Advance rare diseases research with closed claims real-world data

MarketScan real-world data has been used to assess illness burden of rare diseases, map patient journeys, inform clinical trial design, and support regulatory submissions.

Today is Rare Disease Day – a day dedicated to raising awareness for patients, families, and caregivers around the world affected by rare diseases. More than 40 years ago, the United States Congress passed the Orphan Drug Act (ODA), which incentivized the development of treatments for rare diseases. The Food and Drug Administration (FDA) defines rare diseases as conditions affecting fewer than 200,000 people in the US.1 Today, more than 7,000 rare diseases – many of which have genetic origins – are estimated to affect about 30 million Americans and up to 400+ million people worldwide.1,2 Despite the approval of more than 800 rare disease treatments in the decades since ODA enactment, FDA-approved therapies currently exist for only about 5% of known rare diseases, leaving a vast unmet need among the diverse rare disease community.3

Among the hurdles of treatment development for rare diseases, are the small number of trial-eligible patients and gaps in knowledge of the characteristics and healthcare experience of affected patients. Real world data (RWD), including healthcare claims databases, represents a valuable resource for life sciences companies advancing research in rare diseases. RWD provides critical insights for research studies that explore the burden of illness of rare diseases, map patient journeys through the healthcare system, and support trial design, regulatory submissions, and bids for payer coverage of rare disease treatments. MarketScan® by Merative™ – a closed-claims database capturing patients’ complete healthcare experience over time – is an ideal source of RWD about rare disease patients. In the past two decades, hundreds of analyses using MarketScan data have been published that center on patients with a variety of rare diseases. MarketScan has been used to study conditions ranging from the rarest musculoskeletal disorders (e.g., Duchenne muscular dystrophy) to the more common of the rare diseases (e.g., pulmonary arterial hypertension and narcolepsy). In recent years, neuroendocrine tumors (NET) and sickle cell disease (SCD) are among the rare diseases investigated by MarketScan researchers and others using the MarketScan Databases.

Neuroendocrine tumors

NETs are rare tumors that are often misdiagnosed due to their nonspecific symptoms. Early and accurate NET diagnosis is critical in getting the appropriate treatment and improving patient survival. In a 2021 analysis, MarketScan researchers partnered with an industry team to use a case-control design and machine learning techniques to identify symptoms, diagnoses, procedures, and visits to providers associated with a high probability of having a NET diagnosis and/or a longer time to NET diagnosis, as well as common misdiagnoses.4 In addition to being a potential first step in the development of a diagnostic tool specifically for NET, this proof-of-concept analysis more broadly demonstrates how the longitudinal clinical data in the MarketScan Databases can be leveraged to identify diagnostic pathways to rare diseases, thereby reducing costly delays in diagnosis, allowing timely treatment, and improving patient outcomes.

In a separate analysis with the same industry partner, MarketScan researchers estimated the costs associated with switching, within and between, treatment classes among patients with NET who initiated a somatostatin analog (SSA) medication.5 Given the role that economic factors often play in population-based recommendations, the study findings may be used to inform treatment sequencing decisions for NET patients.

Sickle cell disease

Sickle cell disease is a hereditary condition in which a genetic mutation causes hemoglobin (the oxygen-carrying protein in the blood) to take on a sickled shape, leading to frequent and painful vaso-occlusive crises (VOCs) and other multi-organ complications. Historically, the only curative treatment available for SCD has been bone marrow/stem cell transplant, a procedure for which relatively few SCD patients qualify. However, in late 2023, the FDA approved two novel gene therapies intended to correct the root cause of SCD and thereby eliminate, or at least greatly reduce, the occurrence of VOCs among those suffering with SCD. Despite the life-changing benefits of these one-time therapies, their manufacturers were tasked with justifying their hefty price tags as they prepared to bring these therapies to market. Data from the MarketScan Databases were used to support the approval and launch of both therapies by demonstrating the high cost of living with SCD.

In a 2022 publication, MarketScan researchers partnered with a pharma team to quantify the long-term costs of SCD among patients with a history of acute VOCs or other SCD-related complications.6 The study highlighted the substantial healthcare costs over a five-year period for different age groups (<18, 18-30, and >30), with those over 30 having the highest five-year costs of up to $453,000.

In August 2023, a comprehensive analysis was published by MarketScan researchers and another industry partner that took a broad look at the clinical and health economic experience of patients with SCD with a history of recurrent VOCs.7 Most of these patients continued to experience frequent VOCs over an average of four years of follow-up, as well as other common complications of SCD such as acute infections, chronic lung disease, and anxiety/depression. These patients were projected to incur lifetime healthcare costs of $3.8 million by age 50, with an additional $102,000 each year thereafter. Higher costs were projected for patients who continued to experience multiple annual VOCs.

The MarketScan Multi-State Medicaid Database was leveraged to estimate the direct and indirect costs of end organ damage (EOD) associated with SCD among Medicaid patients in a 2020 publication by MarketScan coauthors.8 Following an EOD diagnosis, the direct annual healthcare costs were estimated to be between $127,000 and $286,000 among SCD patients. These patients also spent up to 62 days per year, on average, receiving healthcare services after an EOD diagnosis, compared to up to 25 days without EOD, contributing to productivity loss.

In addition to the above studies, other rare diseases with therapies currently in the pharma pipeline that MarketScan researchers have investigated include beta thalassemia9, cholangiocarcinoma10, hereditary angioedema11, Huntington’s disease12, and pulmonary arterial hypertension13, among others. These studies, as well as the hundreds of other rare disease publications facilitated by the MarketScan Databases, collectively demonstrate the breadth, depth, and flexibility for identifying and exploring rare disease populations to fit the unique needs of life science organizations. To explore how MarketScan can help with your rare disease studies, please contact the MarketScan team.

Every month, our team pulls together a report with our latest news and research activities. Next month, we will discuss assessing productivity loss using the MarketScan Health and Productivity Management Database.

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  1. Food and Drug Administration (2022). Rare Diseases at FDA. Rare Diseases at FDA | FDA
  2. Nguengang Wakap S, Lambert DM, Olry A, Rodwell C, Gueydan C, Lanneau V, Murphy D, Cam YL, Rath A. Estimating cumulative point prevalence of rare diseases: analysis of Orphanet database. Eur J Hum Genet . 2020; 28:165-173.
  3. Fermalich LJ, Miller KL. A comprehensive study of the rare diseases and conditions targeted by orphan drug designations and approvals over the forty years of the Orphan Drug Act. Orphanet J Rare Dis. 2023;18:163.
  4. Zimmerman NM, Ray D, Princic N, Moynihan M, Clarke C, Phan A. Exploration of machine learning techniques to examine the journey to neuroendocrine tumor diagnosis with real-world data. Future Oncol. 2021;17(24):3217-3230.
  5. Tawfik B, Ray D, Moynihan M, Princic N. Costs of treatment change following first-line somatostatin analog monotherapy among patients with neuroendocrine tumors. J Med Econ. 2021;24(1):1337-1345.
  6. Gallagher ME, Chawla A, Brady BL, Badawy SM. Heterogeneity of the long-term economic burden of severe sickle cell disease: a 5-year longitudinal analysis. J Med Econ. 2022;25(1):1140-1148.
  7. Udeze C, Evans KA, Yang Y, Lillehaugen T, Manjelievskaia J, Mujumdar U, Li N, Andemariam B. Economic and clinical burden of managing sickle cell disease with recurrent vaso-occlusive crises in the United States. Adv Ther. 2023;40:3543-3558.
  8. Campbell A, Cong Z, Agodoa I, Song X, Martinez DJ, Black D, Lew CR, Varker H, Chan C, Lanzkron S. The economic burden of end-organ damage among Medicaid patients with sickle cell disease in the United States: a population-based longitudinal claims study. 2020;26(9):1121-1129.
  9. Udeze C, Evans KA, Yang Y, Lillehaugen T, Manjelievskaia J, Mujumdar U, Li N, Andemariam B. Economic and clinical burden of managing transfusion-dependent β-thalassemia in the United States. J Med Econ. 2023;26(1):924-932.
  10. Parasuraman S, Thiel E. Park J, Teschemaker A. Productivity loss outcomes and costs among patients with cholangiocarcinoma in the United States: an economic evaluation. J Med Econ. 2023;26(1):454-462.
  11. Shah CH, Princic N, Evans KA, Schultz BG. Real-world changes in costs over time among patients in the United States with hereditary angioedema on long-term prophylaxis with lanadelumab. J Med Econ. 2023;6(1):871-877.
  12. Sung VW, Iyer RG, Gandhi SK, Abler V, Davis B, Irwin DE, Anderson KE. Retrospective analysis of healthcare resource use, treatment patterns, and treatment-related events in patients with Huntington’s disease-associated chorea initiated on tetrabenzine. J Health Econ Outcomes Res. 2018;6(1):15-24.
  13. Burger CD, Ozbay AB, Lazarus HM, Riehle E, Montejano LB, Lenhart G, White JR. Treatment patterns and associated health care costs before and after treatment initiation among pulmonary arterial hypertension patients in the United States. J Manag Care Spec Pharm. 2018;24(8):834-842.