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 Type
INTERVENTIONAL
Allocation
NA
Purpose
TREATMENT
Masking
NONE
Enrollment
10
diet to achieve a purine intake of 160mg/d
Chu Saint-Etienne
Saint-Etienne, France
RECRUITINGUrinary concentration
Urinary concentration of AICA-Riboside and Succinyladenoside in mmol/mol (same unit for both).
Time frame: 6 months
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).
Time frame: 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.
Time frame: 6 months
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