CYSTEA-BONE Clinical Study

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.

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Key information

Conditions

Nephropathic Cystinosis Congenital, Hereditary, and Neonatal Diseases and Abnormalities Cystinosis Genetic Diseases, Inborn Lysosomal Storage Diseases Metabolic Diseases Metabolism, Inborn Errors Nutritional and Metabolic Diseases

Age range

2 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

CHU de Besançon, Besançon, France

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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.

Treatment and study plan

Blood sampling

Other

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

Primary outcomes

Number of positive Tartrate-resistant acid phosphatase (TRAP) cells

Time frame: 1 day

Number of positive TRAP cells will be assessed at the end of osteoclast differentiation from circulating monocytes

Study contacts

Contact information is provided by the study sponsor or research team.

Justine BACCHETTA, MD PhD

CONTACT

[email protected]

04 27 85 61 30 ext. +33

Segolene GAILLARD

CONTACT

[email protected]

04 27 85 77 28 ext. +33

Sponsors and collaborators

Lead sponsor

Hospices Civils de Lyon

Other

Registry information

Official study title

A European, Multicenter, Prospective Clinical Study to Evaluate Cysteamine Toxicity on Human Osteoclasts. The CYSTEA-BONE Clinical Study.

Acronym: CYSTEA-BONE

Important dates

Study start: 2019
Primary completion: 2026
Study completion: 2026
First posted: Apr 18, 2019
Registry last updated: Mar 3, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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