CYSTEA-BONE Clinical Study
CYSTEA-BONE
A European, Multicenter, Prospective Clinical Study to Evaluate Cysteamine Toxicity on Human Osteoclasts. The CYSTEA-BONE Clinical Study.
2 other identifiers
observational
50
4 countries
13
Brief Summary
Nephropathic Cystinosis (NC) is an orphan inherited autosomal recessive disease characterised as a generalized lysosomal storage disease due to a deficiency of the cystine lysosomal transport protein, cystinosin. Patients with NC usually receive cysteamine. Bone impairment was recently recognized as a late complication of NC, occurring at adolescence or early adulthood. Even though the exact underlying pathophysiology is unclear, at least six hypotheses are discussed, and mainly cysteamine toxicity and/or direct bone effect of the Cystinosin (CTNS) mutation. Because of the potential dramatic impact on quality of life of this novel complication, research should aim to better understand bone disease in NC. The primary objective of this study is to evaluate the action of cysteamine on osteoclastic differentiation and resorption activity of NC patients, depending on the underlying genotype. The Secondary objective is to describe the clinical bone status of NC patients depending on their underlying genotype.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P25-P50 for all trials
Started Apr 2019
Longer than P75 for all trials
13 active sites
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
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Study Timeline
Key milestones and dates
First Submitted
Initial submission to the registry
February 21, 2019
CompletedStudy Start
First participant enrolled
April 5, 2019
CompletedFirst Posted
Study publicly available on registry
April 18, 2019
CompletedPrimary Completion
Last participant's last visit for primary outcome
October 5, 2026
ExpectedStudy Completion
Last participant's last visit for all outcomes
October 5, 2026
March 3, 2025
February 1, 2024
7.5 years
February 21, 2019
February 27, 2025
Conditions
Outcome Measures
Primary Outcomes (1)
Number of positive Tartrate-resistant acid phosphatase (TRAP) cells
Number of positive TRAP cells will be assessed at the end of osteoclast differentiation from circulating monocytes
1 day
Study Arms (1)
nephropathic cystinosis patients receiving cysteamine
nephropathic cystinosis patients receiving cysteamine. The blood samples of the group will be used to evaluate the action of cysteamine on osteoclastic differentiation and resorption activity of NC patients, depending on the underlying genotype.
Interventions
25 mL blood sample will be collected on citrate tubes for osteoclastic analysis.
Eligibility Criteria
Patients with nephropathic cystinosis (NC)
You may qualify if:
- Male and female subjects with confirmed diagnosis of nephropathic cystinosis (defined by clinical signs, White Blood Cells (WBC) cystine level and/or mutation), currently receiving oral cysteamine.
- Age \> 2 years.
- Subjects and/or their parents/ legal guardian must provide non opposition prior to participation in the study.
You may not qualify if:
- Subjects who, in the opinion of the Investigator, are not able or willing to comply with the protocol.
Contact the study team to confirm eligibility.
Sponsors & Collaborators
Study Sites (13)
CHU de Besançon
Besançon, 25030, France
CHU Bordeaux - Hôpital Pellegrin tripode
Bordeaux, 33000, France
Hôpital Femme Mère Enfant
Bron, 69677, France
Hôpital Jeanne de Flandre
Lille, 59037, France
Hopital Edouard Herriot
Lyon, 69437, France
AP-HM - Timone Enfants
Marseille, 13385, France
CHU Paris - Hôpital Robert Debré
Paris, 75019, France
CHU Paris - Hôpital Necker-Enfants Malades
Paris, 75743, France
Hôpital des Enfants
Toulouse, 31059, France
CHRU Nancy - Hôpital Brabois Enfants
Vandœuvre-lès-Nancy, 54500, France
Klinik für Pädiatrische Nieren-, Leber- und Stoffwechselerkrankungen
Hanover, 30625, Germany
IRCCS Ospedale Pediatrico Bambino Gesù
Roma, 00146, Italy
Hacettepe University Faculty of Medicine
Ankara, 06100, Turkey (Türkiye)
Biospecimen
25 mL blood sample will be collected on citrate tubes for osteoclastic analysis.
MeSH Terms
Conditions
Interventions
Condition Hierarchy (Ancestors)
Intervention Hierarchy (Ancestors)
Central Study Contacts
Study Design
- Study Type
- observational
- Observational Model
- COHORT
- Time Perspective
- PROSPECTIVE
- Sponsor Type
- OTHER
- Responsible Party
- SPONSOR
Study Record Dates
First Submitted
February 21, 2019
First Posted
April 18, 2019
Study Start
April 5, 2019
Primary Completion (Estimated)
October 5, 2026
Study Completion (Estimated)
October 5, 2026
Last Updated
March 3, 2025
Record last verified: 2024-02
Data Sharing
- IPD Sharing
- Will not share