Breakthroughs boost liver disease prospects

Hope is on the hori­zon for peo­ple liv­ing with Pri­ma­ry Bil­iary Cholan­gi­tis (PBC), a long-term auto-immune con­di­tion that caus­es acute liv­er dam­age and reduced qual­i­ty of life.
The con­di­tion, which results in bile acid inflam­ing, dam­ag­ing and scar­ring the liv­er, has no ther­a­peu­tic cure and symp­toms are often over­looked or mis­di­ag­nosed, which has his­tor­i­cal­ly led to an aver­age five-year wait before effec­tive treat­ment.

But a series of clin­i­cal break­throughs and cam­paigns by the PBC Foun­da­tion are encour­ag­ing drug devel­op­ment and improv­ing con­di­tion man­age­ment by rais­ing aware­ness among the pub­lic and med­ical pro­fes­sion.

There are in excess of 20,000 peo­ple in the UK liv­ing with PBC, many of whom are believed to be undi­ag­nosed. This is because their main symp­toms, usu­al­ly fatigue, an itch under the skin, joint and mus­cle pain, and brain fog, are often ascribed to oth­er con­di­tions.

“The result is that many peo­ple endure these symp­toms unaware of PBC, and their per­son­al and work lives can suf­fer when they could be get­ting the help they need,” says Robert Mitchell-Thain, CEO at the Edin­burgh-based PBC Foun­da­tion. “Their qual­i­ty of life is impaired sig­nif­i­cant­ly and it is still tak­ing too long for patients to reach a diag­no­sis.

“PBC affects nine times more women than men and many are told all sorts of non­sense before reach­ing a diag­no­sis, such as ‘we are all tired’ or even that they are going through the menopause. We are com­mit­ted to rais­ing aware­ness among the med­ical pro­fes­sion so they can make swifter diag­noses and patients can take own­er­ship of the con­di­tion and lead fuller lives.”

The Foun­da­tion is a lead­ing force for edu­ca­tion and research around the con­di­tion. It is col­lab­o­rat­ing with phar­ma­ceu­ti­cal com­pa­nies and reg­u­la­tors to improve the prospects of clin­i­cal tri­als and accel­er­ate treat­ments and a poten­tial cure.

“We need to high­light to health­care pro­fes­sion­als [HCPs] the extent of symp­tom bur­dens that peo­ple liv­ing with PBC expe­ri­ence,” says Mitchell-Thain. “We also need to empow­er patients with the con­fi­dence to dis­cuss their qual­i­ty of life with HCPs so it can be pri­ori­tised in their treat­ment.”

HCPs look to oth­er con­di­tions first to explain the fatigue, brain fog, and joint and mus­cle pain that char­ac­terise PBC but, when they do con­sid­er it, the stan­dard antim­i­to­chon­dr­i­al anti­body blood test is 95% accu­rate at detect­ing the pres­ence of PBC.

“That all said, dis­ease pro­gres­sion is very dif­fer­ent to symp­tom bur­den and we absolute­ly must tack­le both aspects of this incur­able dis­ease,” says Mitchell-Thain.

With no cure, an ear­ly diag­no­sis is essen­tial in ensur­ing patients can try exist­ing first- and sec­ond-line ther­a­pies, and devel­op an effec­tive man­age­ment of their con­di­tion. Ear­ly diag­no­sis and suc­cess­ful treat­ment can lead to a nor­mal life expectan­cy, how­ev­er if either of these aspects are miss­ing it can lead to dete­ri­o­ra­tion that can eat into both phys­i­cal and emo­tion­al well­be­ing.

The foun­da­tion is lead­ing work to cre­ate a clin­i­cal method­ol­o­gy that mea­sures symp­toms in a way that works for PBC patients, clin­i­cians and reg­u­la­tors. It involves adapt­ing tests known as the Glob­al Clin­i­cal Impres­sions (CGI) scale, which mea­sure symp­tom sever­i­ty and are approved for oth­er con­di­tions.

The research work could lead to a stronger clin­i­cal tri­als frame­work that could see ther­a­pies devel­oped at pace to pro­vide effec­tive man­age­ment of the con­di­tion and its symp­toms from an ear­ly diag­no­sis.

The foun­da­tion has sup­port­ed research across the dis­ease space, includ­ing devel­op­ing a qual­i­ty of life mea­sure­ment tool and focus­ing on poten­tial trig­gers that con­fuse the body’s immune sys­tem and increase the impact of symp­toms on qual­i­ty of life.

“We have 15,000 patients from 80 coun­tries using our ser­vices and, because of the unmet need, we have a huge respon­si­bil­i­ty and oppor­tu­ni­ty to make a dif­fer­ence to their and their fam­i­lies’ lives,” added Mitchell-Thain.

“GPs rarely encounter PBC and the time tak­en to reach a diag­no­sis can real­ly impair the man­age­ment of the pro­gres­sion of PBC, par­tic­u­lar­ly in terms of their qual­i­ty of life and the psy­cho­log­i­cal impact. We are work­ing hard to change that and, although there is a lot still to be done, the signs of change are promis­ing.”

For more infor­ma­tion please vis­it pbcfoundation.org.uk

This arti­cle has been spon­sored by the ADVANZ PHARMA Group.
ADVANZ PHARMA rec­om­mend­ed the poten­tial authors for this arti­cle, how­ev­er, with the excep­tion of a fac­tu­al accu­ra­cy check, ADVANZ PHARMA has had no edi­to­r­i­al con­trol over the con­tent of this arti­cle.

UK-NP-PB-0801, Date of Prep: July 22

Pro­mot­ed by PBC Foun­da­tion