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| ID | Type | Description | Link |
|---|---|---|---|
| 2024-A02001-46 | Other Identifier | ANSM |
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| Name | Class |
|---|---|
| University Hospital of Saint-Etienne | OTHER |
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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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Individual with AICA-ribosiduria due to ATIC deficiency | Experimental | Individual with AICA-ribosiduria due to ATIC deficiency |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| purine-rich diet | Dietary Supplement | diet to achieve a purine intake of 160mg/d |
|
| Measure | Description | Time Frame |
|---|---|---|
| Urinary concentration | Urinary concentration of AICA-Riboside and Succinyladenoside in mmol/mol (same unit for both). | 6 months |
| Measure | Description | Time Frame |
|---|---|---|
| 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). | 12 months |
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Inclusion Criteria:
Exclusion Criteria:
- Individual already on a purine-rich diet theoretical contraindication to a purine-rich diet
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| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Francis RAMOND, doctor of medicine | Contact | 0477828798 | 33 | Francis.Ramond@chu-st-etienne.fr |
| Béatrice DEYGAS, Project manager | Contact | beatrice.deygas@chu-st-etienne.fr |
| Name | Affiliation | Role |
|---|---|---|
| Francis RAMOND, doctor of medicine | Centre Hospitalier Universitaire de Saint Etienne | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Chu Saint-Etienne | Recruiting | Saint-Etienne | 42055 | France |
For the moment, only one French center is conducting this study.
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prospective, N-of-1 trial, comparative before/after study
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| 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. | 6 months |