CYSTEA-BONE Clinical Study

Recruiting

• Conditions: Nephropathic Cystinosis
• Interventions: Other: Blood sampling

• Registration Number: NCT03919981
• Lead Sponsor: Hospices Civils de Lyon

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.

Detailed Description

Not available

Study Timeline

• Study First Submitted: 2019-02-21
• Study Start: 2019-04-05
• Study First Submitted QC: 2019-04-17
• Study First Posted: 2019-04-18
• Status Verified: 2024-02
• Last Update Submitted: 2025-02-27
• Last Update Posted: 2025-03-03
• Primary Completion: 2026-10-05
• Study Completion: 2026-10-05

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 50

Inclusion Criteria

• 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.

Exclusion Criteria

• Subjects who, in the opinion of the Investigator, are not able or willing to comply with the protocol.

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
nephropathic cystinosis patients receiving cysteamine	Blood sampling	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.

Primary Outcome Measures

Name	Time	Method
Number of positive Tartrate-resistant acid phosphatase (TRAP) cells	1 day	Number of positive TRAP cells will be assessed at the end of osteoclast differentiation from circulating monocytes

Trial Locations

Locations (13)

CHU de Besançon; 🇫🇷 Besançon, France

CHU Bordeaux - Hôpital Pellegrin tripode; 🇫🇷 Bordeaux, France

Hôpital Femme Mère Enfant; 🇫🇷 Bron, France

Hôpital Jeanne de Flandre; 🇫🇷 Lille, France

Hopital Edouard Herriot; 🇫🇷 Lyon, France

AP-HM - Timone Enfants; 🇫🇷 Marseille, France

CHU Paris - Hôpital Robert Debré; 🇫🇷 Paris, France

CHU Paris - Hôpital Necker-Enfants Malades; 🇫🇷 Paris, France

Hôpital des Enfants; 🇫🇷 Toulouse, France

CHRU Nancy - Hôpital Brabois Enfants; 🇫🇷 Vandœuvre-lès-Nancy, France

Klinik für Pädiatrische Nieren-, Leber- und Stoffwechselerkrankungen; 🇩🇪 Hannover, Germany

IRCCS Ospedale Pediatrico Bambino Gesù; 🇮🇹 Roma, Italy

Hacettepe University Faculty of Medicine; 🇹🇷 Ankara, Turkey