Condition: AICA-ribosiduria Due to ATIC Deficiency · Sponsor: Centre Hospitalier Universitaire de Saint Etienne
AICA-Ribosiduria due to ATIC deficiency is a rare genetic metabolic disease that affects less than 10 patients (PMID: 32557644). It results in severe polyhandicap linked to neurodevelopmental disorders, visual impairment, growth retardation, severe spinal deformities and scoliosis, and often early-onset epilepsy. The disease is caused by dysfunction of the ATIC enzyme, which is involved in de novo purine biosynthesis. A recent study (PMID: 38244287) reported a decrease in disease biomarkers in a single patient after 3 months on a purine-rich diet, which persisted for at least 1 year. The investigators propose to replicate this study on several patients to investigate the potential of this treatment for this severe orphan disease.
This description comes directly from the study's public registry record.
Francis RAMOND, doctor of medicine · 0477828798 · Francis.Ramond@chu-st-etienne.fr
Béatrice DEYGAS, Project manager · beatrice.deygas@chu-st-etienne.fr
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| Chu Saint-Etienne | Saint-Etienne, France | Recruiting |
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Source record: clinicaltrials.gov/study/NCT06845501