CYSTEA-BONE Clinical Study (CYSTEA-BONE)

February 27, 2024 updated by: Hospices Civils de Lyon

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

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.

Study Overview

Status

Recruiting

Conditions

Intervention / Treatment

Study Type

Observational

Enrollment (Estimated)

50

Contacts and Locations

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

Study Contact

Study Contact Backup

Study Locations

  • France
      • Besançon, France, 25030
        • Not yet recruiting
        • CHU de Besancon
        • Contact:
        • Principal Investigator:
          • Francois NOBILI, MD,PhD
      • Bordeaux, France, 33000
        • Recruiting
        • CHU Bordeaux - Hôpital Pellegrin Tripode
        • Contact:
        • Principal Investigator:
          • Jérome HARAMBAT, PU PH
      • Bron, France, 69677
        • Recruiting
        • Hôpital Femme Mère Enfant
        • Contact:
        • Contact:
        • Principal Investigator:
          • Justine BACCHETTA, PU PH
      • Lille, France, 59037
        • Recruiting
        • Hopital Jeanne de Flandre
        • Contact:
        • Principal Investigator:
          • Robert NOVO, MD PHD
      • Lyon, France, 69437
        • Recruiting
        • Hôpital Edouard Herriot
        • Contact:
        • Contact:
        • Principal Investigator:
          • Sandrine LEMOINE, PhD
        • Sub-Investigator:
          • Laurence DUBOURG, PhD
      • Marseille, France, 13385
        • Not yet recruiting
        • AP-HM - Timone Enfants
        • Contact:
        • Principal Investigator:
          • Caroline ROUSSET-ROUVIERE, MD PHD
      • Paris, France, 75019
        • Recruiting
        • CHU Paris - Hôpital Robert Debré
        • Contact:
        • Principal Investigator:
          • Georges DESCHENES, PU PH
      • Paris, France, 75743
        • Recruiting
        • CHU Paris - Hôpital Necker-Enfants Malades
        • Contact:
        • Contact:
        • Principal Investigator:
          • Aude SERVAIS, PU PH
        • Sub-Investigator:
          • Olivia BOYER, MD PHD
      • Toulouse, France, 31059
        • Not yet recruiting
        • Hopital des Enfants
        • Contact:
        • Principal Investigator:
          • Stéphane DECRAMER, PU, PH
      • Vandœuvre-lès-Nancy, France, 54500
        • Recruiting
        • CHRU Nancy - Hôpital Brabois Enfants
        • Contact:
        • Principal Investigator:
          • Mario PONGAS, MD PHD
  • Germany
      • Hannover, Germany, 30625
        • Not yet recruiting
        • Klinik für Pädiatrische Nieren-, Leber- und Stoffwechselerkrankungen
        • Contact:
        • Principal Investigator:
          • Dieter HAFFNER, PU PH
  • Italy
      • Roma, Italy, 00146
        • Not yet recruiting
        • IRCCS Ospedale Pediatrico Bambino Gesu
        • Contact:
        • Contact:
        • Principal Investigator:
          • Marcella GRECO, MD PHD
        • Sub-Investigator:
          • Francesco EMMA, PU PH
  • Turkey
      • Ankara, Turkey, 06100
        • Not yet recruiting
        • Hacettepe University Faculty of Medicine
        • Contact:
        • Principal Investigator:
          • Rezan TOPALOGLU, PU PH

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

2 years and older (Child, Adult, Older Adult)

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

Study Population

Patients with nephropathic cystinosis (NC)

Description

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 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

  • Observational Models: Cohort
  • Time Perspectives: Prospective

Cohorts and Interventions

Group / Cohort
Intervention / Treatment
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.
Other: Blood sampling
25 mL blood sample will be collected on citrate tubes for osteoclastic analysis.

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Number of positive Tartrate-resistant acid phosphatase (TRAP) cells
Time Frame: 1 day
Number of positive TRAP cells will be assessed at the end of osteoclast differentiation from circulating monocytes
1 day

Collaborators and Investigators

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

Sponsor

Hospices Civils de Lyon

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 (Actual)

April 5, 2019

Primary Completion (Estimated)

October 5, 2024

Study Completion (Estimated)

October 5, 2024

Study Registration Dates

First Submitted

February 21, 2019

First Submitted That Met QC Criteria

April 17, 2019

First Posted (Actual)

April 18, 2019

Study Record Updates

Last Update Posted (Estimated)

February 28, 2024

Last Update Submitted That Met QC Criteria

February 27, 2024

Last Verified

February 1, 2024

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 69HCL18_0685
  • 2019-A00166-51 (Other Identifier: ID-RCB)

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

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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