Rare Diseases

Percy AK, Ryther R, Marsh ED, Neul JL, Benke TA, Berry-Kravis EM, Feyma T, Lieberman DN, Ananth AL, Fu C, Buhrfiend C, Barrett A, Doshi D, Darwish M, An D, Bishop KM, Youakim JM. Results from the phase 2/3 DAFFODIL study of trofinetide in girls aged 2-4 years with Rett syndrome. Med. 2025 Feb 28. doi: 10.1016/j.medj.2025.100608


Abbatemarco J, Yu J, Kleman M, Myers K, Poulos C, Conway D. Patient preferences for treatment features in Neuromyelitis Optica Spectrum Disorder (NMOSD): results from a discrete choice experiment (DCE). Poster presented at the American Academy of Neurology 2025 Annual Meeting; April 5, 2025. San Diego, CA. [abstract] Neurology. 2025 Apr 8; 104(7_Suppl 1):7-8.013. doi: 10.1212/WNL.0000000000208724


OBJECTIVE: To quantify preferences and predict treatment choices between ravulizumab and other approved treatments (eculizumab, inebilizumab, satralizumab) among US adults with anti-aquaporin-4 antibody-positive (AQP4-Ab+) NMOSD.

Yee K, Poulos C, Bussberg C, Myers K. Patient characteristics associated with treatment preference for generalized Myasthenia Gravis (gMG): a multivariate analysis. Poster to be given at the ISPOR Europe 2024; November 17, 2025. Barcelona, Spain. [abstract] Value Health. 2024 Dec; 27(12 Suppl):S524-5.


Dellon ES, Goodwin B, Liu Y, de los Santos B, Korgaonkar S, Meyers J, Schaeffer-Koziol CR, Terreri B, Shah ED. Healthcare resource utilization and associated costs in patients with eosinophilic esophagitis: a retrospective cohort study of US health insurance claims data. Poster presented at the Digestive Disease Week (DDW) 2025; May 3, 2025. San Diego, CA.


INTRODUCTION: Eosinophilic esophagitis (EoE) represents a substantial burden to healthcare systems; however, the economic burden on patients is understudied. We report all-cause healthcare resource utilization (HCRU) and cost data for patients with EoE in the USA from the perspective of payers and patients.

Greenhawt M, Bansal P, Goodwin B, Korgaonkar S, Liu Y, Meyers J, Shah E, Terreri B, Dellon E, Schaeffer-Koziol C. High incidence and prevalence of eosinophilic esophagitis in the USA identified: an analysis of US health insurance claims data. Poster presented at the 2025 American Academy of Allergy Asthma & Immunology (AAAAI)/WAO Joint Congress; February 28, 2025. San Diego, CA.


RATIONALE: Our aim was to examine the incidence and prevalence of eosinophilic esophagitis (EoE) in the USA.

Dellon ES, Goodwin B, Liu E, de los Santos B, Korgaonkar S, Meyers J, Schaeffer-Koziol CR, Terreri B, Shah ED. Eosinophilic esophagitis-related healthcare resource utilization and associated costs for payers and patients: a retrospective cohort study of US health insurance claims data. Poster presented at the ISPOR 2025; May 14, 2025. Montréal, Canada.


OBJECTIVES: This study assessed eosinophilic esophagitis (EoE)-related healthcare resource utilization (HCRU) and associated costs for patients with EoE in the USA from the perspective of payers and patients.

Craig T, Baptist AP, Anderson J, Zaragoza-Urdaz RH, Burnette AF, Kelbel TE, Riedl MA, Vanegas A, Boyle K, Bartsch JL, Darden C, Brown TM, Schultz BG, Blair C, Sing K, Fox D, Juethner S. Hereditary angioedema: patient health care experiences within underrepresented racial and ethnic groups in the United States. Ann Allergy Asthma Immunol. 2025 Apr;134(4):465-473.e. doi: 10.1016/j.anai.2025.01.007


BACKGROUND: Hereditary angioedema (HAE) is a rare disorder in which unpredictable angioedema attacks significantly impact patient quality of life (QoL). There is limited information regarding patient experiences and perspectives of HAE management within underrepresented racial and ethnic groups.

Buck P, Sweeney C, Georgieva M, Kunzweiler C, Tossonian H, Boyle K, Chirila C, Crawford R, Wolowacz S, Pesch M. Family spillover impact of congenital CMV in the United States and Canada: study methodology. Poster presented at the European Congenital Cytomegalovirus Initiative (ECCI) 2024; October 9, 2024. Leiden, the Netherlands.


Johannesen K, Herring WL, Chopra R, Elpers B, Dong O. Using patient-level simulation to estimate long-term survival in idiopathic pulmonary fibrosis. Poster presented at the ISPOR Europe 2024; November 17, 2024. Barcelona, Spain. [abstract] Value Health. 2024 Dec; 27(12 Supplement):S459-60. doi: 10.1016/j.jval.2024.10.2345


Perreault S, Hukin J, Erker C, Silayuv EB, Hamilton MA, Kim Y, Jimenez MI, Candrilli SD. Treatment patterns and healthcare resource utilization of pediatric patients with neurofibromatosis type 1 and unresectable plexiform neurofibroma in Canada. Poster presented at the 2024 Global NF Conference; June 20, 2024. Brussels, Belgium.


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