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Cystinosis

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Ophthalmology

Clinical Validation of the UCI Corneal Cystine Crystal Score: Linking Objective Imaging and Symptom Burden in Cystinosis

The University of California, Irvine Corneal Cystine Crystal Score (UCI CCCS) is validated as a reliable slit-lamp grading tool correlating with corneal densitometry and symptoms in cystinosis, though not visual acuity, highlighting its val

Nov 3, 2026
Hematology-Oncology

Breaking the Cystine Barrier: Long-term Safety and Efficacy of CTNS-RD-04 Gene Therapy in Cystinosis

A phase 1-2 trial shows that autologous hematopoietic stem-cell gene therapy (CTNS-RD-04) safely reduces lysosomal cystine levels in patients with cystinosis, potentially offering a definitive alternative to lifelong cysteamine therapy.

Feb 22, 2026

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