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Welcome to Rare Diseases

There are over 7,000 rare diseases in the world today and counting.¹ While these diseases may be individually rare they are collectively common, affecting approximately 3.5 million people in the UK alone.¹So if you don’t already know someone affected directly, you probably don’t need to speak to too many people before you will.

Select a therapy area below to find out more

Acromegaly

Definition of acromegaly, typical characteristics and diagnosis of this chronic disease

Explore Acromegaly

Growth Disorders

Understand more about these rare disorders and the support available

Explore Growth Disorders

Haemophilia

Learn more about this rare, lifelong condition requiring constant and careful management

Explore Haemophilia

Transthyretin Amyloid Cardiomyopathy (ATTR-CM)

Understand the causes of the disease plus current and emerging treatment strategies

Explore ATTR-CM

About Rare Diseases

Over the past decade scientific advances have increased our understanding of rare diseases and their underlying causes, enabling the development of treatment options. But today, only around 5% of rare diseases have a licensed treatment, this gap in care has spurred a sense of urgency within Pfizer Rare Disease - to find new, potentially life-changing approaches. ²

We're focused on the following areas; Haematology, Neurology, Amyloidosis, Pulmonology, Endocrinology and Nephrology. A key focus is advancing our gene therapy capabilities. We believe gene therapy has the potential to provide meaningful improvements in the lives of millions of people living with rare diseases, and we pride ourselves on being a leader in this space.

With rare diseases, patients are the true experts and we listen to, learn from, and work in close collaboration with patients at every stage - from R&D to treatment delivery. Every strategy, every decision is made with the patient in mind.

The Rare Disease Framework

The Rare Disease Framework is a policy document, published in 2021, by the UK Government and delivery partners across the healthcare industry with aims to ensure improvements are continually being made to the treatment, diagnosis and lives of people living with a rare disease in the UK. Defined as a condition which affects less than 1 in 2000 people³, rare diseases are estimated to impact over 5% of the UK population (approx. 3.5 million people)¹.

The framework is being developed in two phases, the first of which sets out four key priorities identified to relieve the challenges faced by the rare disease community. These include:

Priority 1: Helping patients get a final diagnosis faster
Priority 2: Increasing awareness of rare diseases among healthcare professionals
Priority 3: Better coordination of care
Priority 4: Improving access to treatment and specialist care

The second phase of the framework is ensuring each of the UK nations develop an action plan containing steps to meet the requirements of the framework with their own arrangements, best tailored to benefit their own populations. The wider rare disease community will also support action plans and will be under review every 1 – 2 years.¹

To achieve the outcomes for both phases, 5 ‘underpinning themes’ have been recognised to support the priorities of the framework and will act as key enablers to facilitate and maintain the framework objectives.

These priorities and underpinning themes have been identified and refined with the help of the National Conversation on Rare Diseases Survey seeking the views of patients, families, clinicians, researchers, and patient organisations in a programme of engagement to understand the challenges faced by those living and working with rare diseases.

The objectives placed in the Rare Disease Framework provide an opportunity to provide meaningful change for the rare disease community. By using the framework as a foundation for change, the quality of patients’ lives can continue to improve.

Please click on the link to view the full rare diseases framework policy document - The UK Rare Diseases Framework

2023 England Rare Diseases Action Plan Published

On 28th February 2023, the Department of Health and Social Care (DHSC) published its second Rare Diseases Action Plan for England to coincide with Rare Diseases Day. The Action Plan is divided into two sections (1. Progress from 2022 and 2. Priorities for 2023) and structured around the four priorities of the UK Rare Diseases Framework, and notes that progress on the ATMP strategic approach is ongoing. The DHSC will continue to monitor progress on actions and will work with the wider system, including industry, to develop metrics and methodology to measure the improvement of the lives of people living with Rare Diseases in the UK across the 4 priority areas.

The full Action Plan can be found here.

Progress from 2022 – key highlights: ⁴

During 2022, NHSE developed a map of programmes that promote access to drugs and are actively using a ‘preparedness template’ with industry to develop a shared understanding of the service implications for new drugs, approved by NICE, so patients benefit as early as possible
On the ATMP strategic approach, the progress report notes that this is ongoing. NHSE remains actively involved with ATMP Engage, the patient collaboration co-chaired by Genetic Alliance UK and the Cell and Gene Therapy Catapult. It says in establishing a structured approach to ATMP commissioning, NHSE has engaged with a range of stakeholders across industry, as well as individual patient groups and providers. Using horizon scanning, NHSE has also instigated structured proactive engagement with individual ATMP manufacturers 12 to 24 months prior to marketing authorisation. NHSE has said as this activity continues to iterate over time, there is no planned strategic publication that will accompany this work
An analytical approach has been developed to measure both the overall and geographical uptake of drugs for patients with rare diseases. This combines data from several sources, such as Blueteq and locally held NHSE systems

Priorities for 2023 – key highlights: ⁴

The DHSC will commission policy research through an NIHR open call to develop an effective method for measuring the time to diagnosis for both genetic and non-genetic rare conditions with input from the rare diseases community
To provide continued assurance of the high-quality of services for patients with rare diseases, NHSE will establish a Highly Specialised Services Programme Board (HSSPB), which will meet quarterly
NHSE, MHRA and NICE will review the impact of the Early Access to Medicines Scheme (EAMS), the Innovative Licensing and Access Pathway (ILAP) and the Innovative Medicines Fund (IMF), including their effectiveness in improving access to treatments for people living with rare diseases

The DHSC have said that over the course of the year, they will monitor the progress of these actions closely with delivery partners. A third Action Plan will be published in 2024, which will again report on progress against the actions set out in this Plan, as well as proposing updated and new actions.

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Ngenla®▼ (somatrogon)

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Genotropin® (somatropin)

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