An observational study in Nephropathic Cystinosis, sponsored by Hospices Civils de Lyon. Recruiting at 13 sites in 4 countries. Open to participants aged 2 Years and older. Per ClinicalTrials.gov, last updated 2025-03-03.
Sponsored by Hospices Civils de Lyon · Observational
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.
Patients with nephropathic cystinosis (NC)
Exclusion Criteria:
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.
Number of positive Tartrate-resistant acid phosphatase (TRAP) cells
Number of positive TRAP cells will be assessed at the end of osteoclast differentiation from circulating monocytes
Time frame: 1 day
Plan to share: No
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Hospices Civils de Lyon