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Currently, you can access the following clinical trials being conducted worldwide:

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Clinical trial information and results are updated daily from ClinicalTrials.gov. The latest data update was conducted on 06/15/2021.
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Clinical trial information and results are updated daily from ClinicalTrials.gov. The latest data update was conducted on 06/15/2021.

CYSTEA-BONE Clinical Study

Clinicaltrials.gov identifier NCT03919981

Recruitment Status Recruiting

First Posted April 18, 2019

Last update posted November 14, 2019

Study Description

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.

  • Condition or Disease:Nephropathic Cystinosis
  • Intervention/Treatment: Other: Blood sampling
  • Phase: N/A
Detailed Description

N/A

Study Design
  • Study Type: Observational
  • Estimated Enrollment: 50 participants
  • Observational Model: Cohort
  • Time Perspective: Prospective
  • Official Title: A European, Multicenter, Prospective Clinical Study to Evaluate Cysteamine Toxicity on Human Osteoclasts. The CYSTEA-BONE Clinical Study.
  • Actual Study Start Date: April 2019
  • Estimated Primary Completion Date: October 2020
  • Estimated Study Completion Date: October 2020
Groups and Cohorts
Groups/Cohorts 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.
Outcome Measures
  • Primary Outcome Measures: 1. 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
  • Biospecimen Retention: Samples Without DNA

    25 mL blood sample will be collected on citrate tubes for osteoclastic analysis.

Eligibility Criteria
  • Ages Eligible for Study: 2 Years and older (Child, Adult, Older Adult)
  • Sexes Eligible for Study: All
  • Accepts Healthy Volunteers: No
  • Sampling Method: Non-Probability Sample
  • Study Population: Patients with nephropathic cystinosis (NC)
Criteria

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.

Contacts and Locations
Contacts

Contact: Justine BACCHETTA, MD PhD 04 27 85 61 30 ext +33 justine.bacchetta@chu-lyon.fr

Contact: Segolene GAILLARD 04 27 85 77 28 ext +33 segolene.gaillard@chu-lyon.fr

Locations
Show 13 Study Locations
Sponsors and Collaborators

Hospices Civils de Lyon

More Information
  • Responsible Party: Hospices Civils de Lyon
  • ClinicalTrials.gov Identifier: NCT03919981 History of Changes
  • Other Study ID Numbers: 69HCL18_0685, 2019-A00166-51
  • First Posted: April 18, 2019 Key Record Dates
  • Last Update Posted: November 14, 2019
  • Last Verified: November 2019
  • Studies a U.S. FDA-regulated Drug Product: No
  • Studies a U.S. FDA-regulated Device Product: No
  • Additional relevant MeSH terms: Fanconi Syndrome Cystinosis