The first sign of Duchenne Muscular Dystrophy (DMD) in the approximately 50,000 boys unlucky enough to have it is a delay in motor milestones. This delay will only worsen; these boys will never be able to run or jump. Their motor skills at age 7 will be as good as they will ever be. On average, they will lose the ability to walk by age 10. Eventually they will stop breathing on their own, and most will die before their 30th birthday.
There is no known cure for DMD, but one British boy’s affliction may be the catalyst needed to change that—and to help sufferers of other rare diseases as well. Ten-year-old Eli Crossley’s parents founded charity Duchenne UK after discovering that their son had DMD. Over the last five years, they’ve raised more than ten million pounds to help boys like Eli.
Now, hopes are high that Duchenne UK may be pioneering a revolution in Big Pharma’s approach to improving access to medicines for some of the world’s rarest diseases that could offer a valuable lifeline to patients desperate for a cure.
Ground-breaking partnership to help patients get lifesaving drugs faster
HERCULES (Health Economics & Outcomes Research Collaborative United Leading Evidence Synthesis) is a multi-company collaboration designed to accelerate the health technology assessment (HTA) process. To accomplish this, companies pool information to build better and more accurate modelling, generate a wider evidence base, and reduce time-consuming duplications that can delay time-to-market for niche medicines.
A total of seven high-profile companies, including pharma giants Pfizer and Roche, plus University of Oxford biotech specialist Summit, have agreed to share data that could lead to swifter and more effective treatments for a number of rare, yet debilitating conditions. It’s hoped that the creation of a single evidence base will enable international assessment agencies – including the UK’s National Institute of Health and Care Excellence (NICE) – to use the same data, no matter where they are in the world.
The hope is that HERCULES can help prevent tragic delays, such as that which occurred in the approval process of a drug that may help combat Duchenne by protecting against muscle damage. The medication, PTC Therapeutic’s Translarna, gained European regulatory approval in May 2014, but NICE took almost two years to agree to fund it, by which point some trial participants’ conditions had deteriorated so severely that they were no longer able to benefit from the drug.
By sharing available evidence and viable economic models, the seven companies involved in HERCULES can help find the quickest route from approval to funding. And the scheme has other advantages as well: because the pharmaceutical firms are collectively preparing evidence, they waste less resources and incur reduced costs when bringing a drug to market. It’s a win not only for patients, but also for the companies that develop the treatments. Meanwhile, Summit is currently partway through a second-stage study for DMD patients in the UK and US. Promising early results show a ‘clinically significant’ slowdown in muscle deterioration.
A new approach that could benefit people with other rare diseases – and beyond
It’s not just Duchenne patients who are facing unbearably long lead times for access to the treatments which could potentially save their lives. The Pharma Times recently estimated that rare conditions affect circa 30 million people in Europe – with 3.5 million sufferers in the UK alone. And yet only five percent of patients with rare diseases have access to a licensed treatment in the UK. Even when a licence is approved, delays throughout the HTA appraisals process are commonplace, leading to lengthy release schedules for many drugs. HERCULES’ umbrella approach to data submission will help to cut through duplications, aligning evidence and resulting in a more streamlined process that could be applied across a range of rare diseases.
For instance, the little-known life-threatening disease Spinal Muscular Atrophy (SMA) is the leading genetic cause of death in infants. And yet NICE only recently began the review process for a breakthrough treatment – Spinraza (nusinersen) – despite the drug already having been approved for coverage months earlier in countries including the US, Germany, and Spain. At the same time, young patients with this life-threating disease are left waiting and as one mother remarked, “It is incredibly painful watching [my son] struggle and get weaker…But knowing there’s a drug out there that could stop this happening has made everything much, much harder.”
In the UK, as many as 1,300 children and adults are estimated to be living with the condition; in its severest form, children rarely survive past the age of two. Spinraza therapy is the only disease-modifying treatment for SMA and has been proven to reduce the risk of death, while potentially helping to improve motor function in late-onset cases. Its manufacturer, Biogen, is ‘optimistic’ that Spinraza will become available on the NHS in England and Wales. A scheme such as HERCULES could reward that optimism faster.
Committed collaboration could advance treatments in many specialist areas of research
Though the HERCULES project was conceived by Duchenne UK as an approach simplifying and accelerating treatment appraisals for children with DMD, if successful the ripples from the scheme will spread to many other rare diseases. By establishing a replicable protocol for HTA submission and reimbursement, the DMD experiment will become a model for others to follow.
It’s a project that deserves to be lauded for its commitment to transforming the prospects of some of our most vulnerable members of society, while setting aside many of the commercial considerations that might otherwise impede broader industry progress. Could HERCULES be the start of a new age of enlightenment in the approach to treating rare diseases?