Clinical and Biological Study of Sub-pigmentation During... | NCT00822250

Studies
Clinical and Biological Study of Sub-pigmentation During Infantile Cystinosis

NCT00822250

Sponsor

Centre Hospitalier Universitaire de Nice

Status

Completed

Last Update Posted

Mar 31, 2026Actual

Enrollment

30Estimated

Phase

Not Applicable

Conditions

Cystinosis

Interventions

analysis of pigmentation

Countries

France

Protocol Section

Identification Module Status Module Sponsor/Collaborators Module Oversight Module Description Module Conditions Module Design Module Arms/Interventions Module Outcomes Module Eligibility Module Contacts/Locations Module References Module IPD Sharing Statement Module

Results Section

Participant Flow Module Baseline Characteristics Module Outcome Measures Module Adverse Events Module More Info Module

Annotation Section

Annotation Module

Document Section

Large Document Module

Derived Section

Miscellaneous Info Module Condition Browse Module Intervention Browse Module

Protocol Section

Identification Module

NCT ID

Results Section

No data available

No data is available for this block.

Annotation Section

No data available

No data is available for this block.

Document Section

No data available

No data is available for this block.

Derived Section

Miscellaneous Info Module

Version Holder

Status Module

Record Verification Date

Mar 2026

Overall Recruitment Status or Expanded Access Status

Completed

Last Known Status

Not provided

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

Apr 2008

Primary Completion Date

Dec 2009Actual

Completion Date

Dec 2009Actual

First Submitted Date

Jan 13, 2009

First Submission Date that Met QC Criteria

Jan 13, 2009

First Posted Date

Jan 14, 2009Estimated

Results Waived

Not provided

Results First Submitted Date

Not provided

Results First Submitted that Met QC Criteria

Not provided

Results First Posted Date

Not provided

Certification/Extension (aka Delayed Results) First Submitted Date

Not provided

Certification/Extension First Submitted that Passed QC Review

Not provided

Certification/Extension First Posted Date

Not provided

Last Update Submitted Date

Mar 26, 2026

Last Update Posted Date

Mar 31, 2026Actual

Oversight Module

Has Data Monitoring Committee (DMC)

Is FDA Regulated Drug

Not provided

Is FDA Regulated Device

Not provided

Is Unapproved Device

Not provided

Pediatric Postmarket Surveillance of a Device Product

Not provided

Product Exported from US

Not provided

FDAAA801 Violation

Not provided

Description Module

Brief 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.

Detailed Description

Not provided

Design Module

Study Type

Interventional

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Not provided

Target Follow-Up Duration

Not provided

Phases

Not Applicable

Interventional Study Design

Allocation

Biospecimen

No data available

No data is available for this block.

Enrollment

30Estimated

Arms/Interventions Module

Arm Groups

Label	Type	Description	Intervention Names
1	Other	cutting hair, skin phenotype description	Other: analysis of pigmentation

Interventions

Name	Type	Description	Arm Group Labels	Other Names
analysis of pigmentation	Other	cutting hair, skin description, skin biopsy for only 4 patients	1

Outcomes Module

Primary Outcomes

Measure	Description	Time Frame
to determine molecular mechanism of the disease		at time= 0

Secondary Outcomes

Measure	Description	Time Frame
to research relationship between skin phenotype and cystinosis		at time =0

Other Outcomes

Not provided

Eligibility Module

Eligibility Criteria

Inclusion Criteria:

cystinosis
known CTNS mutation

Exclusion Criteria:

patient with corticotherapy treatment
patient with immunosuppressant treatment

Accepts Healthy Volunteers

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

1 Year

Maximum Age

15 Years

Standard Ages

Child

Study Population

Not provided

Sampling Method

Not provided

Contacts/Locations Module

Central Contacts

Not provided

Overall Officials

Not provided

Locations

Facility	Status	City	State	ZIP	Country	Contacts
department of dermatology, Nice University Hospital		Nice		06000	France

References Module

Citations

PubMed Identifier	Type	Citation	Retractions
21963264	Result	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.

ID	Term
D016464	Lysosomal Storage Diseases
D008661	Metabolism, Inborn Errors
D030342	Genetic Diseases, Inborn
D009358	Congenital, Hereditary, and Neonatal Diseases and Abnormalities