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Purine Supplementation in Patients With AICA-Ribosiduria

NCT06845501 · Status: RECRUITING · Phase: NA · Type: INTERVENTIONAL · Enrollment: 10

Last updated 2026-05-08

No results posted yet for this 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.

Conditions

  • AICA-ribosiduria Due to ATIC Deficiency

Interventions

DIETARY_SUPPLEMENT

purine-rich diet

diet to achieve a purine intake of 160mg/d

Sponsors & Collaborators

  • University Hospital of Saint-Etienne

    collaborator OTHER

  • Centre Hospitalier Universitaire de Saint Etienne

    lead OTHER

Principal Investigators

  • Francis RAMOND, doctor of medicine · Centre Hospitalier Universitaire de Saint Etienne

Study Design

Allocation
NA
Purpose
TREATMENT
Masking
NONE
Model
SEQUENTIAL

Eligibility

Min Age
3 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2025-04-24
Primary Completion
2027-03-31
Completion
2029-05-31

Countries

  • France

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT06845501 on ClinicalTrials.gov