Evaluation of orphan diseases global burden

Abstract

Orphan diseases is a significant socio-economic burden for both global and Russian health care systems. The global burden of disease metrics introduced by WHO, such as DALY, QALY, HALE, can be a useful tool for building economic models and prognoses, as well as medicine funding distribution. However, it is very difficult to standardize a heterogeneous group of rare diseases and it is difficult to talk about the cost-effective treatment options search, in cases where patients with an orphan disease may have only one pathogenetic therapy option. Much work needs to be done to find optimal treatment options and establish the standards of care necessary to maintain physical health, work capacity and quality of life.

Rare disease emerging as a global public health priority

“…Undeniably, a genetic diagnosis offers the potential for personalized medicine, yet opens another door of challenges in treatment availability, accessibility, and affordability. With RDs being heterogeneous and individually rare, interventions and therapies, including orphan drugs, are seldom available due to the lack of market incentives and small market opportunity for the biopharmaceutical industry ( 21 , 22 ). Currently, < 3% of diagnosed RDs have a suitable drug treatment ( 21 , 23 ); it was estimated that fewer than one-tenth of RD patients have received disease-specific treatment globally ( 24 ).…”

“…With RDs being heterogeneous and individually rare, interventions and therapies, including orphan drugs, are seldom available due to the lack of market incentives and small market opportunity for the biopharmaceutical industry ( 21 , 22 ). Currently, < 3% of diagnosed RDs have a suitable drug treatment ( 21 , 23 ); it was estimated that fewer than one-tenth of RD patients have received disease-specific treatment globally ( 24 ). Where a treatment has been approved for a RD, cost of the drug is generally extremely costly, with RD drugs reported to be as high as 13.8 times more than conventional drugs ( 21 , 23 ).…”

“…Currently, < 3% of diagnosed RDs have a suitable drug treatment ( 21 , 23 ); it was estimated that fewer than one-tenth of RD patients have received disease-specific treatment globally ( 24 ). Where a treatment has been approved for a RD, cost of the drug is generally extremely costly, with RD drugs reported to be as high as 13.8 times more than conventional drugs ( 21 , 23 ). This can be financially overwhelming for many, especially when RD drugs usually require out-of-pocket (OOP) cost-sharing by the patient.…”

“…Although cost-effectiveness and cost-utility analyses are often considered to be more useful in informing health and social care decisions, as they take account into both costs and outcomes simultaneously as compared to other option alternatives, such types of analyses are relatively difficult to be conducted within the RD population. This is due to the limited intervention alternatives that are available in the market, the small number of patients that can be recruited into clinical studies, and the conflicting ethical considerations for funding RD treatment ( 21 , 22 , 30 , 31 ). Orphan drugs and RD interventions are often considered to be cost-ineffective against standard cost-effectiveness thresholds, such as the £20k – £30k (US$26k–$39k) per quality-adjusted life year (QALY) threshold proposed by National Institute for Health and Care Excellence (NICE), due to treatment's epidemiological and economic specifics ( 31 , 32 ).…”

Practical and Statistical Considerations for the Long Term Follow‐Up of Gene Therapy Trial Participants

“…The advent of medicines targeting the genetic causes of disease has been a great advancement in addressing the high unmet medical need of devastating genetic diseases. The target of many gene therapies are monogenic diseases that are often individually rare but collectively common, are usually severe, and often present in childhood 1 . The current landscape of approved advanced therapies has seen huge growth in recent years, with US Food and Drug Administration (FDA) and European Medicines Agency (EMA) approvals of gene therapy products for diseases in many indications, including oncology, neurology, hematology, and ophthalmology 2,3 .…”