Evaluating bone health in patients with nephropathic cystinosis
A European, Multicenter, Prospective Clinical Study to Evaluate Cysteamine Toxicity on Human Osteoclasts. The CYSTEA-BONE Clinical Study.
This study is testing how the standard treatment for nephropathic cystinosis affects bone health in patients with this rare condition.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 50 (estimated) |
| Ages | 2 Years and up |
| Sex | All |
| Sponsor | Hospices Civils de Lyon Academic / other |
| Locations | 13 sites (Besançon and 12 other locations) |
| Trial ID | NCT03919981 on ClinicalTrials.gov |
What this trial studies
This observational study focuses on nephropathic cystinosis, a rare inherited disorder that affects lysosomal function due to cystine transport deficiency. It aims to assess the effects of cysteamine, the standard treatment, on bone health by evaluating osteoclastic differentiation and resorption activity in patients with this condition. The study will also describe the clinical bone status of participants based on their genetic background. Blood samples will be collected to support these evaluations.
Who should consider this trial
Good fit: Ideal candidates include males and females over the age of 2 with a confirmed diagnosis of nephropathic cystinosis who are currently receiving oral cysteamine.
Not a fit: Patients who are unable or unwilling to comply with the study protocol may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to improved understanding and management of bone health in patients with nephropathic cystinosis.
How similar studies have performed: While the specific focus on bone health in nephropathic cystinosis is novel, related studies on cysteamine's effects in other contexts have shown varying degrees of success.
Eligibility criteria
Show full inclusion / exclusion 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.
Where this trial is running
Besançon and 12 other locations
- CHU de Besançon — Besançon, France (Not_yet_recruiting)
- CHU Bordeaux - Hôpital Pellegrin tripode — Bordeaux, France (Recruiting)
- Hôpital Femme Mère Enfant — Bron, France (Recruiting)
- Hôpital Jeanne de Flandre — Lille, France (Recruiting)
- Hopital Edouard Herriot — Lyon, France (Recruiting)
- AP-HM - Timone Enfants — Marseille, France (Not_yet_recruiting)
- CHU Paris - Hôpital Robert Debré — Paris, France (Recruiting)
- CHU Paris - Hôpital Necker-Enfants Malades — Paris, France (Recruiting)
- Hôpital des Enfants — Toulouse, France (Not_yet_recruiting)
- CHRU Nancy - Hôpital Brabois Enfants — Vandœuvre-lès-Nancy, France (Recruiting)
- Klinik für Pädiatrische Nieren-, Leber- und Stoffwechselerkrankungen — Hanover, Germany (Not_yet_recruiting)
- IRCCS Ospedale Pediatrico Bambino Gesù — Roma, Italy (Not_yet_recruiting)
- Hacettepe University Faculty of Medicine — Ankara, Turkey (Türkiye) (Not_yet_recruiting)
Study contacts
- Study coordinator: Justine BACCHETTA, MD PhD
- Email: justine.bacchetta@chu-lyon.fr
- Phone: 04 27 85 61 30
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.