| NCT ID | NCT03919981 |
| Status | Recruiting |
| Phase | — |
| Sponsor | Hospices Civils de Lyon |
| Condition | Nephropathic Cystinosis |
| Study Type | OBSERVATIONAL |
| Enrollment | 50 participants |
| Start Date | 2019-04-05 |
| Primary Completion | 2026-10-05 |
Eligibility & Interventions
Eligibility Fast-Check
Enter your details for a quick preliminary check. This does not replace medical advice.
What to Expect as a Participant
This is an observational study. You will not receive an experimental treatment; researchers will collect data based on your existing condition or standard treatment.
This trial targets 50 participants in total. It began in 2019-04-05 with a primary completion date of 2026-10-05.
⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.
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.
Contact & Investigator
Frequently Asked Questions
Who can join the NCT03919981 clinical trial?
This trial is open to participants of all sexes, aged 2 Years or older, studying Nephropathic Cystinosis. Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.
Is NCT03919981 currently recruiting?
Yes, NCT03919981 is actively recruiting participants. Contact the research team at justine.bacchetta@chu-lyon.fr for enrollment information.
Where is the NCT03919981 trial being conducted?
This trial is being conducted at Besançon, France, Bordeaux, France, Bron, France, Lille, France and 9 additional locations.
Who is sponsoring the NCT03919981 clinical trial?
NCT03919981 is sponsored by Hospices Civils de Lyon. The trial plans to enroll 50 participants.