70 Mil­lion In­di­ans suf­fer­ing from Rare Dis­eases

BioSpectrum (India) - - FRONT PAGE - Dr Man­beena Chawla man­beena.chawla@mmac­tiv.com

Rare dis­eases, of­ten re­ferred to as or­phan dis­eases, oc­cur rarely and do not af­fect a large num­ber of peo­ple. How­ever, there are around 350 mil­lion pa­tients world­wide suf­fer­ing from rare dis­eases, and the ma­jor­ity of them are chil­dren. In­dia has no stan­dard def­i­ni­tion for rare dis­eases as there is no com­pre­hen­sive epi­demi­o­log­i­cal data avail­able, but the es­ti­mates put the num­ber at 70 mil­lion. In terms of treat­ment op­tions avail­able, there has been lim­ited re­search in the field of rare disease drug de­vel­op­ment be­cause they are not a pub­lic health pri­or­ity.

More­over, due to lack of aware­ness and knowl­edge about rare dis­eases even among health­care pro­fes­sion­als, there is a lack of proper re­fer­ral of pa­tients to qual­i­fied doc­tors.

Ac­cord­ing to a re­cent study pub­lished in the jour­nal In­tractable and Rare Dis­eases Re­search, 80 per cent of rare dis­eases are ge­netic and 35 per cent of deaths in pa­tients with rare dis­eases oc­cur in in­fants with less than one year. New dis­eases are dis­cov­ered each year and added to the data­bases such as Or­phanet data­base main­tained by the Euro­pean Union. There is no uni­ver­sal def­i­ni­tion of rare disease but the im­por­tance of hav­ing a con­sis­tent def­i­ni­tion across each coun­try is well ac­knowl­edged.

“Aware­ness, ac­ces­si­bil­ity and af­ford­abil­ity are key needs of pa­tients suf­fer­ing from rare disease and early di­ag­no­sis is a crit­i­cal chal­lenge in the man­age­ment of rare dis­eases. The cost of treat­ment for rare dis­or­ders is very high and a life­long ex­pense run­ning into tens

of lakhs of ru­pees each year. Most pa­tients and their fam­i­lies find this an enor­mous eco­nomic bur­den. There ex­ists an ur­gent need for clin­i­cal re­search to en­sure bet­ter and more af­ford­able medicines for rare dis­eases so we can pro­vide sus­tain­able care to pa­tients. From a pol­icy per­spec­tive, we need leg­is­la­tion that specif­i­cally tar­gets bud­getary sup­port, ac­cess, in­no­va­tion, and in­vest­ment for rare disease treat­ment in In­dia”, shares

Prasanna Shi­rol, Founder Mem­ber, Or­gan­i­sa­tion for Rare Disease In­dia (ORDI).

Very re­cently, Dys­tro­phy An­ni­hi­la­tion Re­search Trust (DART), a par­ent run Min­istry of Science and Tech­nol­ogy, Gov­ern­ment of In­dia (De­part­ment of Sci­en­tific & in­dus­trial Re­search) cer­ti­fied re­search lab, had or­ga­nized a 2-day con­fer­ence in Ben­galuru to cre­ate aware­ness on treat­ments and drug tri­als, and to fa­cil­i­tate re­search into al­le­vi­at­ing the scourge of Mus­cu­lar Dys­tro­phy. DART is the first Re­search lab in In­dia fo­cus­ing on Duchenne Mus­cu­lar Dys­tro­phy (DMD). At the con­fer­ence, the 180 del­e­gates com­prised of more than 50 pa­tients and their fam­i­lies, re­searchers, clin­i­cians and stu­dents. The af­fected ones were given a plat­form to share their views and also given an op­por­tu­nity to ques­tion re­searchers, in­dus­try ex­perts and even pol­icy mak­ers re­gard­ing their work in the field of rare dis­eases.

“Over the past decade huge strides and in­no­va­tions made in tech­nol­ogy has opened up a vast av­enue of po­ten­tial ther­a­pies and in­ter­ven­tions for the man­age­ment of Duchenne Mus­cu­lar Dys­tro­phy (DMD). But be­cause it is termed as a rare disease, there is not much aware­ness of the same. In­dia with its rapidly in­creas­ing pop­u­la­tion is touted to have more than one lakh boys suf­fer­ing from DMD. DART has taken up on it­self to be the nodal cen­ter for all in­for­ma­tion con­cern­ing DMD”, points out

Ravdeep Singh Anand, Pres­i­dent, DART.

Un­til some­time, pol­icy mak­ers and pub­lic health au­thor­i­ties had no or min­i­mum aware­ness about these con­di­tions. How­ever, to­day, we can see a shift in pub­lic opin­ion, which has re­sulted in the ex­e­cu­tion of cer­tain note­wor­thy ac­tions. Min­istry of Health & Fam­ily Wel­fare (MoH&FW) has fi­nal­ized the Na­tional Pol­icy for Treat­ment of Rare Dis­eases, with an al­lo­ca­tion of Rs 100 crore. A re­al­is­tic pol­icy in­ter­ven­tion is im­por­tant to con­trol the grow­ing threat of rare dis­eases, but it is re­quired for the states to be equally in­volved in im­ple­ment­ing the ac­tion plan.

“Last year, the In­dian Coun­cil of Med­i­cal Re­search (ICMR) has launched ‘The In­dian Rare Disease Registry’ which is aimed to­wards ad­dress­ing the un­met needs of pa­tients with rare dis­eases and also help­ing the coun­try de­velop data and in­for­ma­tion to sup­port re­search & de­vel­op­ment and en­hance in­no­va­tion. The Registry is an or­ga­nized sys­tem that uses ob­ser­va­tional study meth­ods to col­lect uni­form data to eval­u­ate spec­i­fied out­comes for a pop­u­la­tion de­fined by a par­tic­u­lar disease, con­di­tion, or ex­po­sure, and that serves a pre­de­ter­mined sci­en­tific, clin­i­cal, or pol­icy pur­poses”, men­tions Dr Soumya Swami­nathan, Deputy

Direc­tor Gen­eral for Pro­grammes, World Health Or­gan­i­sa­tion (WHO).

Dr Vi­jay Chan­dru, Chair­man, Strand Life Sciences,

is cur­rently spear­head­ing a con­sor­tium of doc­tors, re­searchers and biotech com­pa­nies that has drafted a Rare Disease and Or­phan Drug Pol­icy for the state of Kar­nataka. “Kar­nataka has al­ways been a pro­gres­sive state in the use of science and tech­nol­ogy for de­vel­op­ment. The state stands out in bring­ing to­gether stake­hold­ers in academia, in­dus­try and gov­ern­ment to ad­dress chal­lenges and de­vise so­lu­tions for var­i­ous so­ci­etal is­sues. Kar­nataka is uniquely po­si­tioned to ad­dress the dif­fi­cult chal­lenges faced by ci­ti­zens who suf­fered from var­i­ous rare dis­eases – it is es­ti­mated that nearly 7.2 crore ci­ti­zens of In­dia fall in this cat­e­gory and Kar­nataka has its fair share of per­haps 30 to 40 lakh pa­tients. A draft­ing com­mit­tee was ap­pointed to for­mu­late a pol­icy for the state on rare dis­eases and or­phan drugs. The rec­om­men­da­tions made in the draft pol­icy is to­wards de­vel­op­ing rare disease cen­tres of ex­cel­lence with high-qual­ity ex­pert care us­ing the ex­ist­ing in­fra­struc­ture of hos­pi­tals and re­search in­sti­tutes like Indira Gandhi In­sti­tute of Child Health, NIMHANS, Cen­tre for Hu­man Ge­net­ics and Kas­turba Med­i­cal Col­lege, Man­ga­lore.

The pol­icy is un­der­go­ing some fi­nal ed­its be­fore be­ing taken up for dis­cus­sion in the con­cerned sec­re­tar­iats”, shares

Dr Ramesh Har­i­ha­ran, Chief Ex­ec­u­tive Of­fi­cer, Strand Life Sciences.

Of the 7,000-odd rare dis­eases, only 500 have US FDA-ap­proved drugs. The re­main­ing have to be man­aged by phys­io­ther­apy, sur­gi­cal in­ter­ven­tion, or oc­cu­pa­tional ther­apy. Sev­eral multi­na­tional com­pa­nies of­fer treat­ment pro­to­cols in In­dia but the cost is pro­hib­i­tive.

N. Ra­jaram, Man­ag­ing Direc­tor, Sanofi In­dia,

ex­plains, “Given the low bur­den of rare dis­eases in the coun­try, these pa­tients are of­ten in­vis­i­ble to the pub­lic health sys­tem. They in­cur very high di­ag­nos­tic and treat­ment costs and do not re­ceive the guid­ance and sup­port they need. Sanofi Gen­zyme, the spe­cialty care global busi­ness unit of Sanofi, is com­mit­ted to work­ing with the com­mu­nity of pa­tients, physi­cians and re­searchers to en­able ef­fec­tive di­ag­no­sis, fo­cused ed­u­ca­tion and sus­tain­able ac­cess to treat­ment. Through our char­i­ta­ble ac­cess pro­gramme, known as INCAP (IN­dia Char­i­ta­ble Ac­cess Pro­gram), Sanofi Gen­zyme is cur­rently pro­vid­ing free Enzyme Re­place­ment Ther­apy to pa­tients with Lyso­so­mal Stor­age Dis­or­ders (LSDs) in In­dia. INCAP has grown sig­nif­i­cantly since its in­cep­tion in 1999 and is widely ap­pre­ci­ated for its al­tru­is­tic ef­forts to sup­port the LSD com­mu­nity by pro­vid­ing ther­apy to pa­tients who lack suf­fi­cient fi­nan­cial re­sources to avail of these ther­a­pies.

To­day, over a hun­dred pa­tients are ben­e­fit­ting from the enzyme re­place­ment ther­a­pies be­ing pro­vided un­der INCAP, for rare dis­eases like Gaucher disease, Pompe disease, Fabry disease, and MPS I (Mu­copolysac­cha­ri­doses) disease.”

“In In­dia, drugs to treat rare dis­eases are largely pro­cured by the gov­ern­ment and dis­pensed at pub­lic hos­pi­tals. Cur­rently, Shire sells 12 prod­ucts in the form of in­jecta­bles in In­dia, in­clud­ing those treat blood dis­or­der haemophilia. We have now ap­plied to the Drug Con­troller Gen­eral of In­dia to in­tro­duce drugs to treat a cat­e­gory of ge­netic dis­or­ders known as lyso­so­mal stor­age dis­eases. We have made an ap­pli­ca­tion to launch the drugs. The ap­pli­ca­tion is un­der re­view and as of yet, we do not know whether a clin­i­cal trial will be needed in In­dia”, shares

Vi­neet Sing­hal, Coun­try Head, Shire.

Re­cently, Orax­ion Ther­a­peu­tics, Inc., a spinoff from Ben­galuru based Aten Porus Life­sciences en­tered into an Op­tion Agree­ment with a US-based Bio­phar­ma­ceu­ti­cal com­pany, for li­cens­ing its lead as­set ORX-301 for the treat­ment of Nie­man­nPick Type C dis­or­der (NPC) and Fo­cal Seg­men­tal Glomeru­loscle­ro­sis (FSGS). “We have con­firmed the ther­a­peu­tic ef­fi­cacy of our lead com­pound, ORX-301, in the rel­e­vant pre­clin­i­cal mod­els of these dis­eases and now plan to trans­fer the as­set to our part­ner for clin­i­cal de­vel­op­ment. We would also like to ac­knowl­edge the sup­port from the Biotech­nol­ogy In­dus­try Re­search As­so­ci­a­tion Coun­cil (BIRAC), an ini­tia­tive of the De­part­ment of Biotech­nol­ogy, Gov­ern­ment of In­dia, for ini­tial grant sup­port for our work”, shares

Dr Aditya Kulka­rni, Founder & Chief Sci­en­tific Of­fi­cer, Orax­ion Ther­a­peu­tics, Inc.

Dr Vi­jay Chan­dru, adds, “I feel that a quick and cost-ef­fec­tive op­tion for treat­ment of rare dis­eases is for In­dian com­pa­nies to de­velop biosim­i­lars of ex­ist­ing drugs. Enzyme Re­place­ment Ther­a­pies can be eas­ily man­u­fac­tured here. In­no­va­tor phar­ma­ceu­ti­cal com­pa­nies should work out li­cens­ing agree­ments with In­dian man­u­fac­tur­ers”.

Due to the rare in­ci­dence of these dis­eases, drug-mak­ers find in­no­va­tion and de­vel­op­ment of drugs for them un­prof­itable. This holds true world­wide, but more so in In­dia where the lion’s share of the health­care and med­i­cal re­search bud­get goes to­wards more com­mon dis­eases such as HIV, tu­ber­cu­lo­sis and can­cer.

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