Rare Disease & Orphan Drug Research

We have extensive experience in supporting orphan drugs for various rare diseases, including rare cancers, ultra-rare genetic disorders, neurological diseases, and autoimmune diseases. We have a deep understanding of the unique challenges (e.g., limited data, small market, growing pricing pressure and competition) and opportunities (e.g., high unmet needs, relatively easy approval process, extended market exclusivity period, and relative payer openness) associated with rare disease research. In this work, we have used a variety of data sources including registries, clinical trials, chart reviews, and claims data. 

We have conducted various types of HEOR work for rare diseases, including: 

  • Estimating prevalence for multiple rare diseases 
  • Providing consultation on early trial design 
  • Supporting and presenting at joint FDA/industry workshops to address challenges in bringing rare disease drugs to market
  • Evaluating the burden of rare disease and conducting comparative analysis 
  • Developing economic models 
  • Conducting HEOR planning and strategy development 
  • Supporting global Health Technology Assessment submission 
  • Collaborating with rare disease foundations on registry design, patient and caregiver surveys, and database analyses
  • Developing and validating instruments for measuring patient-reported outcomes and health care resource use 
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Selected Examples of Our Work

  • Jordan L, Adams-Graves P, Kanter-Washko J, Oneal PA, Sasane M, Vekeman F, Bieri C, Magestro M, Marcellari A, Duh MS. Multicenter COMPACT Study of COMplications in Patients with Sickle Cell Disease and Utilization of Iron Chelation Therapy. Curr Med Res Opin. 2014 Dec 31:1–11.
  • Strosberg JR, Benson AB, Huynh L, Duh MS, Goldman J, Sahai V, Rademaker AW, Kulke MH. Clinical Benefits of Above-Standard Dose of Octreotide LAR in Patients with Neuroendocrine Tumors for Control of Carcinoid Syndrome Symptoms: A Multicenter Retrospective Chart Review Study. Oncologist. 2014 Sep;19(9):930–936.
  • Carlozzi NE, Victorson D, Sung V, Beaumont JL, Cheng W, Gorin B, Duh MS, Samuelson D, Tulsky D, Gutierrez S, Nowinski CJ, Mueller A, Shen V, Frank S. HD-PRO-TRIAD™ Validation: A Patient-Reported Instrument for the Symptom Triad of Huntington’s Disease. Tremor Other Hyperkinet Mov. 2014 Apr 14;4:223.
  • Truong HL, Nellesen D, Ludlam WH, Neary MP. Budget Impact of Pasireotide for the Treatment of Cushing’s Disease, a Rare Endocrine Disorder Associated with Considerable Comorbidities. J Med Econ. 2014 Apr;17(4):288–295.
  • Garrison LP Jr, Wang ST, Huang H, Ba-Mancini A, Shi H, Chen K, Korves C, Dhawan R, Cakana A, van de Velde H, Corzo D, Duh MS. The Cost-Effectiveness of Initial Treatment of Multiple Myeloma in the US with Bortezomib Plus Melphalan and Prednisone Versus Thalidomide Plus Melphalan and Prednisone or Lenalidomide Plus Melphalan and Prednisone with Continuous Lenalidomide Maintenance Treatment. Oncologist. 2013; 18(1):27–36. 
  • Kakkis ED, Signorovitch J. The Randomized Blind Start Trial: A New Study Design to Assess Clinical Outcomes in Rare, Heterogeneous Patient Populations. 12th International Congress of Inborn Errors of Metabolism (ICIEM), Barcelona, Spain, 3-6 September 2013. (Poster).
  • Chen L, Guérin A, Xie J, Wu EQ, Yu AP, Ericson SG, Jabbour E. Monitoring and Switching Patterns of Patients with Chronic Myeloid Leukemia Treated with Imatinib in Community Settings: A Chart Review Analysis. Curr Med Res Opin. 2012 Nov; 28(11):1831–1839. Epub date 2012 Nov 5.
Selected Examples of Our Work