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    <h1>Rare Diseases</h1>
    <p>The ABS team has extensive experience conducting various strategic and tactical, prospective and retrospective research and consulting services in rare diseases. Examples of this work are presented here.</p>
    <h2>Indications</h2>
    <ul>
      <li>Acromegaly</li>
      <li>Crohn’s disease</li>
      <li>Cystic fibrosis</li>
      <li>Fabry disease</li>
      <li>Gastrointestinal stromal tumor (GIST)</li>
      <li>Growth hormone deficiency</li>
      <li>Hemophilia</li>
      <li>Leukemias (different types)</li>
      <li>Mucopolysaccharidosis (MPS) I <br />
          - Hurler, Hurler-Scheie, and Scheie diseases</li>
      <li>MPS II / Hunter syndrome</li>
      <li>Myelodysplastic syndrome</li>
      <li>Niemann-Pick disease</li>
      <li>Post-transplant lymphoproliferative disorder</li>
      <li>Precocious puberty</li>
      <li>Preeclampsia</li>
      <li>Renal cell carcinoma (RCC)</li>
    </ul>
    <h2>Strategic Consulting and Research Examples</h2>
    <ul>
      <li>AMCP-compliant dossiers in renal cell carcinoma </li>
      <li>Economic reimbursement support dossier in leukemia</li>
      <li>Global conference on economics of rare diseases</li>
      <li>Global pricing in chronic myeloid leukemia and GIST</li>
      <li>Health-related quality of life (HRQL)  assessment strategy in growth hormone deficiency</li>
      <li>NICE dossier in metastatic renal cell cancer with adaptation for other markets </li>
      <li>Numerous systematic reviews in various rare solid and blood cancers</li>
      <li>Publication planning in RCC and GIST</li>
      <li>Strategic communication on the burden of Hurler / Hurler-Scheie / Scheie diseases</li>
      <li>Strategic market entry strategy for a renal disease complication</li>
      <li>Study of physician and patient perspectives for hemophilia and its treatments</li>
      <li>Systematic reviews in myelodysplastic syndrome and preeclampsia</li>
      </ul>
    <h2>Selected Prospective Studies</h2>
    <ul>
      <li>Assessment of clinical, economic, and HRQL burden of Fabry disease</li>
      <li>Data management for six cystic fibrosis clinical trials</li>
      <li>Design of patient registry in Crohn’s  disease </li>
      <li>Economic piggy-back evaluation in  leukemia clinical trial </li>
      <li>Epidemiology study of cystic fibrosis</li>
      <li>HRQL and productivity assessment in subset of patients with hemophilia</li>
      <li>HRQL assessment in Hunter syndrome</li>
      <li>HRQL instrument development and validation in MPS II / Hunter syndrome</li>
      <li>HRQL instrument validation in acromegaly</li>
      <li>Natural history study in Niemann-Pick disease in North America, Europe, and the Middle East</li>
      <li>Natural history study of Fabry disease</li>
      <li>Phase I study of a growth hormone for short stature in children</li>
      <li>Phase IIIb study of growth hormone for acromegaly</li>
      <li>Phase III study of a growth hormone antagonist for precocious puberty </li>
      <li>Phase IV clinical trial in a rare thyroid  disorder</li>
      <li>Pivotal clinical trials in MPS</li>
      <li>Registry programs in growth hormone  (pediatric), adult chronic myeloid  leukemia, renal cell carcinoma, and  autologous knee replacement</li>
      </ul>
    <h2>Selected Retrospective Studies and Modeling Studies</h2>
    <ul>
      <li>Analysis of outcomes and costs of patients treated with growth hormone</li>
      <li>Analysis of trends and treatment patterns in central precocious puberty</li>
      <li>Analysis of health outcomes and costs of patients treated with a growth hormone</li>
      <li>Assessment of trends and treatment patterns in central precocious puberty among commercially insured individuals</li>
      <li>Cost of illness studies for Fabry disease and MPS I</li>
      <li>Cost-effectiveness analysis of vaccine to prevent post-transplant lymphoproliferative disorder</li>
      <li>Cost-effectiveness of treatments for RCC </li>
      <li>Economic models in RCC for several markets in North America and Europe</li>
      </ul>

    <h2>Selected Publications &amp; Presentations of ABS Team Members</h2>
    <p>Lee WC, Joshi AV, Wolford S, Sumner M, Brown M, Hadker N, Pashos CL. Physicians’ preferences towards coagulation factor concentrates in the treatment of Haemophilia with inhibitors: A discrete choice experiment. Haemophilia 2008; 14(3): 454-65.</p>
    <p>Gupta K, Miller JD, Li JZ, Russell MW, Charbonneau C. Epidemiologic and socioeconomic burden of metastatic renal cell carcinoma (mRCC): a literature review. Cancer Treat Rev 2008; 34(3): 193-205.</p>
    <p>Gao X, Reddy P, Dhanda R, Gondek K, Yeh YC, Stadler WM, Jonasch E. Cost-effectiveness of sorafenib versus best supportive care in advanced renal cell carcinoma. American Society of Clinical Oncology, Annual Meeting, Atlanta, GA, June 2-6, 2006. </p>
    <p>Madison MT, Finegan Y, et al. Implementing natural history studies in rare diseases: The Niemann-Pick experience with rapidly changing national regulations in Europe and the Middle East. International Society for Pharmacoeconomics and Outcomes Research, 9th Annual European Congress, Copenhagen, Denmark, October 30, 2006.</p>
    <p>Joshi AV, Munro V, Russell MW. Cost-utility of somatropin (rDNA origin) in the treatment of growth hormone deficiency in children. Curr Med Res Opin 2006; 22(2): 351-57.</p>
    <p>Lang K, Earle CC , Foster T, et al. Trends in treatment of acute myeloid leukemia in the elderly. Drugs Aging 2005; 22(11): 943-55. </p>
    <p>Stephens JM, Gramegna P, Laskin B, Botteman MF, Pashos CL. Chronic lymphocytic leukemia: Economic burden and quality of life: Literature review. Am J Ther 2005; 12(5): 460-6.</p>
    <p>Redaelli A, Laskin BL, Stephens JM, Botteman MF, Pashos CL. A systematic literature review of the clinical and epidemiological burden of acute lymphoblastic leukemia. Eur J Cancer Care 2005; 14(1): 53-62. </p>
    <p>Redaelli A, Laskin BL, Stephens JM, Botteman MF, Pashos CL. The clinical and epidemiological burden of chronic lymphocytic leukaemia. Eur J Cancer Care 2004; 13: 279-87. </p>
    <p>Redaelli A, Botteman MF, Stephens JM, Brandt S, Pashos CL. Economic burden of acute myeloid leukemia: a literature review. Cancer Treat Rev 2004; 30(3): 237-47.</p>
    <p>Redaelli A, Bell C, Casagrande J, Stephens J, Botteman M, Laskin B, Pashos CL. Clinical and epidemiologic burden of chronic myelogenous leukemia. Expert Rev Anticancer Ther 2004; 4(1): 85-96. </p>
    <p>Redaelli A, Stephens JM, Brandt S, Botteman MF, Pashos CL. Short and long-term effects of acute myeloid leukemia on patient health-related quality of life. Cancer Treat Rev 2004; 30(1): 103-17. </p>
    <p>Lee JM, Turini M, Botteman MF, Stephens JM, Pashos CL. Economic burden of head and neck cancer: a literature review. Eur J Health Econ 2004; 5(1): 70-80.</p>
    <p>Redaelli A, Lee JM, Stephens JM, Pashos CL. The epidemiology and clinical burden of acute myeloid leukemia. Expert Rev Anticancer Ther 2003; 3(5): 695-710. </p>
    <p>Redaelli A, Stephens JM, Laskin BL, Pashos CL, et al. The burden and outcomes associated with four leukemias: AML, ALL, CLL and CML. Expert Rev Anticancer Ther 2003; 3(3): 311-29. </p>
    <p>Gold KF, Pastores GM, Botteman MF, Yeh JM, Sweeney S, Aliski W, Pashos CL. Quality of life of patients with Fabry disease. Qual Life Res 2002; 11(4): 317-27.</p>
    <p>Lenderking WR, Zacker C, Katznelson L, Vance ML, Hossain S, Tafesse E, Guacaneme AO , Pashos CL. The reliability and validity of the impact on lifestyle questionnaire in patients with acromegaly. Value Health 2000; 3(4): 261-69.</p>

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