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Rare disease research

Our combined real-world data and extensive therapeutic expertise supports evidence generation strategies for rare disease.


Creating an evidence generation strategy

There are 7,000 distinct types of rare and genetic disease, affecting about 1 in 10 people in the United States.1 However, up to 95% of rare diseases lack an FDA-approved treatment.2

The natural history of rare disease is often poorly understood, and well-characterized efficacy endpoints are not available. In addition, health care coding systems under-represent populations with these conditions. 

The Optum HEOR team uses real-world data to fill out a clearer picture of a treatment’s effectiveness and patient’s experience. The team can help you: 

  • Quantify existing treatment patterns and demonstrate effectiveness of treatments using electronic health record (EHR) data
  • Define rules to help clients identify relevant patient populations
  • Understand patient and provider perspectives through panel data and Voice-to-Claim research
  • View the pre- and post-diagnosis patient journey using data to understand symptoms, treatments, outcomes, health care utilization, and pharmacy and medical costs
  • Find patterns in data associated with prediction and progression using modeling and machine learning
  • Define and measure rare disease outcomes to collaborate on a value-based contract

Gain invaluable insights about rare disease

Discover risk factors for developing a disease

Get the treatment selection and line of therapy

Gain short- and long-term outcomes and costs

Discover complications that require supportive care

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Using RWD to close the rare disease data gap

Explore the ways pharma is addressing challenges in rare disease, investing in the space and leveraging real-world data.

Yu J, Lal LS, Anderson A, DuCharme M, Parasuraman S, Weisdorf D. Healthcare resource utilization and costs among patients with steroid-resistant chronic graft-versus-host disease in the United States: a retrospective claims database analysis.  Curr Med Res Opin. 2021;37(5):755-9.

Cisternas M, Bartolome L, Gitar B, Hulbert E, Trenz H, Patel V, Johnson K, Russo PA. Health Care Resource Utilization and Disease Modifying Treatment Use in Multiple Sclerosis Patients by Age and Insurance Type.  Curr Med Res Opin. 2021 Feb 4:1. doi: 10.1080/03007995.2021.1885367. Epub ahead of print. PMID: 33535846.

Lal LS, Said Q, Andrade K, Cuker A. Second-line treatment patterns and outcomes for immune thrombocytopenia: a retrospective study of electronic health records.   Res Pract Thromb Haemost. 2020;00:1-10.

Engel-Nitz NM, Johnson MP, Bunner SH, Ryan KJ. Real-World Costs of Adverse Events in First-Line Treatment of Metastatic Non-Small Cell Lung Cancer.   J Manag Care Spec Pharm. 2020 Jun;26(6):729-40.

Nicholas J, Halpern R, Ziehn M, Peterson-Brandt J, Leszko M, Deshpande C. Real-world cost of treatment for multiple sclerosis patients initiating and receiving infused disease-modifying therapies per recommended label in the United States.  JME. 2020 May;16:1-9

Farej R, Batt K, Afonja O, Martin C, Aubert R, Carlyle M, White J, Sidonio Jr RF. Characterizing female patients with haemophilia A: Administrative claims analysis and medical chart review. Haemophilia. 2020;26(3):520-28.

Yu J, Lal L, Anderson A, DuCharme M, Parasuraman S, Weisdorf D. . Healthcare resource utilization and costs associated with acute graft-versus-host disease following allogeneic hematopoietic cell transplantation: Data from a large national health insurer. Support Care Cancer. 2020;28(11):5491–99.

Reyes C, Engel-Nitz N, DaCosta Byfield S, Ravelo A, Ogale S, Bancroft T, Anderson A, Chen M, Matasar M. Cost of disease progression in patients with chronic lymphocytic leukemia, acute myeloid leukemia, and non-Hodgkin's lymphoma. Oncologist. 2019 Sep; 2(9):1219-28.

Swindle JP, Xu Y, Mu Y, Solari PG. Healthcare costs among patients with hemophilia A treated with factor replacement or bypassing agents.  Curr Med Res Opin. 2019 Aug;35(8):1433-40.

Highland KB, Hull M, Pruett J, Elliott C, Tsang Y, Drake W. Baseline history of patients using selexipag for pulmonary arterial hypertension.  Ther Adv Respir Dis. 2019 Jan-Dec;13:1-13.

Teal S, Auger WR, Hughes RJ3 Ramey DR, Lewis KS, O'Brien G, Yaldo A, Burton TM, Bancroft T, Seare J, Fabian J. Validation of a claims-based algorithm to identify patients with chronic thromboembolic pulmonary hypertension using electronic health record data. Pulm Circ. 2019 Jan-Mar; 9(1):2045894018814772.

Studer S, Hull M, Pruett J, Koep E, Tsang Y, Drake W. Treatment patterns, healthcare resource utilization, and healthcare costs among patients with pulmonary arterial hypertension in a real-world US database.  Pulm Circ. 2018; 9(1):1-12.

Burton T, LaPuerta P. Economic analysis of inadequate symptom control in carcinoid syndrome in the United States.  Future Oncol. 2018 Oct;14(23):2361-70.

Fust K, Parthan A, Li X, Sharma A, Zhang X, Campioni M, Lin J, Wang X, Zur R, Cetin K, Eisen M, Chandler D. Cost per response analysis of strategies for chronic immune thrombocytopenia. Am J Manag Care. 2018 Jul;24(8 Spec No):SP294-SP302.

Hull M, Pruett J, Tsang Y, Elliott C, Drake W. Healthcare costs and resource utilization prior to initiation of a prostacyclin receptor agonist for pulmonary arterial hypertension in a real-world database representing a large US health plan.  Value in Health. 2018 May;21(1):S59.

Campos MA, Runken MC, Davis AM, Johnson MP, Stone GA, Buikema AR. Impact of a health management program on healthcare outcomes among patients on augmentation therapy for alpha 1-antitrypsin deficiency: An insurance claims analysis.  Adv Ther. 2018 Apr;35(4):467-81.

Hull M, Pruett J, Elliott C, Tsang Y, Drake W. Treatment patterns prior to initiation of a prostacyclin receptor agonist for pulmonary arterial hypertension in a real-world database representing a large US heath plan.  J Manag Care Spec Pharm. 2018 Apr;24(4-a Suppl):S69.

Engel-Nitz NM, Boscoe A, Wolbeck R, Johnson J, Silvestri NJ. Burden of illness in patients with treatment refractory myasthenia gravis.  Muscle Nerve. 2018 Feb 27;58:99-105.

Williams MJ, Johnson K, Trenz HM, Korrer S, Halpern R, Park Y, Herrera V. Adherence, persistence, and discontinuation among Hispanic and African American patients with multiple sclerosis treated with fingolimod or glatiramer acetate.  Curr Med Res Opin. 2018 Jan;34(1):107-15.

Villalobos VM, Byfield SD, Ghate SR, Adejoro O. A retrospective cohort study of treatment patterns among patients with metastatic soft tissue sarcoma in the US.  Clin Sarcoma Res. 2017 Nov 9;7:18.

Mao J, McPheeters JT, Zhang D, Acosta C, Finelli L. Herpes zoster incidence and disease burden among patients undergoing autologous hematopoietic stem cell transplant in a large US population.  Curr Med Res Opin. 2017 Oct;25:1-9.

Johnson MP, Johnson JC, Engel-Nitz NM, Said Q, Prestifilippo J, Gipson TT, Wheless J. Management of a rare disease population: A model for identifying a patient population with tuberous sclerosis complex.  Manag Care. 2017 Aug;26(8):34-41.

Thayer S, Bell C, McDonald CM. The direct cost of managing a rare disease: Assessing medical and pharmacy costs associated with duchenne muscular dystrophy in the United States. J Manag Care Spec Pharm. 2017 Jun;23(6):633-41.

Rubin JL, Thayer S, Watkins A, Wagener JS, Hodgkins PS, Schechter MS. Frequency and costs of pulmonary exacerbations in patients with cystic fibrosis in the United States.  Curr Med Res Opin. 2017 Apr;33(4):667-74.

Hull M, Pruett J, Koep E, Tsang Y, Drake W. Characteristics of patients treated for pulmonary arterial hypertension in real-world database representing a large US health plan. J Manag Care Spec Pharm. 2017 Mar;23(3-a Suppl):S71.

Fust K, Parthan A, Maschio M, Gu Q, Li X, Lyman GH, Tzivelekis S, Villa G ,Weinstein MC. Granulocyte colony-stimulating factors in the prevention of febrile neutropenia: Review of cost-effectiveness models.  Expert Rev Pharmacoecon Outcomes Res. 2017 Feb;17(1):39-52.

Mao J, Mcpheeters J, Zhang D, Acosta C, Finelli L. Herpes zoster incidence and disease burden among patients underwent autologous hematopoietic stem cell transplant 2006-2011 in a large, insured US population.  Open Forum Infectious Diseases. 2016 Dec 1;3(1):2345.

Burton T, Le Nestour E, Neary M, Ludlam W. Incidence and prevalence of acromegaly in a large US health plan database.  Pituitary. 2016 Jun;19(3):262-67.  

Burton T, Le Nestour E, Neary M, Ludlam W. Algorithm development and the clinical and economic burden of Cushing’s disease in a large US health plan database.  Pituitary. 2016  Apr;19(2):167-74.

Cartier S, Zhang B, Rosen VM, Zarotsky V, Bartlett JB, Mukhopadhyay P, Wagner S, Davis C. Relationship between treatment effects on progression-free survival and overall survival in multiple myeloma: a systemic review and meta-analysis of published clinical trial data.  Oncol Res Treat. 2015;38(3):88-94.

Burke JP, Hunsche E, Reguiler E, Nagao M, Buzinec P, Drake III W. Characterizing pulmonary hypertension-related hospitalization costs among Medicare Advantage or commercially insured patients with pulmonary arterial hypertension: A retrospective database study.  Am J Manag Care. 2015 Jan;21(3 Suppl):S47-S58.

Sikirica M, Iorga SR, Bancroft T, Potash J. The economic burden of pulmonary arterial hypertension (PAH) in the US payers and patients.  BMC Health Serv Res. 2014 Dec 24;14:676.

Zarotsky V, Huang MY, Carman W, Morgentaler A, Singhal PK, Coffin D, Jones TH. Systematic literature review of the risk factors, comorbidities, and consequences of hypogonadism in men.  Andrology. 2014 Nov;2(6):819-34.

Smith BD, Mahmoud D, Dacosta-Byfield S, Rosen VM. Health care utilization and risk of infection and bleeding among MDS patients during periods of transfusion dependence or independence, with or without active therapy.  Leuk Lymphoma. 2014 May;55(5):1119-25.

Marsico M, Mehta V, Chastek B, Liaw KL, Derkay C. Estimating the incidence and prevalence of juvenile-onset recurrent respiratory papillomatosis in publicly and privately insured claims databases in the United States.  Sex Transm Dis. 2014 May;41(5):300-05.

Smith BD, Beach CL, Mahmoud D, Weber L, Henk HJ. Survival among patients with acute myeloid leukemia treated with azacitidine or decitabine in a large managed care population: a real-world, retrospective, claims-based, comparative analysis.  Exp Hematol Oncol. 2014 Mar 25;3(1):10.

Blanchette CM, Iorga SR, Altan A, Seare JG, Fan Y, Rossetti S, Gutierrez B. Healthcare resource utilization and costs associated with autosomal dominant polycystic kidney disease.  JHEOR. 2014;2(1):63-74.

Christian JB, Arondekar B, Buysman EK, Jacobson TA, Snipes RG, Horwitz I. Determining triglyceride reductions needed for clinical impact in severe hypertriglyceridemia.  Am J Med. 2014 Jan;127(1):36-44.

Burton T, Le Nestour E, Bancroft T, Neary M. Real-world comorbidities and treatment patterns of patients with acromegaly in two large US health plan databases.  Pituitary. 2013 Sep;16(3):354-62.

Henk HJ, Chen C, Benedict A, Sullivan J, Teitelbaum A. Retrospective claims analysis of best supportive care costs and survival in a US metastatic renal cell population.  Clinicoecon Outcomes Res. 2013 Jul;5:347-54.

Reyes C, DaCosta Byfield S, Linke R, Satram-Hoang S, Teitelbaum AH. The burden of metastatic melanoma: treatment patterns, healthcare use (utilization), and costs.  Melanoma Res. 2013 Apr;23(2):159-66.

Furst DE, Fernandes AW, Iorga SR, Greth W, Bancroft T. Annual medical costs and health care resource use in patients with systemic sclerosis (SSc) in an insured population.  J Rheumatol. 2012 Dec;39(12):2303-09.

Copher R, Cerulli A, Watkins A, Monsalvo ML. Treatment patterns and healthcare system burden of managed care patients with suspected pulmonary arterial hypertension in the United States.  J Med Econ. 2012 Oct 1;15(5):947-55.

Furst DE, Amato A, Iorga S, Gajria K, Fernandes A. Epidemiology of idiopathic inflammatory myopathies in a US managed care plan.  Muscle Nerve. 2012 May;45(5):676-83.

Henk HJ, Teitelbaum A, Perez JR, Kaura S. Persistency with zoledronic acid is associated with clinical benefit in patients with multiple myeloma.  Am J Hematol. 2012 May;87(5):490-95.

Furst DE, Fernandes AW, Iorga SR, Greth W, Bancroft T. Epidemiology of systemic sclerosis in a large US managed population. J Rheumatol. 2012 Apr;39(4):784-86.

O'Sullivan AK, Weinstein MC, Pandya A, Thompson D, Langston AA, Perfect JR, Papadopoulos G. Cost-effectiveness of posaconazole versus fluconazole for prevention of invasive fungal infections in US patients with graft-versus-host disease.  Am J Health Syst Pharm. 2012 Jan 15;69:149-56.

Halpern R, Agarwal S, Borton L, Oneacre K, Lopez-Bresnahan MV. Adherence and persistence among multiple sclerosis patients after one immunomodulatory therapy failure: retrospective claims analysis.  Adv Ther. 2011 Sep;28(9):761-75.

Amonkar MM, Chastek B, Samant N, Teitelbaum A. Economic burden of resected squamous cell carcinoma of the head and neck in a US managed-care population.  J Med Econ. 2011;14(4):421-32.

O'Sullivan AK, Sullivan J, Higuchi K, Montgomery B. Health care utilization & costs For cystic fibrosis patients with pulmonary infections.  Manag Care. 2011 Feb;20(2):37-44.

Halpern R, Agarwal S, Dembek C, Borton L, Lopez-Bresnahan M. Comparison of adherence and persistence among multiple sclerosis patients treated with disease modifying therapies: a retrospective administrative claims analysis.  Patient Prefer Adherence. 2011 Jan;5:73-84.

Angalakuditi M, Buysman E, Edgell E, Bancroft T, Beardsworth A. Treatment patterns and resource utilization and costs among patients with pulmonary arterial hypertension in the United States.  J Med Econ. 2010 May;13(3):393-402.

Chastek B, Oleen-Burkey M, Lopez-Bresnahan MV. Medical chart validation of an algorithm for identifying multiple sclerosis relapse in healthcare claims. J Med Econ. 2010;13(4):618-25.

Frytak J, Henk HJ, De Castro CM, Halpern R, Nelson M. Estimation of economic costs associated with transfusion dependence in adults with MDS.  Curr Med Res Opin. 2009 Aug;25(8):1941-51.

Halpern R, Barghout V, Zarotsky V, Williams D. Adherence with imatinib and health care utilization and costs for patients with CML and GIST.   J Clin Outcomes Manage. 2009 May;16(5):215-23.

Schech SD, Brinker A, Shatin D, Burgess M. New-onset and idiopathic thrombotic thrombocytopenic purpura: Incidence, diagnostic validity, and potential risk factors.  Am J Hematol. 2006 Sep;81(9):657-63.

Braun L, Riedel AA, Cooper LM. Severe sepsis in managed care: analysis of incidence, one-year mortality, and associated costs of care.  J Manag Care Pharm. 2004 Nov-Dec;10(6):521-30.

Complementary solutions

Strengthen your value story with HEOR

Tap into our expertise in health economics and outcomes research.

Voice-to-Claim Research

The Optum® HEOR Primary Data Collection (PDC) team focuses on real-world evidence generation through primary and secondary data.

Engage payers with value-based contracts

Assess the fit, develop metrics and track care outcomes over time.


Better understand diseases and drug development opportunities.

1. FDA. Rare Diseases: Natural History Studies for Drug Development, Guidance for Industry. Published March 2019.

2. EveryLife Foundation for Rare Diseases. The EveryLife Mission. Accessed June 11, 2024.m exercitationem ullam corporis suscipit laboriosam.