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Home » Rare diseases » It’s not that rare altogether: many rare disease patients need help

David Worthington

Field Medical Advisor, Rare Disease, CSL Vifor UK

Milos Petrovic

Medical Lead, Rare Disease UK, CSL Vifor UK

Joe Wildy

Head of External Affairs, CSL Vifor UK

A ‘rare disease’ is generally defined as a condition that is known to affect less than one in 2,000 people. However, there are over 7,000 possible rare diseases for which patients may need help. 

“In the UK, there are over 3 million people living with one of a plethora of different rare diseases. So while, by definition, some diseases affect only a small number of people, totality of people affected is significant,” explains David Worthington, Field Medical Advisor for Rare Disease at CSL Vifor UK.  

“Patient focus is at the heart of what we do and is one of our core values.” Also, David adds: “We want to be a partner for our healthcare community not just by being a medicines manufacturer, but by working with patient groups, as well as the NHS in the UK.” 

Partnering with rare disease patients  

CSL Vifor UK actively works with patients’ organisations by helping them become aware of advances in knowledge about rare diseases and their management. They also collaborate with partners in the rare disease community at a local and global level to develop resources relevant to patients, carers and anyone affected by these conditions. 

To successfully support the rare disease communities, the health system needs to recognise the benefit and value of different disease management solutions — either through therapeutic interventions, uptake of technologies or access to care.  

Once researchers come up with a good idea,
pharmaceutical companies can come
in to help continue the work.

David Worthington

Pace of clinical trials and innovation 

Milos Petrovic, the company’s UK Medical Lead for Rare Diseases says: “In the last 15 years or so, there have been major technological advances, such as genetic testing and population studies — made possible in part by better use of computing power and advances in genomic research.” 

“Combined with the advances in basic sciences, this means we are now beginning to understand some of the specifics of how a certain rare disease affects the immune system, for example. This is crucial for studying the initiation and progression of the disease,” adds Petrovic. 

“Once researchers come up with a good idea, pharmaceutical companies can come in to help continue the work,” says Worthington. “We support the clinical development of potential products to assess whether they may become medicines. As a company, our pipeline of products focuses on rare diseases which are autoimmune in nature and often involve the kidney in one way or another.” 

Data-gathering difficulties 

With over 30 million people across Europe living with various rare diseases, there is a lot of information to be gathered and shared. Understanding each rare disease and how it manifests in each person affected is crucial to helping health practitioners understand them.  

Worthington says that part of the problem in supporting rare disease patients is gathering data. “For example, we’ve been supporting a project looking into rare vasculitis by identifying how registries across Europe can be interrogated to increase the number of patients available for meaningful research — to discover missing facts and develop better predictive tools to help doctors choose the best options for individual patients.” 

Regulatory approval 

Once new medicines obtain regulatory approval, for them to become accessible to patients, it is necessary to assess the medicines’ cost-effectiveness.  

Joe Wildy, Head of External Affairs at CSL Vifor UK, says: “It’s challenging for Health Technology Assessment (HTA) bodies to make concrete decisions around the cost-effectiveness of medicines for rare diseases.

There is a small number of patients involved in clinical trials, compared to other diseases which HTA bodies are more used to looking at. It is harder for them to make clear decisions on cost-effectiveness with less data. Hence, it is paramount that the patient’s voices come through clearly in the decision-making process.”

“Because the regulators continue to create an environment where research into new drugs is encouraged, we will be able to continue working together with patients’ organisations, clinicians, researchers, the NHS and drugs manufacturers to help ensure that there are effective interventions for the rare disease community,” concludes Worthington. 

February 2023

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