Decentralisation unlocks new possibilities for rare disease research

The way clin­i­cal tri­als are con­duct­ed has not tra­di­tion­al­ly favoured the rare dis­ease com­mu­ni­ty. Typ­i­cal­ly con­duct­ed at med­ical cen­tres in large cities, where spe­cial­ist clin­i­cians are locat­ed, par­tic­i­pa­tion in clin­i­cal research has long been a chal­lenge. Patients with rare dis­eases are, by def­i­n­i­tion, lim­it­ed – although col­lec­tive­ly, many are affect­ed (approx­i­mate­ly 5% of the world pop­u­la­tion) – and often expe­ri­ence debil­i­tat­ing symp­toms which make clin­i­cal tri­al par­tic­i­pa­tion chal­leng­ing.

Almost 40% of rare dis­ease patients trav­el over 60 miles for health­care. Clin­i­cal research sites are often much fur­ther away. Even if they can reach clin­ics, par­tic­i­pa­tion can be long and tir­ing. Par­tic­i­pants must adhere to strict vis­it sched­ules over the treat­ment peri­od – any­where from six months to many years. Each vis­it requires sub­stan­tial­ly more test­ing and time than a nor­mal doctor’s vis­it. Time required in a research study adds a com­mit­ment bur­den to par­tic­i­pants and their fam­i­lies and is a key bar­ri­er to par­tic­i­pa­tion.

“Rare dis­ease research has his­tor­i­cal­ly been very chal­leng­ing, but new solu­tions are now avail­able to make par­tic­i­pa­tion eas­i­er” says Joyce Moore, head of rare dis­ease solu­tions at THREAD, a lead­ing provider of decen­tralised clin­i­cal tri­al tech­nol­o­gy that has sup­port­ed over 50 glob­al rare dis­ease tri­als. “The num­ber of patients avail­able with a rare dis­ease is inher­ent­ly small, and require­ments for fre­quent long-dis­tance trav­el to research clin­ics may dis­cour­age many oth­er­wise moti­vat­ed patients. When you con­sid­er that 50% of rare dis­ease patients are chil­dren, this adds addi­tion­al com­plex­i­ties.”

The solu­tion, to many in med­ical research, is clear: decen­tral­i­sa­tion. Advances in health­care tech­nolo­gies like telemed­i­cine, mobile sur­veys and dig­i­tal com­mu­ni­ca­tions, mean many clin­i­cal tri­al pro­ce­dures can take place in a patient’s home and clin­i­cal assess­ments can be report­ed secure­ly online. While the tech­nol­o­gy to enable this expe­ri­ence has been avail­able, the bio­phar­ma­ceu­ti­cal indus­try and reg­u­la­tors (MHRA, FDA, EMA) have been slow to adopt these new solu­tions.

That is until COVID-19. The pan­dem­ic required the bio­phar­ma­ceu­ti­cal indus­try and reg­u­la­tors to sup­port new ways of engag­ing par­tic­i­pants. The com­bined effort ensured that cru­cial clin­i­cal tri­als could con­tin­ue to take place dur­ing nation­al lock­downs. The result was a tip­ping point.

“While the bio­phar­ma­ceu­ti­cal indus­try was devel­op­ing new vac­cines, there remained a sig­nif­i­cant effort and need to main­tain safe­ty and data integri­ty in all clin­i­cal tri­als. Patient safe­ty was of the utmost impor­tance,” Moore says. “It was an impor­tant moment for rare dis­ease suf­fer­ers as reg­u­la­tors sup­port­ed the bio­phar­ma­ceu­ti­cal indus­try to incor­po­rate decen­tralised ele­ments in stud­ies and by doing so increase inclu­sion, patient choice and flex­i­bil­i­ty.”

THREAD is play­ing a key role in this shift to decen­tralised stud­ies. THREAD helps bio­phar­ma and life sci­ence organ­i­sa­tions cap­ture data from par­tic­i­pants and sites remote­ly dur­ing, between, and in lieu of in-clin­ic vis­its. The company’s mis­sion seeks to make tri­als five times more inclu­sive and 30% more effi­cient through one com­pre­hen­sive tech­nol­o­gy plat­form. Dri­ven by this mis­sion, THREAD has become a reli­able part­ner for an indus­try look­ing to help peo­ple with rare dis­eases.

“Our expe­ri­ence over the last six years taught us how impor­tant it is to give peo­ple with rare dis­eases more oppor­tu­ni­ties for their care. For a large rare dis­ease reg­istry, we imple­ment­ed new data dash­boards that pro­vide real-time infor­ma­tion to par­tic­i­pants so they could com­pare their expe­ri­ence with oth­ers. This, along with the platform’s ease-of-use and fea­tures, led to a 50% increase in reg­istry par­tic­i­pa­tion and suc­cess­ful patient recruit­ment across 12 new clin­i­cal tri­als,” notes Moore.

DCT approach­es like these are already help­ing researchers con­duct more effi­cient stud­ies and bring new ther­a­pies to mar­ket faster.

“There is still a large unmet need for new rare dis­ease treat­ments in the UK, where 3.5 mil­lion peo­ple are affect­ed,” Moore says. “THREAD has a large rare dis­ease port­fo­lio, includ­ing tri­als in the UK. By speed­ing up the clin­i­cal tri­al process, and mak­ing it more acces­si­ble, we can get vital rare dis­ease treat­ments to those that need them quick­er.”

For more infor­ma­tion vis­it threadresearch.com

Pro­mot­ed by THREAD