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Cystinosis symposium: a rare disease model for comprehensive care
Ashley M Gefen1, Frederick J Kaskel2,3, Joshua J Zaritsky1
1Division of Nephrology, Department of Pediatrics, Phoenix Children's Hospital, Phoenix, AZ, United States.
Frontiers in Pediatrics
|August 8, 2025
Summary
A rare disease symposium highlighted gaps in cystinosis care, fostering collaboration among researchers, clinicians, and families. The event aimed to share knowledge and develop strategies for a cure for cystinosis.
Area of Science:
- Rare Disease Research
- Medical Care Models
- Patient Advocacy
Background:
- Cystinosis is a rare genetic disorder with significant unmet needs in patient care.
- Existing care models often lack comprehensive, multidisciplinary approaches for individuals with cystinosis.
- A dedicated forum was needed to address these deficiencies and promote collaborative research.
Purpose of the Study:
- To establish a collaborative platform for cystinosis research and care.
- To identify and address critical gaps in the management of cystinosis.
- To disseminate new information and foster awareness within the cystinosis community.
Main Methods:
- Convened the Cystinosis Symposium: A Rare Disease Model for Comprehensive Care on May 31, 2024.
- Brought together multidisciplinary healthcare providers, educators, and families.
- Focused on themes applicable to improving cystinosis patient outcomes.
Main Results:
- The symposium served as a crucial forum for advancing cystinosis research and care.
- Identified key areas for improvement in the comprehensive management of cystinosis.
- Facilitated knowledge exchange among diverse stakeholders in the cystinosis community.
Conclusions:
- Enhanced collaboration is essential for addressing the complexities of cystinosis.
- Developing a unified algorithm can guide future research and clinical practice towards a cure.
- Continued focus on multidisciplinary care is vital for improving the lives of individuals with cystinosis.
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