CystinosisNCT00822250
Clinical and Biological Study of Sub-pigmentation During Infantile Cystinosis
A study testing analysis of pigmentation in people with Cystinosis, run by Centre Hospitalier Universitaire de Nice at 1 site in France.
Trial summary
The purpose of this study is to determine the molecular mechanism of this disease and to research the relationship between cystinosis and skin phenotype. Read more about this study
- Who is it for?
- Ages 1 year to 15 years
- Conditions the study is for
- Cystinosis
- What is being tested?
- analysis of pigmentation
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 30 participants
- Where
- 1 siteFrance
- Study dates
- Apr 2008to Dec 2009
- Phase
- Interventional
- Are there results?
- None posted in the registry
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 1 year to 15 years
- All sexes
- No healthy volunteers
- Child
Who may be able to join
- cystinosis
- known CTNS mutation
Who cannot join
- patient with corticotherapy treatment
- patient with immunosuppressant treatment
Trial locations and contacts
1 site in 1 country.
About this study
The purpose of this study is to determine the molecular mechanism of this disease and to research the relationship between cystinosis and skin phenotype.
- Conditions
- Cystinosis
- Being tested
- analysis of pigmentation
- Medical subject headings
- Cystinosis
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
analysis of pigmentationOther
Also called surgical biopsy, skin examination
cutting hair, skin description, skin biopsy for only 4 patients
| Study group | Role | What they receive |
|---|---|---|
| 1 | Other | cutting hair, skin phenotype description Receives: Other: analysis of pigmentation |
What is being measured
The primary outcome is the main question the study is designed to answer.
to determine molecular mechanism of the disease
Measured: at time= 0
Secondary outcomes (1)
to research relationship between skin phenotype and cystinosis
Measured: at time =0
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted14 Jan 2009 (estimated)
- Study startApr 2008
- Primary completionDec 2009
- Study completionDec 2009
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for CystinosisStudies of the same condition, open and under way.
- More trials run by Centre Hospitalier Universitaire de NiceThe 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
- Basic science
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 30 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Centre Hospitalier Universitaire de Nice
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00822250
- Sponsor's protocol ID
- 07-PP-05
- Status last verified
- Mar 2026
- First submitted
- 13 Jan 2009
- Last updated
- 31 Mar 2026
- Results posted
- No
- Data monitoring committee
- No
Publications
Chiaverini C, Kang HY, Sillard L, Berard E, Niaudet P, Guest G, Cailliez M, Bahadoran P, Lacour JP, Ballotti R, Ortonne JP. In vivo reflectance confocal microscopy of the skin: a noninvasive means of assessing body cystine accumulation in infantile cystinosis. J Am Acad Dermatol. 2013 Apr;68(4):e111-e116. doi: 10.1016/j.jaad.2011.08.010. Epub 2011 Oct 2.
PubMed 21963264
Study at a glance
From the registry record, last updated by the sponsor on 31 Mar 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Clinical and Biological Study of Sub-pigmentation During Infantile Cystinosis
- ClinicalTrials.gov ID
- NCT00822250
- Acronym / sponsor ID
- 07-PP-05
- Conditions
- Cystinosis
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 30 participants (estimated)
- Lead sponsor
- Centre Hospitalier Universitaire de NiceUniversity, hospital or other
- Study start
- Apr 2008
- Primary completion
- Dec 2009 (actual)
- Study completion
- Dec 2009 (actual)
- First posted
- 14 Jan 2009 (estimated)
- 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.
The purpose of this study is to determine the molecular mechanism of this disease and to research the relationship between cystinosis and skin phenotype.
Study design
- Primary purpose
- Basic science
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| 1 | Other | Other: analysis of pigmentationcutting hair, skin phenotype description |
Who may qualify
- Ages
- 1 year to 15 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child
Key inclusion criteria (2 listed)
- cystinosis
- known CTNS mutation
Key exclusion criteria (2 listed)
- patient with corticotherapy treatment
- patient with immunosuppressant treatment
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 |
|---|---|---|
| analysis of pigmentationAlso: surgical biopsy, skin examinationcutting hair, skin description, skin biopsy for only 4 patients | Other | 1 |
Primary outcome
to determine molecular mechanism of the disease
Time frame: at time= 0
1 secondary outcome
to research relationship between skin phenotype and cystinosis
Time frame: at time =0
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 31 Mar 2026.
- Results publication: PubMed 21963264Chiaverini C, Kang HY, Sillard L, Berard E, Niaudet P, Guest G, Cailliez M, Bahadoran P, Lacour JP, Ballotti R, Ortonne JP. In vivo reflectance confocal microscopy of the skin: a noninvasive means of assessing body cystine accumulation in infantile cystinosis. J Am Acad Dermatol. 2013 Apr;68(4):e111-e116. doi: 10.1016/j.jaad.2011.08.010. Epub 2011 Oct 2.
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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. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing analysis of pigmentation in people with Cystinosis, run by Centre Hospitalier Universitaire de Nice 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 2 inclusion and 2 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: finished, as of the sponsor's last update on 31 Mar 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?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
to determine molecular mechanism of the disease (time frame: at time= 0). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT00822250, which also lists 1 linked publication.
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 31 Mar 2026; AzTrials last refreshed its copy on 8 Nov 2026.