NIH R01 · 2025
Oral Ciclopirox Treatment for Congenital Erythropoietic Porphyria.
ABSTRACT To address the unmet need for an effective treatment for the ultra-rare porphyria, Congenital Erythropoietic Porphyria (CEP), we propose a phase 1/2 clinical trial to be conducted by a team of porphyria experts experienced in successful clinical trials for other porphyrias. CEP is an autosomal recessive inborn error of heme biosynthesis resulting from mostly missense mutations that markedly reduce the activity of the heme biosynthetic enzyme, uroporphyrinogen synthase (UROS), resulting in the massive accumulation of the non- physiologic and phototoxic porphyrins, uroporphyrin and coproporphyrin I isomers. Pathophysiologically, the pathogenic porphyrins accumulate in erythroid…
From the public funding record at NIH RePORTER. Describes the funded project, not the reviews below.