Cystinosis Symposium: A Rare Disease Model for Comprehensive Care

In the last two decades, significant progress has been made in our understanding of nephropathic cystinosis. These advancements include the development of effective treatments to slow down the progression of cystinosis from childhood into adulthood, along with the potential for gene therapies to eventually cure this lifelong condition. However, despite these positive developments, there are notable gaps and challenges in providing comprehensive care to pediatric patients and their families. These challenges include the need for earlier genetic recognition, timely diagnosis, and the establishment of multidisciplinary healthcare teams spanning primary care, various sub-specialists, social work, nutritionists, educators, and quality of life navigators.

During the recent symposium held in May, leading experts in the field of cystinosis care convened to address these deficiencies. The event focused on themes relevant to healthcare providers, educators, and families, aiming to disseminate new information and raise awareness within the cystinosis community. The symposium provided invaluable insights into the current state of cystinosis care, highlighting new research findings and practical strategies for improving patient outcomes.

The ultimate goal of the symposium was to provide a roadmap for navigating a more promising future towards a cure, ensuring that patients and families receive the inclusive and beneficial care they deserve.

We invite contributions that:
• Review recent advances in our understanding of cystinosis, its pathophysiology, and improvements in outcomes.
• Address the identification of gaps and challenges in the current knowledge base, particularly concerning early recognition, the need for multidisciplinary team engagement, and the transition of care from pediatrics to adulthood.
• Explore strategies for developing effective multidisciplinary healthcare teams across the patient's life course.

We acknowledge the funding of the manuscripts published in this Research Topic by the Cystinosis Research Network. We hereby state publicly that Cystinosis Research Network has had no editorial input in articles included in this Research Topic, thus ensuring that all aspects of this Research Topic are evaluated objectively, unbiased by any specific policy or opinion of Cystinosis Research Network.

Article types and fees

This Research Topic accepts the following article types, unless otherwise specified in the Research Topic description:

• Brief Research Report
• Case Report
• Classification
• Clinical Trial
• Data Report
• Editorial
• FAIR² Data
• FAIR² DATA Direct Submission
• General Commentary
• ... View all formats

Articles that are accepted for publication by our external editors following rigorous peer review incur a publishing fee charged to Authors, institutions, or funders.

Article types

This Research Topic accepts the following article types, unless otherwise specified in the Research Topic description:

• Brief Research Report
• Case Report
• Classification
• Clinical Trial
• Data Report
• Editorial
• FAIR² Data
• FAIR² DATA Direct Submission
• General Commentary
• Hypothesis and Theory
• Methods
• Mini Review
• Opinion
• Original Research
• Perspective
• Policy and Practice Reviews
• Policy Brief
• Review
• Study Protocol
• Systematic Review
• Technology and Code

Keywords: Cystinosis, Nephropathic cystinosis, Multidisciplinary care, Gene therapies, Pathophysiology

Important note: All contributions to this Research Topic must be within the scope of the section and journal to which they are submitted, as defined in their mission statements. Frontiers reserves the right to guide an out-of-scope manuscript to a more suitable section or journal at any stage of peer review.