Purine Supplementation in Patients With AICA-Ribosiduria

Launched by CENTRE HOSPITALIER UNIVERSITAIRE DE SAINT ETIENNE · Feb 20, 2025

Keywords

ClinConnect Summary

This clinical trial is studying the effects of purine supplementation in patients with AICA-ribosiduria, a rare genetic condition caused by a deficiency of a specific enzyme called ATIC. This condition can lead to serious health issues, including developmental delays, vision problems, growth issues, and severe spinal deformities. Researchers want to see if increasing the intake of purines—substances that are important for cell growth—can help improve the health of patients with this condition. A previous study suggested that a purine-rich diet might help reduce some disease markers in one patient, and now the goal is to see if this treatment can be effective for more patients.

To be eligible for this trial, individuals must be diagnosed with AICA-ribosiduria due to ATIC deficiency. However, those who are already following a purine-rich diet cannot participate. If someone is selected for the study, they can expect to follow a specific diet rich in purines for a set period, and researchers will monitor their health closely to see if this treatment improves their condition. It's important for families to know that this trial is not yet recruiting participants, but it represents a hopeful step towards finding better treatments for this challenging condition.

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Eligibility criteria

• Inclusion Criteria:
• • Individual affected by AICA-ribosiduria due to ATIC deficiency
• Exclusion Criteria:
• • - Individual already on a purine-rich diet theoretical contraindication to a purine-rich diet