diseases are diseases that affect a small number of people compared to the general population.
To date, six to seven thousand rare diseases have been discovered and new diseases are regularly described in medical literature. Diagnosing and treating rare diseases is extremely complex. However, various pharmaceutical companies like Sanofi have played a crucial role in the development of the drugs for rare diseases.
The French drugmakers have launched groundbreaking medicines for Gaucher disease, Pompe disease, Fabry disease, mucopolysaccharidosis I (MPS I) and acid sphingomyelinase deficiency (ASMD) globally.
India has over 450 types of rare diseases but lack of awareness and stigma have aggravated the pain of patients suffering from them. In an interaction with Financial Express.com, Anil Raina, General Manager, Sanofi Specialty Care, India talked about how the landscape of rare diseases has evolved in India, the company’s upcoming plans for the India market, key drug launches and more. Excerpts:
According to you how has the landscape of rare disorders has evolved over the years, especially with respect to treatment and management?
When I started in this space, you know, professionally in 2007 there was very limited awareness on rare diseases. Over the years, what we saw is because of a lot of the drugs that we brought into this space. What we also did was we started a charitable access program and an official charitable access program for India. Our charitable access program traces its footprints to 1999 in India when the first patient started receiving treatment for Gaucher disease from Mumbai. So that makes it 25 years for our charitable access program in India. But officially, we had a charitable access program starting in 2007 September called the India Charitable Access Program. This was our first charitable access program, in which all our first four treatments were made available to the patients in the country. The beauty of the program was that this was managed by physicians who are based out of India.
Globally, the rare disease day started in 2008 in India, was actually in 2010. So that was also the launch of the patients’ society in a way. And over the years, we’ve been very fortunate to have had quite a few celebrities associated with this cause of rare diseases. You know these were all because people who came here on board were they wanted to do something about people with such rare disorders.
What are the challenges that still exist with respect to this landscape, especially in a country like India?
A person may have that rare disorder but they may be treated symptomatically for something else. There is what is known as a diagnostic odyssey for a patient and it could go on anywhere from five years to 15-20 years for a patient, depending on the kind of disease the patient has. There are some diseases for which people get diagnosed pretty quickly in India. But there are also some diseases in which patients just don’t get diagnosed like Pompe. So, awareness is definitely the big challenge for the patients as well as for the doctors. Also, there are very few doctors who specialize in this. Keeping this in mind, what we did as an organization was we started our free diagnostic program in 2013. It is called Disha under which close to 6000 odd patients’ samples have been sent for diagnosis over the years, timidly to build capacity of doctors.
We worked with the Society for the Indian Academy of Medical Genetics to start a three-month fellowship program so that there are more pediatricians, and more specialists who know genetics. So these are some of the things which have happened over there. Then there are more patient organizations which have come up like and ORDI, which has come up, which is more like an umbrella organization. And then for other disorders, there are other organizations like a Cure SMA, which focuses essentially on SMA.
Sanofi has been a key player globally in this particular segment. What are the challenges that a pharmaceutical company faces when they are developing a drug for rare diseases, especially in a country like India? How these challenges can be addressed?
Whenever you’re developing a drug, firstly you find the right candidate. Finding patients for that particular drug could also be a challenge because there could be inclusion, and exclusion criteria, and the right centers where the patients could come and take the therapy regularly. I’m talking more from an Indian point of view here. There is a cost associated with developing that drug. How many people are willing to put in that money to develop a new drug that also is a challenge? So if we want innovators to come in the patent has to be granted to the innovator for such medicines, so that more and more companies come in and invest in the R&D space in India.
How is Sanofi looking at India as a market and also what are your upcoming plans for the segment in India?
Sanofi is committed to India as a market. It’s been almost 12-13 years since our products have been available in the market and more than that on charitable access from a charitable program basis, they are available from almost 25 years. We are also doing clinical trials in the market. We have been working with different stakeholders across the country to build these capacities to address the issues faced by patients and physicians as well. We set up the first center of excellence in India and we worked with multiple hospitals to set up these centers of excellence in private sector as well as public sector. When we started out globally in this space, there was a reason why nobody invested in rare diseases. We collaborated with the National Institute of Health in Washington to develop the first therapy for Gaucher disease and the results were astounding. This is how the access landscape globally has also changed. But for us from a commitment point of view, definitely that commitment has been there.
What are some of the rare diseases that you are focusing on right now, especially in India? Also, with respect to product launches, are there any plans for FY25?
We’ve been focusing majorly on four rare disease areas in India- Gaucher disease, Pompe disease, Fabry disease, and Mucopolysaccharidosis type I (MPS I). And now we are just entering into the 5th disease area in India, that is Acid Sphingomyelinase Deficiency ASMD), also termed as Niemann-Pick disease. We’ll be launching our drug, Xenpozyme, in India for the treatment of ASMD in the later part of this year.
So you are entering ASMD for the India market specifically? Or is it globally also?
Globally, we entered in the ASMD segment in 2022. So the product will be launched in India in later part of this year. So this is going to be our first launch in a new disease area after many years. The last one was for Myozyme.
So what are some of the upcoming business growth plans for, especially in the Sanofi Specialty Care segment? And what are your expectations from FY25?
We are moving into newer areas as far as Sanofi Specialty care is concerned. We are exploring hemophilia, and rare blood disorders, then Dupilumab is there, which is a big product for us globally. We’re looking for that as well in India also. And then we’re doing a lot of clinical trials in India for areas where they’re unmet medical need in India.
20 clinical trials are being done in India by Sanofi right now, we’ve accelerated the pace of our clinical trials in India so that we have an opportunity to launch these products as and when we get the approvals.
How we can make sure that you know the patient outcome is also maintained and somehow it gets easier on their pockets too?
So one thing that we have to remember in these therapies is how we have to actually look into the background of these disorders. Why were these called orphan drugs? Or you know, why are these diseases called rare diseases? They were called orphan drugs because nobody wanted to develop these medicines and their reason for not developing these medicines was because the number of patients who got affected with these conditions was very few.
So when we are talking about these diseases, there is also a factor of research and innovation and of course, economics is also a lot of there. So how is if you could highlight how Sanofi is navigating through this space? How are you looking at it from a futuristic perspective?
From an R&D point of view, we are investing heavily in R&D. We are a research-based organization, so we are looking at newer products as well as disease areas where we could get into as an organization. We are looking at a product which is an oral therapy. So that is a shift from the current therapy that we have, which is more of more of an enzyme replacement therapy. So let us see what happens there. There could be other projects that the R&D team would be working on in the rare disease space, so you know that that that balance obviously has to be maintained because we can’t be there at the same place where we were ten years or 15 years back. We have one more product in the Pompe space which we shall be launching in another year or a year and a half. So India is there on the horizon for us.
