CYSTEA-BONE Clinical Study
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- The protocol lists: Blood sampling.
- Who it may be relevant to
- Registry conditions: Nephropathic Cystinosis. Basic parameters: from 2 years · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- France, Germany, Italy, Turkey (Türkiye)
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
Unsure about the terms? Read our patient guide →
Official title
A European, Multicenter, Prospective Clinical Study to Evaluate Cysteamine Toxicity on Human Osteoclasts. The CYSTEA-BONE Clinical Study.
Overview
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.
Interventions
- Other Blood sampling
25 mL blood sample will be collected on citrate tubes for osteoclastic analysis.
Primary outcome measures
- Number of positive Tartrate-resistant acid phosphatase (TRAP) cells [Time frame: 1 day]
Eligibility 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.
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Cohort
Study locations
France · 10 centers
- CHU de Besançon — Besançon
- CHU Bordeaux - Hôpital Pellegrin tripode — Bordeaux
- Hôpital Femme Mère Enfant — Bron
- Hôpital Jeanne de Flandre — Lille
- Hopital Edouard Herriot — Lyon
- AP-HM - Timone Enfants — Marseille
- CHU Paris - Hôpital Robert Debré — Paris
- CHU Paris - Hôpital Necker-Enfants Malades — Paris
- … and 2 more centers
Germany · 1 center
- Klinik für Pädiatrische Nieren-, Leber- und Stoffwechselerkrankungen — Hanover
Italy · 1 center
- IRCCS Ospedale Pediatrico Bambino Gesù — Roma
Turkey (Türkiye) · 1 center
- Hacettepe University Faculty of Medicine — Ankara
Identifiers
NCT: NCT03919981 · 69HCL18_0685 · 2019-A00166-51