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Clinical Trials in France / NCT06845501
Recruiting Not applicable

Purine Supplementation in Patients With AICA-Ribosiduria

NCT06845501 · tracked via the Priya Life Science France tracker
Sponsor
Centre Hospitalier Universitaire de Saint Etienne
Phase
Not applicable
Started
2025-04-24
Last updated
2026-05-08

Condition(s) studied

AICA-ribosiduria Due to ATIC Deficiency

Investigational drug(s) / intervention(s)

purine-rich diet

purine-rich diet: diet to achieve a purine intake of 160mg/d

Study summary

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.

Eligibility

Sex
ALL
Min age
3 Years
Max age
—
Healthy volunteers
No
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

Primary outcome measure(s)

Trial sites (1)

FacilityCityRegionStatus
Chu Saint-Etienne Saint-Etienne France Recruiting

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Official registry record

This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.

View NCT06845501 on ClinicalTrials.gov ↗ ← All trials in France