Charities call for shake-up in UK rare disease R&D

Medical research charities LifeArc and Genetics Alliance UK have issued a call to the government to topple obstacles impeding R&D into rare diseases that are "costing lives and money."

The two non-profit groups published a report this morning that calls for coordinated action across government, the NHS, industry, regulators, researchers, and patient groups to "transform the lives of over 3.5 million people in the UK living with a rare disease."

Despite the large number of people affected, 95% of them do not have any effective treatments, which the report blames on "systemic failures", including long delays before diagnosis, missed treatment windows, and limited access to innovation.

The new report comes as the government has just announced its 10 Year Plan for the NHS, amid a drive to grow the life sciences sector in the UK, and as the current UK Rare Disease Framework comes to an end next year.

Among the recommendations in the report are that rare diseases are included in the recently announced Health Data Research Service, setting clear standards for rare disease data collection and storage, and improving access to whole genome screening.

Greater effort should be expended in generating evidence about the costs to society, while regulatory and cost-effectiveness agencies must ensure their review and appraisal processes can be tailored to new therapies for these diseases.

For researchers, there should be a support service to guide them through the complex drug development and approval process, and the next UK Rare Disease Framework "must come with funding to map the full journey of rare disease research, so that researchers can plan efficiently and get treatments to patients, faster," according to the report.

"By working together, we can end the long waits and missed chances," said Professor Amit Nathwani, chair of the rare disease taskforce and professor of haematology at UCL.

"We can speed up diagnosis, bring better treatments within reach, and give researchers the tools to deliver," he added. "This is our moment to lead – and to change the future for everyone affected by rare disease."

The two charities highlight the case of Idrees Hanif from Oxford, who was diagnosed with Niemann-Pick disease at the age of five.

Shortly after his diagnosis, news of a potential treatment came to light (Sanofi's Xenpozyme [olipudase alfa]), but this was rejected for NHS use in England and Wales by health technology assessment (HTA) agency NICE in April. It has, however, been backed in Scotland on a temporary basis while data on its benefits is gathered.

"Knowing your grandson has a devastating disease is only made worse by knowing there is a treatment, but one he can't access," commented Nasreen Hussain, Idrees' grandmother.

Idrees is receiving the treatment on compassionate use grounds by Sanofi, and "is now flourishing," she said, but added: "We live with the constant fear of what happens if that's taken away."

Nick Meade, who is chief executive of Genetics Alliance UK, said that rare conditions are common, and the people who live with them deserve better.

"We want a future where people with rare diseases receive radically improved care in the way they are diagnosed, treated, and cared for. This report provides practical, evidence-based solutions to make that a reality."