Research Project

Project Title:

OCULAR BIOMARKERS - Validation of ocular OCT-based biomarkers for corneal and systemic disease activity in infantile nephropathic cystinosis

Project Type:

Clinical Trial, Enrolment ongoing

Disease group(s):


Project Summary:

Cystinosis is a lysosomal cystine storage disease that leads to cystine crystal deposition throughout the body and thus in various ocular structures. At the University Eye Hospital of the Ludwig Maximilians University in Munich, 56 patients have been regularly studied since 2018. Due to the integration to the German interdisciplinary cystinosis consultation, acquired ocular findings can be related to systemic parameters and to genetic mutations. Cystinosis represents one of the few lysosomal storage diseases that can be effectively treated topically and via an oral therapy. Therefore, a particular interest of our previous and current studies is to identify novel biomarkers that may enable long-term improvement of treatment compliance and therapeutic outcome. In preliminary works, our group developed the optical coherence tomography (OCT)-based retinochoroidal cystine crystal score (RCCCS), as the first described system for the quantification and scaling of the extent of retinochoroidal cystine crystal deposition, and as the first stable measurement method for systemic disease activity. Similarly, preliminary work has developed the first objective measurement method for monitoring corneal cystine crystal deposition. One goal of the project is to establish the RCCCS as the first stable biomarker for therapy adherence to systemic therapy by correlation with internal and genetic findings in the long-term course and to establish the corneal crystal score for therapy adherence to topical therapy.

Lead principal investigator(s):

L Keidel, Rosenheim
C Priglinger, Rosenheim


Katharina Hohenfellner, Rosenheim

Project Period:

10/2021   -   10/2026


Non-profit foundation

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