RARE - Thomas Topini 

RARE - Thomas Topini 
by Laura Hulley
October 11, 2023
7 mins
RARE - Thomas Topini 

On this episode of RARE, Laura welcomed Thomas Topini. Thomas is a bio-pharma Executive with more than 20 years of cross-functional experience having progressed through several companies such as Chiesi, Alexion, GW and his most recent position has been as General Manager in Italy of rare disease company, Albireo Pharma who were acquired by Ipsen at the beginning of the year. 





Thomas’ career started 20 years ago, he quickly discovered a passion for working with rare diseases, when he joined Chiesi and was exposed to delivering treatments for Cystic Fibrosis. He followed that passion throughout his career as he found that rare disease is a very specific space and a very holistic area made up of a combination of scientific and commercial activities as well as patient advocacy. 


When asked about the evolution of the relationship between pharma and biotech companies with patient advocacy groups, Thomas goes on to comment about how each company has its own DNA which impacts the way they interact with PAGs and how it also depends a lot on what rare disease you are talking about. You might be dealing with a new rare disease where there is no treatment available and there is perhaps a diagnostic issue, or if for example the disease is more well known, it might be more about supporting them where the patient organization is very structured. Thomas had the chance to work in Cystic Fibrosis, working closely with patient advocacy groups that were very structured, for example, the Cystic Fibrosis Foundation, they have a lot of representation and work with companies to develop a plan to achieve common goals. Thomas elaborates and goes on to explain that when you work within a new disease area, you really need to work with PAGs to become advocates where it might be difficult to separate from being a patient, or a parent or carer, and moving towards working in a way that is more structured to achieve something that is appropriate and needed. 


We then go on to speak about why this is so important in the rare disease space. Thomas talks about what he calls ‘the triangle’ – you have the company, the patient advocacy groups and you have the physicians/other stakeholders. In reality, you really need to work with the patients and the physicians because usually, patients go directly to the physician before a physician is even aware of a new treatment, and so it is really important to help patients and physicians to speak the same language. This is so important because often patients could be representing themselves to the physician for access to a treatment. They could then help you as a pharma company, with the access and reimbursement challenges they see for a product and so they become partners. They have a legitimate interest in the product to get it to the patient and so they ultimately help with challenges in getting a rare disease product to the market. 


We then went on to discuss how this will evolve further with the increase in innovative therapies such as gene therapies. Thomas talks about how patients are more and more educated. They know what they’re talking about and information is more readily available. The relationship will have to evolve further because sometimes the desire is to cancel the disease altogether through these advanced therapeutic products, making it so important to set the right expectations on gene therapies. He goes on to explain how he thinks gene therapies are amazing but it is important to remember that diseases cannot be reversed if a patient is at a particular point in their development. These new therapies will fit very nicely into the organizing Patient Advocacy Groups to support patients with early identification. One of the important things about gene therapies is the sooner you treat, the better outcome you will get because you can really change and alter the course of a disease. He thinks that PAGs will start to be more active in identifying patients, helping companies find patients to be enrolled in the trials and be a key partner in the future development of rare disease drugs. 


I would like to take the time now to thank Thomas for taking the time to feature and share his thoughts.


If you have any questions or if you are interested in being featured on a future episode, please feel free to reach out to Laura at 


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