Overcoming barriers in rare diseases
pharmafile | June 22, 2015 | Feature | Manufacturing and Production, Medical Communications, Research and Development, Sales and Marketing | BIA, NHS, Shire, bates, government, nps, rare diseases
In recent months the focus on the need to develop new drugs and fund new treatments for rare diseases has intensified.
This has been stimulated in part by mega M&A deals that have seen big pharma firms snapping up smaller specialist outfits, to boost their credentials and pipelines in rare disease R&D.
Often pharma companies do look externally – to mergers, acquisitions and collaborations with other companies – to solve their internal problems and in that respect, rare diseases are no different.
In January Shire kicked off proceedings with its $5.2 billion purchase of NPS Pharma, to enhance for the former’s revenue and earnings growth profile – and boost Shire’s strategic desire to establish itself as a rare disease leader.
And more recently in May, rare disease specialist firm Alexion announced an even bigger deal, paying out $8.4 billion to buy fellow US orphan drug developer Synageva biopharmaceuticals.
They say the move will create pharma’s biggest rare disease pipeline, with around eight potential drug candidates for 11 rare disease indications, and more than 30 in the companies’ combined pre-clinical pipeline.
These kinds of figures underline the size of the gains for companies that can overcome the challenges that operating in this field inevitably brings. But when those inside pharma discuss these issues, the same well-rehearsed arguments are often presented, and have been for some time.
These include: funding and recruiting for clinical trials, gathering data for regulatory approval and gaining reimbursement and market access, to name just a few. But how close is the industry to addressing these tribulations, and getting closer to meaningful solutions for patients with these conditions?
Emmanuel Dulac, senior vice president of the rare diseases business unit at Shire, says the industry has taken big strides forward, but not yet far enough. “In these coming years the scientific advances in rare diseases will still largely depend on politics and our political will.
“Every rare disease drug in the field is game-changing because they provide a treatment where there was none before. Many address the symptoms but are not cures, and have not been specifically developed for their disease. So we now need more targeted treatments with new modes of treatment, and new devices to help improve the burden that these diseases bring.”
Following its acquisition of NPS Pharma, Dulac feels Shire is the best candidate to step up and meet the demand. “Our expertise is that we are very different from the rest of big pharma.
“Shire has been at the forefront since 2001, and made a decision in 2013 to accelerate its rare disease programme. We have made nine acquisitions since 2013 – I think that is fairly unique. We are aggressive and ambitious – the vast majority of the products in our pipeline are focused on rare disease – but we’re humble as well because there’s still a lot of work to do.
“Our aspiration is to be a global leader in rare disease; and to achieve this expansion by 2020. I think we are different as well through our focus on R&D, and our pipeline and our work with academic partnerships.”
Yet claiming leadership remains something of a Holy Grail for pharma, he says. “It’s difficult to claim leadership in an area with 7,000 diseases and for which the industry has only provided solutions for around 100. But versus other companies, we are highly focussed on rare diseases – like Fabry disease, Gaucher disease and Hunter’s syndrome.”
Stiff competition
In Fabry disease, a rare lysosomal storage disorder that affects 100,000 people worldwide, Shire faces competition from rivals including Sanofi. In April its subsidiary Genzyme received breakthrough designation from the FDA for the development of GZ/SAR402671, a new investigational oral therapy for Fabry disease.
The status means Sanofi could steal a march on Shire and others providing the Swiss firm with the opportunity to submit sections of a new drug application on a rolling basis, before submitting the complete application. Genzyme is currently enrolling patients in its Phase IIa trial of GZ/SAR402671, and plans to enrol nine treatment-naïve male adult patients with Fabry disease in this international, multi-centre study.
But even with the enthusiasm and willingness to splash the cash demonstrated by Shire and others, and new trials of rare disease drugs, it seems challenges similar to other disease areas still persist.
Market access remains a major obstacle for pharma companies operating in rare disease. In the UK, NHS England is seeking to engage pharma to come up with some practical solutions by holding a consultation on investing in specialised services – including rare and very rare diseases.
NHS England’s specialised services portfolio currently costs about £14 billion each year. This covers things like investment for NICE Technology Appraisals and the appraisals undertaken as part of the Highly Specialised Technologies Programme – but excludes treatments commissioned for rare cancers as part of the Cancer Drugs Fund.
New proposals for funding
As part of NHS England’s proposed principles for making commissioning decisions, the consultation document says that in general NHS England “may accord priority to treatments or interventions for rare conditions even where there is limited published evidence on clinical effectiveness, recognising that the rarity of the condition may make such data unavailable”.
But at the same time NHS England will also be able to “prioritise those treatments and interventions that demonstrate the greatest value for money”, it warns, and “only commission for those prioritised treatments and interventions that are affordable within its relevant budget, and those that enable resources to be released for reinvestment”.
The biopharma industry trade body, the BioIndustry Association (BIA), is sceptical of the NHS England proposals in their current form. It believes that the objective of ensuring access to treatments for patients with very rare diseases could be more effectively met by a separate and distinct framework.
The BIA response calls for one clear ‘fundamental requirement’; which is “a separate set of principles for considering the prioritisation of medicines and treatments for very rare diseases”.
“It is crucial that there are national fit for purpose frameworks for the evaluation and commissioning of medicines and treatments for rare diseases, which are separate and distinct. This should not be based on a blunt assessment of affordability but on the impact of treatment on the unmet medical need, burden of illness and impact on patients and carers.”
Seperate and distinct process for rare diseases
NHS England is a commissioning, and not an evaluation body, BIA chief executive Steve Bates argues, and as such should focus its efforts on this, not drug assessment.
He says: “A separate approach for rare and very rare diseases is essential because the small numbers involved introduce uncertainty into assessment and commissioning. Almost three quarters of the public agree that patients with a very rare disease should have the same access to treatments as patients with common diseases. This demonstrates the high importance the public place on equitable patient access, and the BIA believes the solution is for separate frameworks to be agreed and implemented.
“These treatments are often at the cutting edge of innovation. Ensuring that they are taken up rapidly in the NHS not only benefits patients but sends a signal to global biotech to utilise and invest in the UK’s R&D capability.” The BIA also has concerns about a suggestion to commission services only if a “treatment or intervention is a reasonable cost to the public”.
Similarly, the Association is ringing alarm bells over the proposal to only commission services within a ‘relevant budget’ – and if there is money released for reinvestment. They are perhaps right to be cautious. The Cancer Drugs Fund has evolved to the point where NHS England has decided to drop treatments from the Fund to create ‘headroom’ for newer ones to be added, and the BIA fears a similar situation could occur for rare disease treatments. It warns against “decisions being taken through a narrow budgetary prism”.
There are also practicalities to consider. In the NHS England proposals there is no provision for medicines not assessed under the single technology appraisal (STA) or highly specialised technologies (HST) processes. This is of particular concern to pharma given that NICE has estimated that it will only be able to carry out approximately three HST evaluations per year.
Also NHS England’s annual planning cycle results in a rigid cut-off point for new medicines to be assessed for the next financial year. This could mean that if an R&D timeline does not match the NHS England timelines, patients could wait nearly 24 months until they can gain access to that new medicine.
But pharma desperately needs new ways for new treatments for rare disease to be made available to patients, Dulac says.
“The traditional model of healthcare assessment does not apply to rare diseases. Cost modelling or risk assessment always fails with rare diseases. The authorities that have taken specific approaches have been very successful but without specific rare disease legislation it still fails. We have a big gap at the moment for rare diseases. Although in Europe it’s at the forefront there are a lot of improvements to do.
“I think everyone is trying their best but we all wish that it [rare drug approval] could be faster. We’re really still far away from the end goal.”
So far the best efforts of these different groups are still falling short of meeting the needs of patients with rare diseases.
Though there are encouraging signs and evidence of engagement between them, there must be a concerted effort between them and patients to move the rare disease field forward.
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