CYSTEA-BONE Clinical Study (CYSTEA-BONE)

February 27, 2025 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

Status

Indicates the current recruitment status or the expanded access status.
Recruiting

Conditions

Conditions

The disease, disorder, syndrome, illness, or injury that is being studied. On ClinicalTrials.gov, conditions may also include other health-related issues, such as lifespan, quality of life, and health risks.

Intervention / Treatment

Intervention / Treatment

A process or action that is the focus of a clinical study. Interventions include drugs, medical devices, procedures, vaccines, and other products that are either investigational or already available. Interventions can also include noninvasive approaches, such as education or modifying diet and exercise.

Study Type

Study Type

Describes the nature of a clinical study. Study types include interventional studies (also called clinical trials), observational studies (including patient registries), and expanded access.
Observational

Enrollment (Estimated)

Enrollment

The number of participants in a clinical study. The "anticipated" enrollment is the target number of participants that the researchers need for the study.
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

The name and contact information for the person who can answer enrollment questions for a clinical study. Each location where the study is being conducted may also have a specific contact, who may be better able to answer those questions.

Study Contact Backup

Study Locations

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

Eligibility Criteria

The key requirements that people who want to participate in a clinical study must meet or the characteristics they must have. Eligibility criteria consist of both inclusion criteria (which are required for a person to participate in the study) and exclusion criteria (which prevent a person from participating). Types of eligibility criteria include whether a study accepts healthy volunteers, has age or age group requirements, or is limited by sex.

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

Group / Cohort

A group or subgroup of participants in an observational study that is assessed for biomedical or health outcomes.
Intervention / Treatment

Intervention / Treatment

A process or action that is the focus of a clinical study. Interventions include drugs, medical devices, procedures, vaccines, and other products that are either investigational or already available. Interventions can also include noninvasive approaches, such as education or modifying diet and exercise.
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

Primary Outcome Measures

In a clinical study's protocol, the planned outcome measure that is the most important for evaluating the effect of an intervention/treatment. Most clinical studies have one primary outcome measure, but some have more than one.
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

Sponsor

The organization or person who initiates the study and who has authority and control over the study.
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)

Study Start

The actual date on which the first participant was enrolled in a clinical study. The "anticipated" study start date is the date that the researchers think will be the study start date.
April 5, 2019

Primary Completion (Estimated)

Primary Completion

The date on which the last participant in a clinical study was examined or received an intervention to collect final data for the primary outcome measure. Whether the clinical study ended according to the protocol or was terminated does not affect this date. For clinical studies with more than one primary outcome measure with different completion dates, this term refers to the date on which data collection is completed for all the primary outcome measures. The "anticipated" primary completion date is the date that the researchers think will be the primary completion date for the study.
October 5, 2026

Study Completion (Estimated)

Study Completion

The date on which the last participant in a clinical study was examined or received an intervention/treatment to collect final data for the primary outcome measures, secondary outcome measures, and adverse events (that is, the last participant's last visit). The "anticipated" study completion date is the date that the researchers think will be the study completion date.
October 5, 2026

Study Registration Dates

First Submitted

First Submitted

The date on which the study sponsor or investigator first submitted a study record to ClinicalTrials.gov. There is typically a delay of a few days between the first submitted date and the record's availability on ClinicalTrials.gov (the first posted date).
February 21, 2019

First Submitted That Met QC Criteria

First Submitted That Met QC Criteria

The date on which the study sponsor or investigator first submits a study record that is consistent with National Library of Medicine (NLM) quality control (QC) review criteria. The sponsor or investigator may need to revise and submit a study record one or more times before NLM's QC review criteria are met. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
April 17, 2019

First Posted (Actual)

First Posted

The date on which the study record was first available on ClinicalTrials.gov after National Library of Medicine (NLM) quality control (QC) review has concluded. There is typically a delay of a few days between the date the study sponsor or investigator submitted the study record and the first posted date.
April 18, 2019

Study Record Updates

Last Update Posted (Actual)

Last Update Posted

The most recent date on which changes to a study record were made available on ClinicalTrials.gov. There may be a delay between when the changes were submitted to ClinicalTrials.gov by the study's sponsor or investigator (the last update submitted date) and the last update posted date.
March 25, 2025

Last Update Submitted That Met QC Criteria

Last Update Submitted That Met QC Criteria

The most recent date on which the study sponsor or investigator submitted changes to a study record that are consistent with National Library of Medicine (NLM) quality control (QC) review criteria. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
February 27, 2025

Last Verified

Last Verified

The most recent date on which the study sponsor or investigator confirmed the information about a clinical study on ClinicalTrials.gov as accurate and current. If a study with a recruitment status of recruiting; not yet recruiting; or active, not recruiting has not been confirmed within the past 2 years, the study's recruitment status is shown as unknown.
February 1, 2024

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

Other Study ID Numbers

Identifiers or ID numbers other than the NCT number that are assigned to a clinical study by the study's sponsor, funders, or others. These numbers may include unique identifiers from other trial registries and National Institutes of Health grant numbers.
  • 69HCL18_0685
  • 2019-A00166-51 (Other Identifier: ID-RCB)

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

product manufactured in and exported from the U.S.

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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