NCT00822250

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.

Trial Health

87
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
30

participants targeted

Target at below P25 for not_applicable

Timeline
Completed

Started Apr 2008

Geographic Reach
1 country

1 active site

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

April 1, 2008

Completed
10 months until next milestone

First Submitted

Initial submission to the registry

January 13, 2009

Completed
1 day until next milestone

First Posted

Study publicly available on registry

January 14, 2009

Completed
11 months until next milestone

Primary Completion

Last participant's last visit for primary outcome

December 1, 2009

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

December 1, 2009

Completed
Last Updated

March 31, 2026

Status Verified

March 1, 2026

Enrollment Period

1.7 years

First QC Date

January 13, 2009

Last Update Submit

March 26, 2026

Conditions

Cystinosis

Outcome Measures

Primary Outcomes (1)

  • to determine molecular mechanism of the disease

    at time= 0

Secondary Outcomes (1)

  • to research relationship between skin phenotype and cystinosis

    at time =0

Study Arms (1)

1

OTHER

cutting hair, skin phenotype description

Other: analysis of pigmentation

Interventions

analysis of pigmentationOTHER

cutting hair, skin description, skin biopsy for only 4 patients

Also known as: surgical biopsy, skin examination
1

Eligibility Criteria

Age1 Year - 15 Years
Sexall
Healthy VolunteersNo
Age GroupsChild (0-17)

You may qualify if:

  • cystinosis
  • known CTNS mutation

You may not qualify if:

  • patient with corticotherapy treatment
  • patient with immunosuppressant treatment

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

department of dermatology, Nice University Hospital

Nice, 06000, France

Location

Related Publications (1)

  • 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.

    PMID: 21963264RESULT

MeSH Terms

Conditions

Cystinosis

Condition Hierarchy (Ancestors)

Lysosomal Storage DiseasesMetabolism, Inborn ErrorsGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesMetabolic DiseasesNutritional and Metabolic Diseases

Study Design

Study Type
interventional
Phase
not applicable
Allocation
NA
Masking
NONE
Purpose
BASIC SCIENCE
Intervention Model
SINGLE GROUP
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

January 13, 2009

First Posted

January 14, 2009

Study Start

April 1, 2008

Primary Completion

December 1, 2009

Study Completion

December 1, 2009

Last Updated

March 31, 2026

Record last verified: 2026-03

Locations

FR(1)