Nephropathic CystinosisCYSTEA-BONENCT03919981
CYSTEA-BONE Clinical Study
An observational study of Nephropathic Cystinosis, run by Hospices Civils de Lyon at 13 sites in 4 countries.
Trial 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. Read more about this study
- Who is it for?
- Ages 2 years and older
- Conditions the study is for
- Nephropathic Cystinosis
- What is being tested?
- Blood sampling
- How many people
- 42 participants
- Where
- 13 sitesin 4 countries
- Study dates
- 5 Apr 2019to 12 Dec 2025
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 2 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Patients with nephropathic cystinosis (NC)
Who may be able to join
- 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.
Who cannot join
- Subjects who, in the opinion of the Investigator, are not able or willing to comply with the protocol.
Trial locations and contacts
13 sites in 4 countries.
13 sites in 4 countries
France10 sites
CHU de Besançon
Besançon, 25030
CHU Bordeaux - Hôpital Pellegrin tripode
Bordeaux, 33000
Hôpital Femme Mère Enfant
Bron, 69677
Hôpital Jeanne de Flandre
Lille, 59037
Hopital Edouard Herriot
Lyon, 69437
AP-HM - Timone Enfants
Marseille, 13385
CHU Paris - Hôpital Robert Debré
Paris, 75019
CHU Paris - Hôpital Necker-Enfants Malades
Paris, 75743
Hôpital des Enfants
Toulouse, 31059
CHRU Nancy - Hôpital Brabois Enfants
Vandœuvre-lès-Nancy, 54500
Germany1 site
Klinik für Pädiatrische Nieren-, Leber- und Stoffwechselerkrankungen
Hanover, 30625
Turkey (Türkiye)1 site
Hacettepe University Faculty of Medicine
Ankara, 06100
About this study
Official title: A European, Multicenter, Prospective Clinical Study to Evaluate Cysteamine Toxicity on Human Osteoclasts. The 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.
- Conditions
- Nephropathic Cystinosis
- Being tested
- Blood sampling
- Medical subject headings
- Cystinosis
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Blood samplingOther
25 mL blood sample will be collected on citrate tubes for osteoclastic analysis.
| Study group | Role | What they receive |
|---|---|---|
| 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. Receives: Other: Blood sampling |
What is being measured
The primary outcome is the main question the study is designed to answer.
Number of positive Tartrate-resistant acid phosphatase (TRAP) cells
Number of positive TRAP cells will be assessed at the end of osteoclast differentiation from circulating monocytes
Measured: 1 day
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted18 Apr 2019
- Study start5 Apr 2019
- Primary completion12 Dec 2025
- Study completion12 Dec 2025
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Nephropathic CystinosisStudies of the same condition, open and under way.
- More trials run by Hospices Civils de LyonThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 42 participants (actual)
Sponsor and investigators
- Lead sponsor
- Hospices Civils de Lyon
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03919981
- Sponsor's protocol ID
- 69HCL18_0685
- Other IDs
- 2019-A00166-51
- Acronym
- CYSTEA-BONE
- Status last verified
- Oct 2026
- First submitted
- 21 Feb 2019
- Last updated
- 22 Oct 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 22 Oct 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A European, Multicenter, Prospective Clinical Study to Evaluate Cysteamine Toxicity on Human Osteoclasts. The CYSTEA-BONE Clinical Study.
- ClinicalTrials.gov ID
- NCT03919981
- Acronym / sponsor ID
- CYSTEA-BONE / 69HCL18_0685
- Conditions
- Nephropathic Cystinosis
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 42 participants (actual)
- Lead sponsor
- Hospices Civils de LyonUniversity, hospital or other
- Study start
- 5 Apr 2019 (actual)
- Primary completion
- 12 Dec 2025 (actual)
- Study completion
- 12 Dec 2025 (actual)
- First posted
- 18 Apr 2019 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| nephropathic cystinosis patients receiving cysteamine | – | Other: Blood samplingnephropathic 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. |
Who may qualify
- Ages
- 2 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patients with nephropathic cystinosis (NC)
Key inclusion criteria (3 listed)
- 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.
Key exclusion criteria (1 listed)
- Subjects who, in the opinion of the Investigator, are not able or willing to comply with the protocol.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Blood sampling25 mL blood sample will be collected on citrate tubes for osteoclastic analysis. | Other | nephropathic cystinosis patients receiving cysteamine |
Primary outcome
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
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 22 Oct 2026.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
13 sites in 4 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Nephropathic Cystinosis, run by Hospices Civils de Lyon at 13 sites in 4 countries.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 22 Oct 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 13 sites in France, Germany, Italy, Turkey (Türkiye). Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Number of positive Tartrate-resistant acid phosphatase (TRAP) cells (time frame: 1 day). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 22 Oct 2026.