Development and evaluation of RhizoQOL, a quality-of-life caregiver-reported survey for rhizomelic chondrodysplasia punctata, a rare peroxisomal disorder

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Authors

Mousumi Bose · Montclair State University

Tahra C. Anglade · Howard University

Chelsea I. Donlon · Montclair State University

Adrian L. Kerrihard · Montclair State University

Hila F. Berger · Rutgers, The State University of New Jersey

Ariel Berkowitz · Montclair State University

Shawn Ritchie

Abstract

The final RhizoQOL survey instrument, consisting of 23 questions, assesses the symptoms and experiences of RCDP patients as observed by caregivers and serves as a novel clinical outcome assessment for RCDP therapeutic clinical trials to assess the impacts of RCDP and support the overall effectiveness of treatments.

Topics & Keywords

Peroxisome Proliferator-Activated Receptors Bone and Joint Diseases Osteoarthritis Treatment and Mechanisms

Publication Details

Published in: Orphanet Journal of Rare Diseases

Volume 20, Issue 1, pp. 147-147

DOI: 10.1186/s13023-025-03660-0

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Development and evaluation of RhizoQOL, a quality-of-life caregiver-reported survey for rhizomelic chondrodysplasia punctata, a rare peroxisomal disorder

Authors

Abstract

Topics & Keywords

Publication Details