CYSTEA-BONE Clinical Study

Nephropathic Cystinosis Clinical Trial

— CYSTEA-BONE  

Official title:

A European, Multicenter, Prospective Clinical Study to Evaluate Cysteamine Toxicity on Human Osteoclasts. The CYSTEA-BONE Clinical Study.

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT03919981
• Other study ID #: 69HCL18_0685
• Secondary ID: 2019-A00166-51
• Status: Recruiting
• Start date: April 5, 2019
• Est. completion date: October 5, 2024

Study information

• Verified date: February 2024
• Source: Hospices Civils de Lyon
• Contact: Justine BACCHETTA, MD PhD
• Phone: 04 27 85 61 30
• Email: justine.bacchetta[@]chu-lyon.fr
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 50
• Est. completion date: October 5, 2024
• Est. primary completion date: October 5, 2024
• Accepts healthy volunteers: No
• Gender: All
• Age group: 2 Years and older

Eligibility

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.

Related Conditions & MeSH terms

• Cystinosis
• Fanconi Syndrome
• Nephropathic Cystinosis

Intervention

Other:
• Blood sampling
25 mL blood sample will be collected on citrate tubes for osteoclastic analysis.

Locations

Country	Name	City	State
France	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 Necker-Enfants Malades	Paris
France	CHU Paris - Hôpital Robert Debré	Paris
France	Hôpital des Enfants	Toulouse
France	CHRU Nancy - Hôpital Brabois Enfants	Vandœuvre-lès-Nancy
Germany	Klinik für Pädiatrische Nieren-, Leber- und Stoffwechselerkrankungen	Hannover
Italy	IRCCS Ospedale Pediatrico Bambino Gesù	Roma
Turkey	Hacettepe University Faculty of Medicine	Ankara

Sponsors (1)

Lead Sponsor	Collaborator
Hospices Civils de Lyon

Countries where clinical trial is conducted

France,  Germany,  Italy,  Turkey, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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