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CYSTEA-BONE Clinical Study

NCT03919981 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 50

Last updated 2025-03-03

No results posted yet for this study

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.

Conditions

  • Nephropathic Cystinosis

Interventions

OTHER

Blood sampling

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

Sponsors & Collaborators

  • Hospices Civils de Lyon

    lead OTHER

Eligibility

Min Age
2 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2019-04-05
Primary Completion
2026-10-05
Completion
2026-10-05

Countries

  • France
  • Germany
  • Italy
  • Turkey (Türkiye)

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT03919981 on ClinicalTrials.gov