Page URL:

Patient organisations challenge process for accessing orphan and ultra orphan medicines in Wales

30 June 2014
By Emma Hughes
Director of Development for Wales, Genetic Alliance UK
Appeared in BioNews 760

In Wales, the subject of access to medicines has recently been in the spotlight with the Minister for Health and Social Services, Mark Drakeford announcing reviews into the appraisal process for orphan and ultra orphan medicines and most recently the Individual Patient Funding Request (IPFR) process.

A rare disease is defined by the EU as affecting fewer than five in 10,000 of the general population (1). Patient populations of single rare conditions are small. There are however many thousands of rare diseases affecting the European population: estimates vary but most put the figure somewhere between 6,000 and 8,000 (2, 3). There are no precise figures on the amount of people affected by rare diseases in Wales because this data is not collected, but best estimates suggest that one in 17 people will be affected by a rare disease at some point in their lives. This amounts to 175,000 people in Wales.

The vast majority of rare diseases have neither a cure nor an effective treatment that is able to arrest the progress of the disease. Many rare diseases are severe and life-limiting, either in terms of length of life, quality of life, or both. For families, the combination of disease severity (that their family member is very ill), and rarity of the condition (that very few people are going through the same experience or are able to empathise) is very difficult to deal with.

The magnified impact of rare diseases upon patients and families raises the significance of innovative treatments arriving on the horizon. It is imperative that these potential cures and treatments are made available in Wales, for the benefit of patients, their families and wider society.

It has been highlighted in a recent report (4) that many approved orphan drugs have not gone through a national assessment and can only be accessed by patients in Wales through making an IPFR. Treatments that are accessed by patients via IPFR will only potentially be funded in cases where a patient population can demonstrate its 'exceptionality'.

The 'exceptionality' criteria pose one of the most challenging issues for patients, carers and health professionals affected by rare diseases. For more common illnesses, it may be possible to identify a subset of patients within the larger population who are more likely to respond to a particular therapy. This subset is defined as 'exceptional' and are eligible for the IPFR process. For patients with rare diseases, demonstrating that you are a 'unique' patient when you are already part of a small group of patients whose condition is considered rare is practically impossible.

The onus is on the clinician to provide evidence that the patient's clinical condition is significantly different to the general population of patients with the same condition and as a result is likely to gain significantly more benefit from the intervention than might normally be expected. We would suggest that this definition of clinical 'exceptionality' is too onerous to apply to patients with a rare or ultra-rare condition. Due to small patient numbers within rare disease populations, it is extremely difficult to provide evidence to satisfy these criteria.

Genetic Alliance UK and member organisations have come together to highlight this flaw in the process to the National Assembly for Wales through an online petition. We are calling on the National Assembly to review the use of the 'exceptionality' rule in determining whether a patient can access a treatment through the IPFR process.

We will highlight that patients with great clinical need are being prevented from gaining access to transformational medicines which may be life-changing/life-saving. The exceptionality criteria are the same in Wales as they are currently for NHS England's Individual Funding Request process. Genetic Alliance UK is concerned that there is a pattern of problems in these processes across the UK that need to be addressed.

The petition is currently open for signature until 7th July.

To support our campaign to review the use of the exceptionality criteria within the IPFR process, the petition is available for signature here.

1) Council Recommendation on an action in the field of rare diseases
Official Journal of the European Union |  8 June 2009
2) Eurordis - About Rare Diseases
EURORDIS - Rare Diseases Europe |  27 October 2021
3) NIH - The Genetic and Rare Diseases Information Center
NIH RePORT |  27 October 2021
4) Leela Barham (2012) 'Orphan Medicines: Special treatment required?' |  27 October 2021
21 July 2014 - by Dr Sarah Testori 
Genetic Alliance UK held its annual conference to discuss and reflect on the advances in genomic sequencing and to ask (and answer) why is it important, and how can it help to improve disease treatment...
23 June 2014 - by Dr Anna Cauldwell 
Two patients with the serious inherited blood disorder beta-thalassemia have been able to stop blood transfusions 12 days after receiving experimental gene therapy...
30 July 2012 - by Dr Rosie Morley 
The European Medicines Agency has recommended European Union market approval for a gene therapy, Glybera, to treat patients with severe cases of a rare genetic condition called lipoprotein lipase deficiency...
17 August 2009 - by Alastair Kent 
Rare Disease UK is a national alliance of key stakeholders including patient organisations, industry, clinicians, academics and individuals bought together to call for a response to the unmet care needs of those with rare diseases who currently struggle to get access to integrated care and support from the National Health Service (NHS). There are over 6000 rare diseases affecting over 3.5 million people (one in 17) in the UK...
to add a Comment.

By posting a comment you agree to abide by the BioNews terms and conditions

Syndicate this story - click here to enquire about using this story.