Purine Supplementation in Patients With AICA-Ribosiduria
Recruiting
N/A
Interventional Study
AICA-ribosiduria Due to ATIC Deficiency
No Placebo Group
Every participant receives an active treatment — no one gets a placebo.
At a Glance
- Age
- 3 and older
- Sex
- Any
- Study type
- Interventional
- Purpose
- Treatment
- Participants needed
- 10 (estimated)
- Sponsor
- Centre Hospitalier Universitaire de Saint Etienne · Other
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About This Trial
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…
Trial Locations
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Eligibility Criteria
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
Contacts