Purine Supplementation in Patients With AICA-Ribosiduria

NCT06845501 | Recruiting

• 2 other identifiers: 24CH1712024-A02001-46
• Study Type: interventional
• Target: 10
• Locations: 1 country
• Sites: 1

Brief 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

Keywords

AICA-Ribosiduria; ATIC; purine

Outcome Measures

Primary Outcomes (1)

• Urinary concentration

  Urinary concentration of AICA-Riboside and Succinyladenoside in mmol/mol (same unit for both).

  6 months

Secondary Outcomes (2)

• Number of hospitalizations

  12 months

• Quality of life score

  6 months

Study Arms (1)

Individual with AICA-ribosiduria due to ATIC deficiency

EXPERIMENTAL

Individual with AICA-ribosiduria due to ATIC deficiency

Dietary Supplement: purine-rich diet

Interventions

purine-rich diet DIETARY_SUPPLEMENT

diet to achieve a purine intake of 160mg/d

Individual with AICA-ribosiduria due to ATIC deficiency

Eligibility Criteria

• Age: 3 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

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

Sponsors & Collaborators

• Centre Hospitalier Universitaire de Saint Etienne: lead
• University Hospital of Saint-Etienne: collaborator

Study Sites (1)

Chu Saint-Etienne

Saint-Etienne, 42055, France

RECRUITING

Study Officials

• Francis RAMOND, doctor of medicine

  Centre Hospitalier Universitaire de Saint Etienne

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Francis RAMOND, doctor of medicine

CONTACT

0477828798; Francis.Ramond@chu-st-etienne.fr

Béatrice DEYGAS, Project manager

CONTACT

beatrice.deygas@chu-st-etienne.fr

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: TREATMENT
• Intervention Model: SEQUENTIAL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Model Details: prospective, N-of-1 trial, comparative before/after study

Study Record Dates

• First Submitted: February 20, 2025
• First Posted: February 25, 2025
• Study Start: April 24, 2025
• Primary Completion (Estimated): March 1, 2027
• Study Completion (Estimated): May 1, 2029
• Last Updated: April 27, 2025

Record last verified: 2025-04

Data Sharing

• IPD Sharing: Will not share

Locations

FR (1)