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Trial record 23 of 32 for:    CYSTEAMINE

CYSTEA-BONE Clinical Study (CYSTEA-BONE)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT03919981
Recruitment Status : Recruiting
First Posted : April 18, 2019
Last Update Posted : May 27, 2019
Sponsor:
Information provided by (Responsible Party):
Hospices Civils de Lyon

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
Nephropathic Cystinosis Other: Blood sampling

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Study Type : Observational
Estimated 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 : April 5, 2019
Estimated Primary Completion Date : October 5, 2020
Estimated Study Completion Date : October 5, 2020


Group/Cohort 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.




Primary Outcome Measures :
  1. 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


Biospecimen Retention:   Samples Without DNA
25 mL blood sample will be collected on citrate tubes for osteoclastic analysis.


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Ages Eligible for Study:   2 Years and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Patients with nephropathic cystinosis (NC)
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.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03919981


Contacts
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Contact: Justine BACCHETTA, MD PhD 04 27 85 61 30 ext +33 justine.bacchetta@chu-lyon.fr
Contact: Segolene GAILLARD 04 27 85 77 28 ext +33 segolene.gaillard@chu-lyon.fr

Locations
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France
CHU Bordeaux - Hôpital Pellegrin tripode Not yet recruiting
Bordeaux, France, 33000
Contact: Jérome HARAMBAT, PU PH    05 56 79 56 79 ext +33    jérome.harambat@chu-bordeaux.fr   
Principal Investigator: Jérome HARAMBAT, PU PH         
Hôpital Femme Mère Enfant Recruiting
Bron, France, 69677
Contact: Justine BACCHETTA, PU PH    04 27 85 61 30 ext +33    justine.bacchetta@chu-lyon.fr   
Contact: Segolene GAILLARD    04 27 85 77 28 ext +33    segolene.gaillard@chu-lyon.fr   
Principal Investigator: Justine BACCHETTA, PU PH         
Hôpital Jeanne de Flandre Not yet recruiting
Lille, France, 59037
Contact: Robert NOVO, MD PHD    03 20 44 46 95 ext +33    robert.novo@chru-lille.fr   
Principal Investigator: Robert NOVO, MD PHD         
AP-HM - Timone Enfants Not yet recruiting
Marseille, France, 13385
Contact: Caroline ROUSSET-ROUVIERE, MD PHD    04 91 38 80 50 ext +33    caroline.rousset-rouviere@ap-hm.fr   
Principal Investigator: Caroline ROUSSET-ROUVIERE, MD PHD         
CHU Paris - Hôpital Robert Debré Not yet recruiting
Paris, France, 75019
Contact: Georges DESCHENES, PU PH    01 40 03 24 67 ext +33    georges.deschenes@aphp.fr   
Principal Investigator: Georges DESCHENES, PU PH         
CHU Paris - Hôpital Necker-Enfants Malades Not yet recruiting
Paris, France, 75743
Contact: Aude SERVAIS, PU PH    01 44 49 54 16 ext +33    aude.servais@aphp.fr   
Contact: Olivia BOYER, MD PHD    01 44 49 54 16 ext +33    olivia.boyer@aphp.fr   
Principal Investigator: Aude SERVAIS, PU PH         
Sub-Investigator: Olivia BOYER, MD PHD         
CHRU Nancy - Hôpital Brabois Enfants Not yet recruiting
Vandœuvre-lès-Nancy, France, 54500
Contact: Mario PONGAS, MD PHD    03 83 15 47 41 ext +33    a.pongas@outlook.com   
Principal Investigator: Mario PONGAS, MD PHD         
Germany
Klinik für Pädiatrische Nieren-, Leber- und Stoffwechselerkrankungen Not yet recruiting
Hannover, Germany, 30625
Contact: Dieter HAFFNER, PU PH    511 532 3220 ext +49    haffner.dieter@mh-hannover.de   
Principal Investigator: Dieter HAFFNER, PU PH         
Italy
IRCCS Ospedale Pediatrico Bambino Gesù Not yet recruiting
Roma, Italy, 00146
Contact: Marcella GRECO, MD PHD    06 68592393 ext +39    marcella.greco@opbg.net   
Contact: Francesco EMMA, PU PH    06 68592393 ext +39    francesco.emma@opbg.net   
Principal Investigator: Marcella GRECO, MD PHD         
Sub-Investigator: Francesco EMMA, PU PH         
Turkey
Hacettepe University Faculty of Medicine Not yet recruiting
Ankara, Turkey, 06100
Contact: Rezan TOPALOGLU, PU PH    312 3051863 ext +90    rezantopaloglu@hacettepe.edu.tr   
Principal Investigator: Rezan TOPALOGLU, PU PH         
Sponsors and Collaborators
Hospices Civils de Lyon

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Responsible Party: Hospices Civils de Lyon
ClinicalTrials.gov Identifier: NCT03919981     History of Changes
Other Study ID Numbers: 69HCL18_0685
2019-A00166-51 ( Other Identifier: ID-RCB )
First Posted: April 18, 2019    Key Record Dates
Last Update Posted: May 27, 2019
Last Verified: May 2019

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Additional relevant MeSH terms:
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Cysteamine
Fanconi Syndrome
Cystinosis
Lysosomal Storage Diseases
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Metabolic Diseases
Renal Tubular Transport, Inborn Errors
Kidney Diseases
Urologic Diseases
Cystine Depleting Agents
Molecular Mechanisms of Pharmacological Action