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Purine Supplementation in Patients With AICA-Ribosiduria

NCT ID: NCT06845501

Last Updated: 2025-04-27

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Clinical Phase

NA

Total Enrollment

10 participants

Study Classification

INTERVENTIONAL

Study Start Date

2025-04-24

Study Completion Date

2029-05-31

Brief Summary

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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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Detailed Description

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Conditions

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AICA-ribosiduria Due to ATIC Deficiency

Study Design

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Allocation Method

NA

Intervention Model

SEQUENTIAL

prospective, N-of-1 trial, comparative before/after study
Primary Study Purpose

TREATMENT

Blinding Strategy

NONE

Study Groups

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Individual with AICA-ribosiduria due to ATIC deficiency

Individual with AICA-ribosiduria due to ATIC deficiency

Group Type EXPERIMENTAL

purine-rich diet

Intervention Type DIETARY_SUPPLEMENT

diet to achieve a purine intake of 160mg/d

Interventions

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purine-rich diet

diet to achieve a purine intake of 160mg/d

Intervention Type DIETARY_SUPPLEMENT

Eligibility Criteria

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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
Minimum Eligible Age

3 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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University Hospital of Saint-Etienne

OTHER

Sponsor Role collaborator

Centre Hospitalier Universitaire de Saint Etienne

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Francis RAMOND, doctor of medicine

Role: PRINCIPAL_INVESTIGATOR

Centre Hospitalier Universitaire de Saint Etienne

Locations

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Chu Saint-Etienne

Saint-Etienne, , France

Site Status RECRUITING

Countries

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France

Central Contacts

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Francis RAMOND, doctor of medicine

Role: CONTACT

[email protected]
0477828798 ext. 33

Béatrice DEYGAS, Project manager

Role: CONTACT

[email protected]

Facility Contacts

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Francis RAMOND, Md

Role: primary

[email protected]
0477828798 ext. 33

Other Identifiers

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2024-A02001-46

Identifier Type: OTHER

Identifier Source: secondary_id

24CH171

Identifier Type: -

Identifier Source: org_study_id

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