Actively Recruiting
Purine Supplementation in Patients With AICA-Ribosiduria
Led by Centre Hospitalier Universitaire de Saint Etienne · Updated on 2026-05-08
10
Participants Needed
1
Research Sites
209 weeks
Total Duration
On this page
Sponsors
C
Centre Hospitalier Universitaire de Saint Etienne
Lead Sponsor
U
University Hospital of Saint-Etienne
Collaborating Sponsor
AI-Summary
What this Trial Is About
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
Official Title
Purine Supplementation in Patients With AICA-Ribosiduria
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Individual affected by AICA-ribosiduria due to ATIC deficiency
You will not qualify if you...
- Individual already on a purine-rich diet
- Theoretical contraindication to a purine-rich diet
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 1 location
1
Chu Saint-Etienne
Saint-Etienne, France, 42055
Actively Recruiting
Research Team
F
Francis RAMOND, doctor of medicine
CONTACT
B
Béatrice DEYGAS, Project manager
CONTACT
How is the study designed?
Study Type
INTERVENTIONAL
Masking
NONE
Allocation
NA
Model
SEQUENTIAL
Primary Purpose
TREATMENT
Number of Arms
1
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