Clinical trial NCT03919981: CYSTEA-BONE Clinical Study
Official title: A European, Multicenter, Prospective Clinical Study to Evaluate Cysteamine Toxicity on Human Osteoclasts. The CYSTEA-BONE Clinical Study.
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Nephropathic Cystinosis
Lead sponsor: Hospices Civils de Lyon
Sponsor class: OTHER
First posted: 2019-04-18
Enrollment: 50
Sex: ALL
Minimum age (years): 2
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Patients with nephropathic cystinosis (NC)

Brief 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.


Eligibility 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.

Primary outcomes:
measure: Number of positive Tartrate-resistant acid phosphatase (TRAP) cells
timeFrame: 1 day
Secondary outcomes:
Other outcomes:
Locations:
city: Besançon
country: France
facility: CHU de Besançon
city: Bordeaux
country: France
facility: CHU Bordeaux - Hôpital Pellegrin tripode
city: Bron
country: France
facility: Hôpital Femme Mère Enfant
city: Lille
country: France
facility: Hôpital Jeanne de Flandre
city: Lyon
country: France
facility: Hopital Edouard Herriot
city: Marseille
country: France
facility: AP-HM - Timone Enfants
city: Paris
country: France
facility: CHU Paris - Hôpital Robert Debré
city: Paris
country: France
facility: CHU Paris - Hôpital Necker-Enfants Malades
city: Toulouse
country: France
facility: Hôpital des Enfants
city: Vandœuvre-lès-Nancy
country: France
facility: CHRU Nancy - Hôpital Brabois Enfants
city: Hannover
country: Germany
facility: Klinik für Pädiatrische Nieren-, Leber- und Stoffwechselerkrankungen
city: Roma
country: Italy
facility: IRCCS Ospedale Pediatrico Bambino Gesù
city: Ankara
country: Turkey
facility: Hacettepe University Faculty of Medicine
Study officials:
References: