AICA-ribosiduria Due to ATIC Deficiency
Conditions
Keywords
AICA-Ribosiduria, ATIC, purine
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.
Interventions
DIETARY_SUPPLEMENTpurine-rich diet
diet to achieve a purine intake of 160mg/d
Sponsors
Centre Hospitalier Universitaire de Saint Etienne
University Hospital of Saint-Etienne
Study design
Allocation
NA
Intervention model
SEQUENTIAL
Primary purpose
TREATMENT
Masking
NONE
Intervention model description
prospective, N-of-1 trial, comparative before/after study
Eligibility
Sex/Gender
ALL
Age
3 Years to No maximum
Healthy volunteers
No
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Urinary concentration | 6 months | Urinary concentration of AICA-Riboside and Succinyladenoside in mmol/mol (same unit for both). |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Number of hospitalizations | 12 months | 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). |
| Quality of life score | 6 months | 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. |
Countries
France
Contacts
CONTACTFrancis RAMOND, doctor of medicine
CONTACTBéatrice DEYGAS, Project manager
PRINCIPAL_INVESTIGATORFrancis RAMOND, doctor of medicine
Centre Hospitalier Universitaire de Saint Etienne
Outcome results
None listed