Clinical and Biological Study of Sub-pigmentation During Infantile Cystinosis

March 26, 2026 updated by: Centre Hospitalier Universitaire de Nice
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 Overview

Status

Completed

Conditions

Intervention / Treatment

Study Type

Interventional

Enrollment (Estimated)

30

Phase

  • Not Applicable

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • France
      • Nice, France, 06000
        • department of dermatology, Nice University Hospital

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

1 year to 15 years (Child)

Accepts Healthy Volunteers

No

Description

Inclusion Criteria:

  1. cystinosis
  2. known CTNS mutation

Exclusion Criteria:

  1. patient with corticotherapy treatment
  2. patient with immunosuppressant treatment

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Primary Purpose: Basic Science
  • Allocation: N/A
  • Interventional Model: Single Group Assignment
  • Masking: None (Open Label)

Arms and Interventions

Participant Group / Arm
Intervention / Treatment
Other: 1
cutting hair, skin phenotype description
Other: analysis of pigmentation
cutting hair, skin description, skin biopsy for only 4 patients
Other Names:
  • surgical biopsy
  • skin examination

What is the study measuring?

Primary Outcome Measures

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

Secondary Outcome Measures

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

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Centre Hospitalier Universitaire de Nice

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

April 1, 2008

Primary Completion (Actual)

December 1, 2009

Study Completion (Actual)

December 1, 2009

Study Registration Dates

First Submitted

January 13, 2009

First Submitted That Met QC Criteria

January 13, 2009

First Posted (Estimated)

January 14, 2009

Study Record Updates

Last Update Posted (Actual)

March 31, 2026

Last Update Submitted That Met QC Criteria

March 26, 2026

Last Verified

March 1, 2026

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 07-PP-05

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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