Rare Diseases
Fishman J, Anderson S, Talbird SE, Dingli D. Analysis of costs per responder in US adults with a paroxysmal nocturnal hemoglobinuria with suboptimal response to prior eculizumab treatment. Hematol Rep. 2023 Oct 13;15(4):578-91. doi: 10.3390/hematolrep15040060
Joly F, DasMahapatra P, Su J, DiBenedetti D, Kosa K, Hill QA. Creation of a cold agglutinin disease (CAD) specific patient-reported outcome (PRO) symptom measure. Poster presented at the 84th Annual Meeting of the Japanese Society of Hematology; October 14, 2022. Fukuoka, Japan.
Abstract not available at this time.
Petrillo J, Paret K, Sawant R, Koenig A, Wolowacz S, Ronquest N, Rickards H. Estimation of health state utilities in Huntington's disease: a targeted review. Poster presented at the HSG 2022 Annual Meeting; November 2022. Tampa, FL. [abstract] J Huntingtons Dis. 2022 Oct 31; 11(s1):S31. Previously presented at the European Huntington's Disease Network (EHDN) 2022 Plenary Meeting. doi: 10.3233/JHD-229005
BACKGROUND: Quantifying the impact of Huntington’s Disease (HD) on patients’ health related quality of life (QoL) is critical to evaluating the disease burden and potential value of new therapeutics. This is often done by estimating health state utilities (HSU), which reflect preferences for various health states.
Martin S, Harris N, Romanus D. Evaluating meaningful changes in physical functioning and cognitive declines in metachromatic leukodystrophy: a caregiver interview study. J Patient Rep Outcomes. 2023 Jul 17;7(1):70. doi: 10.1186/s41687-023-00595-7
Petrillo J, Paret K, Sawant R, Koenig A, Wolowacz S, Ronquest N, Rickards H. Estimation of health state utilities in Huntington's disease: a targeted review. Poster presented at the European Huntington's Disease Network (EHDN) 2022 Plenary Meeting; September 18, 2022. Bologna, Italy. [abstract] J Neurol Neurosurg Psychiatry. 2022 Sep 12; 93(suppl 1):A45-6. doi: 10.1136/jnnp-2022-ehdn.118
BACKGROUND: Quantifying the impact of Huntington’s Disease (HD) on patients’ health related quality of life (QoL) is critical to evaluating the disease burden and potential value of new therapeutics. This is often done by estimating health state utilities (HSU), which reflect preferences for various health states.
Joly F, DasMahapatra P, DiBenedetti DB, Kosa K, Hill QA. Development of the cold agglutinin disease symptoms and impact questionnaire (CAD-SIQ). Eur J Haematol. 2023 Aug;111(2):211-9. doi: 10.1111/ejh.13984
OBJECTIVES: Cold agglutinin disease (CAD) is a rare autoimmune hemolytic anemia. This study aimed to identify disease-related symptoms and impacts important to patients with CAD, and to develop a novel CAD-specific patient-reported outcome measure.
Paret K, Ronquest N, Droege M. Economic modeling considerations for rare neurodegenerative diseases of infancy and early childhood. Poster presented at the ISPOR Europe 2022; November 9, 2022. Vienna, Austria. [abstract] Value Health. 2022 Dec 1; 25(12):S171. doi: 10.1016/j.jval.2022.09.830
Ronquest NA, Paret K, Lucas A, Ciepielewska M, Hagan M. Quantifying the value of introducing an oral drug delivery option for edaravone: a review of analyses evaluating the economic impact of oral versus intravenous formulations. Clinicoecon Outcomes Res. 2022 Jul 27;14:499-511. doi: 10.2147/CEOR.S359025
BACKGROUND: Drug formulation and route of administration can have an impact on not only patients’ quality of life and disease outcomes but also costs of care. It is essential for decision makers to use appropriate economic modeling methods to guide drug coverage policies and to support patients’ decision making.
Cotter SP, Schwartz L, Strong TV, Bender RH, Fehnel S. The Prader-Willi syndrome anxiousness and distress behaviors questionnaire: development and psychometric validation. Value Health. 2023 Feb 1;26(2):243-50. doi: 10.1016/j.jval.2022.08.004
OBJECTIVES: To facilitate the development of new therapies for Prader-Willi syndrome (PWS), we sought to develop a reliable and valid assessment of anxiousness and distress, common characteristics that have a significant negative impact on individuals with PWS and their families.