Purine Supplementation in Patients With AICA-Ribosiduria

Recruiting now · Not applicable

Conditions studied: AICA-ribosiduria Due to ATIC Deficiency

In brief

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.

Key facts

Study ID

NCT06845501

Run by

Centre Hospitalier Universitaire de Saint Etienne

People needed

10

Starts

2025-04-24

Expected to finish

2029-05-01

Last updated by the study team

2026-05-08

Who can join

Age: 3 and older. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• Individual affected by AICA-ribosiduria due to ATIC deficiency

You may not qualify if…

• Individual already on a purine-rich diet theoretical contraindication to a purine-rich diet

Where it is running

• Chu Saint-Etienne — Saint-Etienne, France (enrolling)

Full record on ClinicalTrials.gov

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