Development and evaluation of RhizoQOL, a quality-of-life caregiver-reported survey for rhizomelic chondrodysplasia punctata, a rare peroxisomal disorder
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.
Authors
- Ariel Berkowitz
- Adrian L. Kerrihard (ORCID: https://orcid.org/0000-0003-2471-6655)
- Mousumi Bose (ORCID: https://orcid.org/0000-0002-0913-7738)
- Tara Smith (ORCID: https://orcid.org/0000-0002-1702-8910)
- Tahra C. Anglade
- Chelsea I. Donlon
- Hila F. Berger
- Shawn Ritchie (ORCID: https://orcid.org/0000-0002-2061-4937)
Institutions
- Rutgers, The State University of New Jersey (US)
- Howard University (US)
- Montclair State University (US)
- Phenomenome Discoveries (Canada) (CA)
Publication Details
- Journal
- Orphanet Journal of Rare Diseases
- Published
- 2025-03-31
- DOI
- https://doi.org/10.1186/s13023-025-03660-0
- Primary Topic
- Peroxisome Proliferator-Activated Receptors
- Type
- article
- Field-Weighted Citation Impact
- 0.00