Why clinical trials for rare disease treatments must embrace digital innovation

The poten­tial of new and emerg­ing treat­ments in the rare dis­ease field offers real hope for the 3.5 mil­lion peo­ple in the UK and 300 mil­lion peo­ple world­wide who will be affect­ed by a rare dis­ease at some point in their lives. It’s a pos­i­tive sign that between 2006 and 2016 there was an 88% increase in the num­ber of clin­i­cal tri­als in rare dis­eases. But inno­va­tion in clin­i­cal tri­al oper­a­tions needs to be pri­ori­tised, so that the study of rare dis­eases in human sub­jects is sim­pler and more mod­ern, paving the way to get poten­tial treat­ments to patients faster. For those liv­ing with rare dis­eases, it’s high­ly frus­trat­ing that drug devel­op­ment is such a slow process. It can take years to devel­op new treat­ments, which means effi­cien­cy of clin­i­cal tri­als for rare dis­eases is essen­tial.

Despite their col­lec­tive name, rare dis­eases are, para­dox­i­cal­ly, quite com­mon over­all. About 6% of the pop­u­la­tion suf­fer a rare dis­ease, so most peo­ple know some­body with one. Of the 7,000 or so rare dis­eases that we are cur­rent­ly aware of, some are well known due to the raised media pro­file they have. For exam­ple, cys­tic fibro­sis and motor neu­rone dis­ease, have more noto­ri­ety than oth­er rare dis­eases thanks to actors such as Jen­ny Agut­ter who has the cys­tic fibro­sis gene, and sports­peo­ple such as ex-rug­by play­er Dod­die Weir and ex-foot­baller Stephen Dar­by who both have motor neu­rone dis­ease. Sad­ly, 75% of those affect­ed by rare dis­eases are chil­dren. For exam­ple, Duchenne mus­cu­lar dys­tro­phy is a hor­ri­ble, life-lim­it­ing dis­ease of boys that often starts very ear­ly in child­hood.

One of the chal­lenges of any clin­i­cal tri­al – espe­cial­ly for rare dis­eases – is the recruit­ment phase. This is when researchers must find enough peo­ple who match the char­ac­ter­is­tics to be eli­gi­ble to par­tic­i­pate in the study. This means it is essen­tial for physi­cians to have imme­di­ate access to deter­mine whether the per­son in front of them meets the eli­gi­bil­i­ty cri­te­ria of a rare dis­ease clin­i­cal study. The fact that study doc­u­ments are stored on paper away from the clin­ic is not con­ducive to the real-time deci­sion mak­ing nec­es­sary to enrol can­di­dates in com­plex stud­ies.

We should also con­sid­er that 80% of rare dis­eases have a genet­ic com­po­nent. Hope now rests on some of the new advanced ther­a­pies, such as gene ther­a­py and cell ther­a­py. We already have a gene ther­a­py for a rare form of blind­ness help­ing to trans­form people’s lives. In addi­tion, we are mov­ing clos­er towards being able to alter genes in peo­ple with genet­ic rare dis­eases through CRISPR-Cas9 gene edit­ing. This involves chang­ing a sin­gle let­ter, or base, in a gene. Fur­ther­more, CAR T‑cell ther­a­pies which use gene-replaced autol­o­gous T‑cells, have been approved in the last cou­ple of years as part of treat­ment for some rare types of can­cer.

These approach­es offer real promise for future progress in rare dis­ease treat­ment. But mod­ern med­i­cine also requires more sophis­ti­ca­tion in clin­i­cal tri­als. A dig­i­tal, mobile-first approach to clin­i­cal tri­als equips inves­ti­ga­tors and oth­er research staff with the infor­ma­tion they need to make informed deci­sions and prop­er­ly car­ry out com­plex pro­ce­dures. This makes real-time com­mu­ni­ca­tion with experts even more crit­i­cal to pre­serve the data integri­ty of the clin­i­cal tri­al and more impor­tant­ly pro­tect the safe­ty of the human beings in the study.

A per­son liv­ing with a rare dis­ease has a basic human right to not have their con­di­tion over­looked, no mat­ter how rare. It’s impor­tant that such patients are not mar­gin­alised and that we respect those with rare dis­eases. Clin­i­cal tri­als, espe­cial­ly for rare dis­eases, need to be done in a mod­ern way that avails of the mobile dig­i­tal tools that we all use in our every­day lives. Oth­er­wise, they will con­tin­ue to be slow and delay effec­tive treat­ments.

Teck­ro clin­i­cal tri­al soft­ware pro­vides a hub of com­mu­ni­ca­tion and col­lab­o­ra­tion for clin­i­cal tri­al study teams and researchers, ensur­ing accu­rate, cur­rent study guid­ance is always avail­able at the point of care.

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