Purine Supplementation in Patients With AICA-Ribosiduria (PURICA)

Centre Hospitalier Universitaire de Saint Etienne

Status: Enrolling

Conditions: AICA-ribosiduria Due to ATIC Deficiency

Treatments: Dietary Supplement: purine-rich diet

Study type: Interventional

Funder types: Other

Identifiers

NCT06845501

24CH171

2024-A02001-46 (Other Identifier)

Details and patient eligibility

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.

Enrollment: 10 estimated patients

Sex: All

Ages: 3+ years old

Volunteers: No Healthy Volunteers

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

Trial design

Primary purpose: Treatment

Allocation: N/A

Interventional model: Sequential Assignment

Masking: None (Open label)

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10 participants in 1 patient group

Individual with AICA-ribosiduria due to ATIC deficiency

Experimental group

Description:

Individual with AICA-ribosiduria due to ATIC deficiency

Treatment:

Dietary Supplement: purine-rich diet