CYSTEA-BONE Clinical Study

Sponsor

Hospices Civils de Lyon (Other)

Overall Status

Recruiting

CT.gov ID

NCT03919981

Collaborator

(none)

Enrollment

Locations

Anticipated Duration (Months)

3.8

Patients Per Site

0.1

Patients Per Site Per Month

Study Details

Study Description

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.

Condition or Disease	Intervention/Treatment	Phase
Nephropathic Cystinosis	Other: Blood sampling

Study Design

Study Type:

Observational

Anticipated Enrollment :

50 participants

Observational Model:

Cohort

Time Perspective:

Prospective

Official Title:

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

Actual Study Start Date :

Apr 5, 2019

Anticipated Primary Completion Date :

Oct 5, 2022

Anticipated Study Completion Date :

Oct 5, 2022

Arms and Interventions

Arm	Intervention/Treatment
nephropathic cystinosis patients receiving cysteamine 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.

Arm

Intervention/Treatment

nephropathic cystinosis patients receiving cysteamine

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.

Outcome Measures

Primary Outcome Measures

Number of positive Tartrate-resistant acid phosphatase (TRAP) cells [1 day]
Number of positive TRAP cells will be assessed at the end of osteoclast differentiation from circulating monocytes

Eligibility Criteria

Criteria

Ages Eligible for Study:

2 Years and Older

Sexes Eligible for Study:

All

Accepts Healthy Volunteers:

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.

Contacts and Locations

Locations

	Site	City	Country	Postal Code
1	CHU de Besançon	Besançon	France	25030
2	CHU Bordeaux - Hôpital Pellegrin tripode	Bordeaux	France	33000
3	Hôpital Femme Mère Enfant	Bron	France	69677
4	Hôpital Jeanne de Flandre	Lille	France	59037
5	Hopital Edouard Herriot	Lyon	France	69437
6	AP-HM - Timone Enfants	Marseille	France	13385
7	CHU Paris - Hôpital Robert Debré	Paris	France	75019
8	CHU Paris - Hôpital Necker-Enfants Malades	Paris	France	75743
9	Hôpital des Enfants	Toulouse	France	31059
10	CHRU Nancy - Hôpital Brabois Enfants	Vandœuvre-lès-Nancy	France	54500
11	Klinik für Pädiatrische Nieren-, Leber- und Stoffwechselerkrankungen	Hannover	Germany	30625
12	IRCCS Ospedale Pediatrico Bambino Gesù	Roma	Italy	00146
13	Hacettepe University Faculty of Medicine	Ankara	Turkey	06100

Sponsors and Collaborators

Hospices Civils de Lyon

Investigators

None specified.

Study Documents (Full-Text)

None provided.

More Information

Publications

None provided.

Responsible Party:

Hospices Civils de Lyon

ClinicalTrials.gov Identifier:

NCT03919981

Other Study ID Numbers:

69HCL18_0685
2019-A00166-51

First Posted:

Apr 18, 2019

Last Update Posted:

Mar 16, 2022

Last Verified:

Mar 1, 2022

Studies a U.S. FDA-regulated Drug Product:

Studies a U.S. FDA-regulated Device Product:

Additional relevant MeSH terms:

Fanconi Syndrome

Cystinosis

Study Results

No Results Posted as of Mar 16, 2022