Increasing patient involvement in research to tackle unmet need

It could be said that there is no greater unmet need than a complete and absolute absence of treatment options. 

That’s exactly the situation in xeroderma pigmentosum (XP), an ultra-rare genetic condition which causes such extreme sensitivity to UV light that sufferers are 10,000 times more susceptible to skin cancer than the general population. 

As part of our Patient Voice series, Nicola Miller, co-founder of XP support charity The Teddington Trust, told us how greater patient involvement in research could help move the dial from science fiction to science fact. 

No treatment, no cure 

Despite huge leaps forward in medical sciences in recent times, the 105 people living in the UK with ultra-rare XP currently have no treatment options. 

The DNA repair disorder means cells lack the ability to fix the damage caused by, primarily, UV radiation from both natural and artificial light. 

“If you have a diagnosis it is all about preventive measures and lifestyle changes to avoid getting skin cancers, and then treating them if you do,” says Nicola, whose son, Eddison, was diagnosed with the condition in 2012 when he was just 13-months-old. 

“From the moment the sun comes above the horizon to the minute it goes below the horizon there is UV in the air, so they must be 100% shielded at all times.” 

UV rays travel through glass and even some fabrics, and it is not unusual for children of seven to have already developed 20 or 30 skin cancers. 

Nicola, who runs the charity with co-founder and sister Rebeca Stewart, says: “My son burnt through his clothes before he was diagnosed because we didn’t know he needed certain UV-blocking fabrics.  

“They can’t be exposed to florescent lights or halogen spotlights, like you might get in kitchens or shops, or pretty much anything over a 40w lightbulb. The only thing that’s safe is really low wattage or LED lighting.” 

The lack of DNA repair mechanism means patients are particularly vulnerable to the damage done by things such as cigarette smoke and pollution. Their internal organs age quicker than those of the general population, and patients are also more susceptible to internal cancers.  

Untreatable complications  

Around 30% of people with the condition also develop untreatable neurological complications.  

These can range from high frequency hearing loss, visual impairment or learning difficulties, right through to a compete loss of motor function. 

“From a neurological point of view, all they can do is closely monitor them. If there has been any cognitive and neurological decline, there is nothing to inhibit it or stop it,” says Nicola, adding that there was no way of predicting who would develop these difficulties. 

“The science is just not at a point where they know why that happens.” 

Science fiction hopes 

The thought of finding a cure was currently, she says, “science fiction”, but that doesn’t mean the XP community is without hope. 

The team at 123 Genetix have developed digital disease models of two forms of XP and have gifted them to the charity with the hope it will fast-track discoveries. 

“This is our priority now. We want to start talking to researchers to see if these models are something they can work with,” says Nicola. 

“They will be able to test any number of hypotheses on them and hopefully build up some data that will start to give us a strong scientific backing. It’s really exciting and we are absolutely thrilled, but it is early days.” 

Central to the charity’s plan is ensuring the patient voice is heard from the very start of the research pathway. 

Nicola says: “What the scientists assume are the biggest problems in the condition may not match what the patients think. It’s important to speak to the patients, they  should be paramount in directing the focus of research. 

“There is this assumption that patients do not understand research, but most people are highly qualified in understanding their condition and the science around it.” 

Trickle down effect  

As things stand, small patient numbers mean relying on the benefits of larger projects to “trickle down” to people with XP, says Nicola. 

She adds that there needs to be a wider conversation that cut across traditional healthcare and industry silos. 

She says: “I think the best chance for improvement in XP is in the general population’s desire to stay young and not receive so much damage from the sun.  

“I suspect this problem is already being worked on in the sun cream and make-up industries and that is where the answers will come from.”  

Ultimately, considering the needs of patients from the start of product development could help researchers gain a greater understanding of the possible applications of their work. 

What’s more, it would offer hope and motivation to people affected by diseases with few to no treatment options, such as XP.