Purine Supplementation in Patients With AICA-Ribosiduria (PURICA)

PURICA : Purine Supplementation in Patients With AICA-Ribosiduria

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.

Study Overview

• Status: Recruiting
• Conditions: AICA-ribosiduria Due to ATIC Deficiency
• Intervention / Treatment: Dietary supplement: purine-rich diet

• Study Type: Interventional
• Enrollment (Estimated): 10
• Phase: Not Applicable

Contacts and Locations

• Study Contact: Name: Francis RAMOND, doctor of medicine; Phone Number: 33 0477828798; Email: Francis.Ramond@chu-st-etienne.fr
• Study Contact Backup: Name: Béatrice DEYGAS, Project manager; Email: beatrice.deygas@chu-st-etienne.fr

Study Locations

• France
  • Saint-Etienne, France, 42055
    • Recruiting
    • CHU Saint-Etienne
    • Contact: Francis RAMOND, Md; Phone Number: 33 0477828798; Email: francis.ramond@chu-st-etienne.fr

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No

Description

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

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Treatment
• Allocation: N/A
• Interventional Model: Sequential Assignment
• Masking: None (Open Label)

Number of Arms

1

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Experimental: Individual with AICA-ribosiduria due to ATIC deficiency	Dietary supplement: purine-rich diet; diet to achieve a purine intake of 160mg/d

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Urinary concentration	Urinary concentration of AICA-Riboside and Succinyladenoside in mmol/mol (same unit for both).	6 months

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Number of hospitalizations	Comparison of the number of hospitalizations per time unit during the 12 months preceding the introduction of treatment, and during periods when at least one of the biomarkers has a value below 50% of the baseline (considering that these periods correspond to treatment at an effective dose and duration).	12 months
Quality of life score	Measurement of quality of life scores before treatment, at the end of the first phase of treatment before elimination, and at the end of the study. Tool: standardised paediatric PedsQL parent-proxy scale (a scale designed to assess the overall impact on quality of life of a paediatric patient's health status, as reported by their parents, consisting of 23 questions rated from 0 to 5 and where higher scores indicate better quality of life). In the case of adult patients, the Short Form-36 scale is used, consisting of 36 questions divided into 8 dimensions (and with a score ranging from 0 to 100). Each question is evaluated on a Likert scale, with 3, 5 or 6 possible levels of response. The 8 dimensions are also used to calculate two individual quality of life scores: the Physical Composite Score (PCS) and the Mental Composite Score (MCS). The higher the score, the greater the ability.	6 months

Collaborators and Investigators

• Sponsor: Centre Hospitalier Universitaire de Saint Etienne
• Collaborators: University Hospital of Saint-Etienne
• Investigators: Principal Investigator: Francis RAMOND, doctor of medicine, Centre Hospitalier Universitaire de Saint Etienne

Study record dates

Study Major Dates

• Study Start (Actual): April 24, 2025
• Primary Completion (Estimated): March 1, 2027
• Study Completion (Estimated): May 1, 2029

Study Registration Dates

• First Submitted: February 20, 2025
• First Submitted That Met QC Criteria: February 20, 2025
• First Posted (Actual): February 25, 2025

Study Record Updates

• Last Update Posted (Actual): May 8, 2026
• Last Update Submitted That Met QC Criteria: May 5, 2026
• Last Verified: May 1, 2026

More Information

Terms related to this study

• Keywords: purine; AICA-Ribosiduria; ATIC
• Other Study ID Numbers: 24CH171; 2024-A02001-46 (Other Identifier: ANSM)

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO
• IPD Plan Description: For the moment, only one French center is conducting this study.

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No
• product manufactured in and exported from the U.S.: No