Orphan drug policies and use in pediatric nephrology

Abstract

Orphan drugs designed to treat rare diseases are often overpriced per patient. Novel treatments are sometimes even more expensive for patients with ultra-rare diseases, in part due to the limited number of patients. Pharmaceutical companies that develop a patented life-saving drug are in a position to charge a very high price, which, at best, may enable these companies to further develop drugs for use in rare disease. However, is there a limit to how much a life-saving drug should cost annually per patient? Government interventions and regulations may opt to withhold a life-saving drug solely due to its high price and cost-effectiveness. Processes related to drug pricing, reimbursement, and thereby availability, vary between countries, thus having implications on patient care. These processes are discussed, with specific focus on three drugs used in pediatric nephrology: agalsidase beta (for Fabry disease), eculizumab (for atypical hemolytic uremic syndrome), and cysteamine bitartrate (for cystinosis). Access to and costs of orphan drugs have most profound implications for patients, but also for their physicians, hospitals, insurance policies, and society at large, particularly from financial and ethical standpoints.

Clinical and genetic factors are associated with pain and hospitalisation rates in sickle cell anaemia in Cameroon

“…This could indicate that some hospitalisations were probably due to other confounding causes. There is evidence that acute kidney injury is common during sickle cell pain crisis (Baddam et al , 2017); but, we did not observe any association between VOC and albuminuria, eGFR or variants in HMOX1; although variants in HMOX1 were previously associated with kidney dysfunctions among Cameroonians with SCD (Geard et al , 2017), and reduced acute chest syndrome and hospitalisation rates in SCD patients in the USA (Bean et al , 2012). Increased health care utilization by SCD patients for VOC is well known (McMillan et al , 2015; Rees et al , 2010), and these individuals are at particularly high risk for death (Platt et al , 1991, Darbari et al , 2013; Elmariah et al , 2014), and should be vigorously treated; early identification of these individuals could involve a comprehensive risk model including evolving variants specific in pain–related genes.…”

Non-Traditional Risk Factors of Albuminuria in the Pediatric Population: A Scoping Review

“…The overall prevalence of albuminuria, as defined by an ACR greater than 30 mg/g, was 12.8% (95% CI 9.9–15.6). In males, the frequency of albuminuria was 10.2% (95% CI 6.1–14.2) and in females, it was 15.5% (95% CI 10.7–20.3) [ 10 ].…”

Evans Syndrome Complicated by Intratubular Hemoglobin Cast Nephropathy

“…Our case of ES presents another avenue of acute renal failure, the development of hemoglobin casts in the kidney, which was suspected before death and confirmed at autopsy. It is interesting that ES is not more often complicated by the formation of hemoglobin casts since intravascular hemolysis is a well-documented cause of acute or chronic renal failure; one important example of the latter is sickle cell disease with vasoocclusion and hemolysis [ 5 , 6 ]. However, hemoglobin casts as a primary cause of acute renal failure remain extremely uncommon [ 3 ].…”

“…Intravascular hemolysis, with hemoglobinemia, is known to produce acute kidney injury; however, the development of intratubular hemoglobin casts (hemoglobin cast nephropathy) in the setting of acute hemolysis is uncommon as evidenced by its documentation by the rare individual case report [ 3 ]. Likewise, the association of ES and acute renal failure is equally uncommon, in contrast to other hematologic disorders such as sickle cell disease [ 4 – 6 ]. We present a case of a 7-year-old girl with ES who developed acute kidney injury in the setting of intravascular hemolysis and had widespread intratubular hemoglobin casts which was documented at the postmortem examination.…”