Purine-rich diet for patients with AICA-ribosiduria
PURICA : Purine Supplementation in Patients With AICA-Ribosiduria
This study is testing whether a purine-rich diet can help people with AICA-ribosiduria feel better by reducing their symptoms.
Quick facts
| Phase | Not applicable |
|---|---|
| Study type | Interventional |
| Enrollment | 10 (estimated) |
| Ages | 3 Years and up |
| Sex | All |
| Sponsor | Centre Hospitalier Universitaire de Saint Etienne Academic / other |
| Locations | 1 site (Saint-Etienne) |
| Trial ID | NCT06845501 on ClinicalTrials.gov |
What this trial studies
This study investigates the effects of a purine-rich diet on patients suffering from AICA-ribosiduria due to ATIC deficiency, a rare genetic metabolic disorder. The research aims to replicate previous findings that suggested a decrease in disease biomarkers after dietary intervention. By enrolling multiple patients, the study seeks to evaluate the potential benefits of this dietary approach in managing severe symptoms associated with the condition. The study is designed to provide insights into the efficacy of dietary changes in treating this orphan disease.
Who should consider this trial
Good fit: Ideal candidates for this study are individuals diagnosed with AICA-ribosiduria due to ATIC deficiency.
Not a fit: Patients who are already on a purine-rich diet may not benefit from this study due to theoretical contraindications.
Why it matters
Potential benefit: If successful, this approach could significantly improve the quality of life for patients with AICA-ribosiduria by alleviating severe symptoms and potentially reducing disease biomarkers.
How similar studies have performed: Previous studies have shown promising results with dietary interventions in similar conditions, suggesting potential for success in this approach.
Eligibility criteria
Show full inclusion / exclusion 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
Where this trial is running
Saint-Etienne
- Chu Saint-Etienne — Saint-Etienne, France (Recruiting)
Study contacts
- Principal investigator: Francis RAMOND, doctor of medicine — Centre Hospitalier Universitaire de Saint Etienne
- Study coordinator: Francis RAMOND, doctor of medicine
- Email: Francis.Ramond@chu-st-etienne.fr
- Phone: 0477828798
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.