Purine Supplementation in Patients With AICA-Ribosiduria
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- The protocol lists: purine-rich diet.
- Who it may be relevant to
- Registry conditions: AICA-ribosiduria Due to ATIC Deficiency. Basic parameters: from 3 years · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- France
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
Unsure about the terms? Read our patient guide →
Official title
PURICA : Purine Supplementation in Patients With AICA-Ribosiduria
Overview
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.
Interventions
- Dietary supplement purine-rich diet
diet to achieve a purine intake of 160mg/d
Primary outcome measures
- Urinary concentration [Time frame: 6 months]
Secondary outcome measures (2)
- Number of hospitalizations [Time frame: 12 months]
- Quality of life score [Time frame: 6 months]
Eligibility criteria
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
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Allocation
- N/A
- Model
- Sequential
- Masking
- Open label
- Primary purpose
- Treatment
Study locations
France · 1 center
- Chu Saint-Etienne — Saint-Etienne
Identifiers
NCT: NCT06845501 · 24CH171 · 2024-A02001-46