NCT06845501

Purine Supplementation in Patients With AICA-Ribosiduria

PURICA : Purine Supplementation in Patients With AICA-Ribosiduria

• Status: Recruiting
• Phase: N/A
• Study type: Interventional
• Enrollment: 10 (estimated)
• Sponsor: Centre Hospitalier Universitaire de Saint Etienne · Academic / Other
• Sex: All
• Age: 3 Years
• Healthy volunteers: Not accepted

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.

Conditions

• AICA-ribosiduria Due to ATIC Deficiency

Interventions

Type	Name	Description
DIETARY_SUPPLEMENT	purine-rich diet	diet to achieve a purine intake of 160mg/d

Timeline

• Start date: 2025-04-24
• Primary completion: 2027-03-01
• Completion: 2029-05-01
• First posted: 2025-02-25
• Last updated: 2025-04-27

Locations

1 site across 1 country: France