CYSTEA-BONE Clinical Study

Recruiting now

Conditions studied: Nephropathic Cystinosis

In brief

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.

Key facts

Study ID

NCT03919981

Run by

Hospices Civils de Lyon

People needed

50

Starts

2019-04-05

Expected to finish

2026-10-05

Last updated by the study team

2025-03-03

Who can join

Age: 2 and older. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• 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.

You may not qualify if…

• Subjects who, in the opinion of the Investigator, are not able or willing to comply with the protocol.

Where it is running

• CHU Paris - Hôpital Necker-Enfants Malades — Paris, France (enrolling)
• Hôpital Femme Mère Enfant — Bron, France (enrolling)
• CHRU Nancy - Hôpital Brabois Enfants — Vandœuvre-lès-Nancy, France (enrolling)
• Hôpital Jeanne de Flandre — Lille, France (enrolling)
• Hopital Edouard Herriot — Lyon, France (enrolling)
• CHU Bordeaux - Hôpital Pellegrin tripode — Bordeaux, France (enrolling)
• CHU Paris - Hôpital Robert Debré — Paris, France (enrolling)
• Hacettepe University Faculty of Medicine — Ankara, Turkey (Türkiye)
• AP-HM - Timone Enfants — Marseille, France
• Hôpital des Enfants — Toulouse, France
• Klinik für Pädiatrische Nieren-, Leber- und Stoffwechselerkrankungen — Hanover, Germany
• IRCCS Ospedale Pediatrico Bambino Gesù — Roma, Italy
• CHU de Besançon — Besançon, France

Full record on ClinicalTrials.gov

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