AICA-ribosiduria Due to ATIC DeficiencyPURICANCT06845501
Purine Supplementation in Patients With AICA-Ribosiduria
A study testing purine-rich diet in people with AICA-ribosiduria Due to ATIC Deficiency, run by Centre Hospitalier Universitaire de Saint Etienne at 1 site in France.
Trial summary
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. Read more about this study
- Who is it for?
- Ages 3 years and older
- Conditions the study is for
- AICA-ribosiduria Due to ATIC Deficiency
- What is being tested?
- purine-rich diet
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 10 participants
- Where
- 1 siteFrance
- Study dates
- 24 Apr 2025to May 2029
- Phase
- Interventional
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 3 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Who may be able to join
- Individual affected by AICA-ribosiduria due to ATIC deficiency
Who cannot join
- Individual already on a purine-rich diet theoretical contraindication to a purine-rich diet
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Béatrice DEYGAS, Project manager contact
France1 site, 1 recruiting
- Recruiting
Chu Saint-Etienne
Saint-Etienne, 42055
Francis RAMOND, Md, 0477828798 ext. 33, francis.ramond@chu-st-etienne.fr
About this study
Official title: PURICA : Purine Supplementation in Patients With AICA-Ribosiduria
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.
- Conditions
- AICA-ribosiduria Due to ATIC Deficiency
- Being tested
- purine-rich diet
- Keywords
- AICA-Ribosiduria, ATIC, purine
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
purine-rich dietDietary supplement
diet to achieve a purine intake of 160mg/d
| Study group | Role | What they receive |
|---|---|---|
| Individual with AICA-ribosiduria due to ATIC deficiency | Experimental | Individual with AICA-ribosiduria due to ATIC deficiency Receives: Dietary Supplement: purine-rich diet |
What is being measured
The primary outcome is the main question the study is designed to answer.
Urinary concentration
Urinary concentration of AICA-Riboside and Succinyladenoside in mmol/mol (same unit for both).
Measured: 6 months
Secondary outcomes (2)
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).
Measured: 12 months
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.
Measured: 6 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted25 Feb 2025
- Study start24 Apr 2025
- Primary completionMar 2027 (estimated)
- Study completionMay 2029 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for AICA-ribosiduria Due to ATIC DeficiencyStudies of the same condition, open and under way.
- More trials run by Centre Hospitalier Universitaire de Saint EtienneThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Sequential
- Model description
- prospective, N-of-1 trial, comparative before/after study
- Masking
- None (open label)
- Enrolment
- 10 participants (estimated)
Sponsor and investigators
- Sponsor type
- University, hospital or other
- Collaborators
- University Hospital of Saint-Etienne
- Responsible party
- Sponsor
- Investigators
- Francis RAMOND, doctor of medicine, Principal investigator, Centre Hospitalier Universitaire de Saint Etienne
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06845501
- Sponsor's protocol ID
- 24CH171
- Other IDs
- 2024-A02001-46
- Acronym
- PURICA
- Status last verified
- May 2026
- First submitted
- 20 Feb 2025
- Last updated
- 8 May 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No: For the moment, only one French center is conducting this study.
Study at a glance
From the registry record, last updated by the sponsor on 8 May 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- PURICA : Purine Supplementation in Patients With AICA-Ribosiduria
- ClinicalTrials.gov ID
- NCT06845501
- Acronym / sponsor ID
- PURICA / 24CH171
- Conditions
- AICA-ribosiduria Due to ATIC Deficiency
- Keywords
- AICA-Ribosiduria, ATIC, purine
- Study type
- Interventional
- Recruitment status
- Recruiting
- Enrolment
- 10 participants (estimated)
- Lead sponsor
- Centre Hospitalier Universitaire de Saint EtienneUniversity, hospital or other
- Collaborators
- University Hospital of Saint-Etienne
- Study start
- 24 Apr 2025 (actual)
- Primary completion
- Mar 2027 (estimated)
- Study completion
- May 2029 (estimated)
- First posted
- 25 Feb 2025 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Sequential
- Masking
- None (open label)
- Number of arms
- 1
- Model description
- prospective, N-of-1 trial, comparative before/after study
| Arm | Type | Receives |
|---|---|---|
| Individual with AICA-ribosiduria due to ATIC deficiency | Experimental | Dietary Supplement: purine-rich dietIndividual with AICA-ribosiduria due to ATIC deficiency |
Who may qualify
- Ages
- 3 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (1 listed)
- Individual affected by AICA-ribosiduria due to ATIC deficiency
Key exclusion criteria (1 listed)
- Individual already on a purine-rich diet theoretical contraindication to a purine-rich diet
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| purine-rich dietdiet to achieve a purine intake of 160mg/d | Dietary supplement | Individual with AICA-ribosiduria due to ATIC deficiency |
Primary outcome
Urinary concentration
Time frame: 6 months
Urinary concentration of AICA-Riboside and Succinyladenoside in mmol/mol (same unit for both).
2 secondary outcomes
Number of hospitalizations
Time frame: 12 months
Quality of life score
Time frame: 6 months
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 8 May 2026.
- Individual participant dataSharing planned: No. For the moment, only one French center is conducting this study.
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Béatrice DEYGAS, Project manager contact
Francis RAMOND, doctor of medicine principal investigator
Centre Hospitalier Universitaire de Saint Etienne
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing purine-rich diet in people with AICA-ribosiduria Due to ATIC Deficiency, run by Centre Hospitalier Universitaire de Saint Etienne at 1 site in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 1 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 8 May 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Francis RAMOND, doctor of medicine (0477828798 ext. 33, Francis.Ramond@chu-st-etienne.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Urinary concentration (time frame: 6 months). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 8 May 2026.