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hrp0095fc7.6 | Growth and Syndromes | ESPE2022

The Multifaceted Burden Experienced by Caregivers of Individuals With Bardet-Biedl Syndrome: Findings from the CARE-BBS Study

Forsythe Elizabeth , Mallya Usha M. , Yang Min , Caroline , Lynn Mary , Grea Ali , Po Jeremy , Haqq Andrea M.

Background: Caregivers of patients with Bardet Biedl syndrome (BBS) face substantial burden from highly prevalent features of the disease, namely hyperphagia, or uncontrollable hunger, and obesity. However, the burden experienced by caregivers of individuals with BBS is not well characterized.Methods: A multicountry cross-sectional survey of caregivers of individuals with BBS was conducted to quantify the burden experien...

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hrp0097t8 | Section | ESPE2023

Design and Objectives of the Acorn Study: A Non-Interventional Study Evaluating Long-term Safety in Achondroplasia Patients Treated with Vosoritide

M Pimenta Jeanne , Cohen Shelda , Mukherjee Swati , Fettes Fiona , Jayaram Kala , Lausch Ekkehart , Mallya Usha G. , Min Yang , Caroline Huber , Cala Mary Lynn , Ali Greatsinger , Jeremy Pomeroy , Haqq Andrea M.

Introduction: Achondroplasia is caused by a pathogenic mutation in the FGFR3 gene, leading to impaired endochondral bone growth and multiple medical complications. Vosoritide, a modified recombinant human C-type natriuretic peptide (rhCNP), was approved by the European Medicines Agency (EMA) in August 2021 for treating genetically confirmed achondroplasia in patients aged ≥2 years until closure of epiphyses. Acorn is the first treatment-based registry for a...

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ESPE Abstracts

The Multifaceted Burden Experienced by Caregivers of Individuals With Bardet-Biedl Syndrome: Findings from the CARE-BBS Study

Design and Objectives of the Acorn Study: A Non-Interventional Study Evaluating Long-term Safety in Achondroplasia Patients Treated with Vosoritide

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