CystinosisCrystobsNCT02012114
A Cohort of Patients With Cystinosis : Compliance to Cysteamine and Neurological Complications
A study testing Cysteamine bitartrate in people with Cystinosis, run by Hospices Civils de Lyon at 1 site in France.
Trial summary
Preventing late onset of Cystinosis such as neurological complications and improving compliance to cysteamine treatment remain major challenges in management of subjects with cystinosis. Read more about this study
- Who is it for?
- Ages 4 years and olderHealthy volunteers can take part
- Conditions the study is for
- Cystinosis
- What is being tested?
- Cysteamine bitartrate
- Type of treatment
- Pill or oral medicine
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 65 participants
- Where
- 1 siteFrance
- Study dates
- Dec 2011to 14 Dec 2021
- Phase
- Interventional
- 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 4 years and older
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Who may be able to join
- Age and sex matched to study population: Age range: patients aged 4 to 5 years, 6 to 11 years, patients aged 12 to 17 years, adult patients: 18 or above.
- Sex: male or female
- Subjects or their parent or legal guardian must provide written informed consent prior to participation in the study.
- Subjects covered by or having the right to social security.
- Age and sex matched to study population: Age range: patients aged 4 to 5 years, 6 to 11 years, patients aged 12 to 17 years, adult patients: 18 or above.
- Sex: male or female
- Subjects or their parent or legal guardian must provide written informed consent prior to participation in the study.
- Subjects covered by or having the right to social security.
Who cannot join
- Subjects with known hypersensitivity to cysteamine and penicillamine.
- Females who are nursing, planning a pregnancy, known or suspected to be pregnant, or with a positive urinary pregnancy test.
- Subjects who, in the opinion of the Investigator, are not able or willing to comply with the protocol.
- Contra-indication to MRI assessment
- CONTROLS FOR METABONOMIC ASSESSMENTS
- Any uropathology or nephropathology.
Show all 10Show fewer
- CONTROLS FOR NMRS ASSESSMENTS
- Any uropathology or nephropathology.
- Any neurological and/or psychiatric disorder
- Contra-indication to MRI assessment.
Trial locations and contacts
1 site in 1 country.
About this study
Preventing late onset of Cystinosis such as neurological complications and improving compliance to cysteamine treatment remain major challenges in management of subjects with cystinosis.
This study is designed to describe the relationship between compliance of patients with cystinosis treated with cysteamine and treatment efficacy and to understand the pathophysiologic mechanism of neurological disorders. Is cysteamine crossing the blood brain barrier? What is the impact of cystine accumulation in Cerebro Spinal Fluid and Central Nervous System? Our Primary objective is to study the relationship between compliance of patients treated with cysteamine and the WBC cystine level.
Read more
Secondary, the study will assess relationship between compliance to cysteamine and its neurological consequences.
The expected duration of the study is 48 months. The enrolment period is 24 months and the study participation of each subject is 24 months. Eligible participants are male and female (age > 4 years) with confirmed diagnosis of cystinosis and receiving any oral cysteamine treatment: Cystagon or RP103.
The compliance under cysteamine is measured using electronic devices, accountability of study treatment, and information in patients' diary. Specific memory and visuoperceptual tests are performed at the beginning and at the end of patients'participation. Nuclear Magnetic Resonance spectroscopy is used to detect possible sites of cystine accumulation in the CNS and their relationship with compliance to cysteamine treatment. NMRS is also used to establish a relationship with the neuropsychological status of the subject.
To describe absorption, distribution and elimination of cysteamine, and its metabolic pathways, and to determine the concentration effect and dose effect relationship, blood samples are performed at each study visit. A lumbar puncture is also proposed to participants to verify if cysteamine is crossing the blood brain barrier. New tools are used to compare metabonomic networks in patients with cystinosis and their controls.
- Conditions
- Cystinosis
- Being tested
- Cysteamine bitartrate
- Keywords
- Cystinosis, compliance, cysteamine, neurological assessments
- Medical subject headings
- Cystinosis, Patient Compliance
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Cysteamine bitartrateOther
No intervention
| Study group | Role | What they receive |
|---|---|---|
| Cysteamine Bitartrate | No intervention | Single arm study. Subjects receive their current oral form of cysteamine bitartrate treatment : Cystagon® or RP103 Receives: Other: Cysteamine bitartrate |
What is being measured
The primary outcome is the main question the study is designed to answer.
WBC cystine levels
PD measurements will be performed at D1, M1, M3, M6, M9, M12, M15, M18, M21 and M24.
Compliance under cysteamine will be measured from D1 to M24 using electronic devices (date and time of bottle opening are recorded), accountability of study treatment and information of patients' diary. Compliance measurement between two consecutive study visits will be expressed as the proportion of the observed number of opening compared to the expected number and the cumulated dose taken compared to the expected dose.Compliance will be first considered as a dichotomous variable, the compliance being described as satisfactory if greater than 95% during a specific period.Compliance will then be considered as a quantitative variable
Measured: Day1and every three months : Month1, Month3, Month6, Month9, Month12, Month15, Month18, Month21 and Month24.
Secondary outcomes (7)
Presence or absence and accountability of cystine crystals.
Eye examination
Measured: Every 6 month : Month1, Month6, Month12, Month18, Month24
Memory and visuoperceptual tests repeated during the study
Measured: at Day 1 and two years
presence or absence of cystine accumulation, determination of the sites of cystine accumulation in the CNS and relationship with the compliance to cysteamine treatment, relationship with neuropsychological status.
NMRS assessments
Measured: at Month 1 and two years
Concentration of cysteamine in the CSF, associated to a measurement of the CSF pressure
Measured: at any visit
concentration of cysteamine in blood (measured by toxicological HPLC analysis with fluorescence detection)
Measured: at Day1 and every 3 months : month1, month3, month6, month9, month12, month15, month18, month21, month24
discrimination of urine and blood samples,from metabolic spectroscopic data obtained by nuclear magnetic resonance.
Perturbed metabolic network resulting from the intake of cysteamine in comparison to controls,using urine and blood samples available for patients with cystinosis and their controls
Measured: Every 3 months during 6 months and every 6 months to month 6 until two years
Concentration effect, dose effect model.
pharmacokinetic profile and 2 timepoints pharmacodynamics.
Measured: at month 6
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted16 Dec 2013 (estimated)
- Study startDec 2011
- Primary completion5 Dec 2016
- Study completion14 Dec 2021
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for 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
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Other
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 65 participants (actual)
Sponsor and investigators
- Lead sponsor
- Hospices Civils de Lyon
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Cochat Pierre, PUPH, Study director, Hospices Civils de Lyon
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02012114
- Sponsor's protocol ID
- 2010-605
- Acronym
- Crystobs
- Status last verified
- Dec 2025
- First submitted
- 11 Dec 2012
- Last updated
- 19 Dec 2025
- Results posted
- No
- Data monitoring committee
- Yes
Publications
Gaillard S, Roche L, Lemoine S, Deschenes G, Morin D, Vianey-Saban C, Acquaviva-Bourdain C, Ranchin B, Bacchetta J, Kassai B, Nony P, Bodenan E, Laudy V, Rouges C, Zarrabian S, Subtil F, Mercier C, Cochat P, Bertholet-Thomas A. Adherence to cysteamine in nephropathic cystinosis: A unique electronic monitoring experience for a better understanding. A prospective cohort study: CrYSTobs. Pediatr Nephrol. 2021 Mar;36(3):581-589. doi: 10.1007/s00467-020-04722-0. Epub 2020 Sep 9.
PubMed 32901297
Study at a glance
From the registry record, last updated by the sponsor on 19 Dec 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Cohort of Patients With Cystinosis : Compliance to Cysteamine and Neurological Complications
- ClinicalTrials.gov ID
- NCT02012114
- Acronym / sponsor ID
- Crystobs / 2010-605
- Conditions
- Cystinosis
- Keywords
- Cystinosis, compliance, cysteamine, neurological assessments
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 65 participants (actual)
- Lead sponsor
- Hospices Civils de LyonUniversity, hospital or other
- Study start
- Dec 2011
- Primary completion
- 5 Dec 2016 (actual)
- Study completion
- 14 Dec 2021 (actual)
- First posted
- 16 Dec 2013 (estimated)
- 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.
Preventing late onset of Cystinosis such as neurological complications and improving compliance to cysteamine treatment remain major challenges in management of subjects with cystinosis.
This study is designed to describe the relationship between compliance of patients with cystinosis treated with cysteamine and treatment efficacy and to understand the pathophysiologic mechanism of neurological disorders. Is cysteamine crossing the blood brain barrier? What is the impact of cystine accumulation in Cerebro Spinal Fluid and Central Nervous System? Our Primary objective is to study the relationship between compliance of patients treated with cysteamine and the WBC cystine level.
Secondary, the study will assess relationship between compliance to cysteamine and its neurological consequences.
The expected duration of the study is 48 months. The enrolment period is 24 months and the study participation of each subject is 24 months. Eligible participants are male and female (age > 4 years) with confirmed diagnosis of cystinosis and receiving any oral cysteamine treatment: Cystagon or RP103.
The compliance under cysteamine is measured using electronic devices, accountability of study treatment, and information in patients' diary. Specific memory and visuoperceptual tests are performed at the beginning and at the end of patients'participation. Nuclear Magnetic Resonance spectroscopy is used to detect possible sites of cystine accumulation in the CNS and their relationship with compliance to cysteamine treatment. NMRS is also used to establish a relationship with the neuropsychological status of the subject.
To describe absorption, distribution and elimination of cysteamine, and its metabolic pathways, and to determine the concentration effect and dose effect relationship, blood samples are performed at each study visit. A lumbar puncture is also proposed to participants to verify if cysteamine is crossing the blood brain barrier. New tools are used to compare metabonomic networks in patients with cystinosis and their controls.
Study design
- Primary purpose
- Other
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Cysteamine Bitartrate | No intervention | Other: Cysteamine bitartrateSingle arm study. Subjects receive their current oral form of cysteamine bitartrate treatment : Cystagon® or RP103 |
Who may qualify
- Ages
- 4 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (8 listed)
- Age and sex matched to study population: Age range: patients aged 4 to 5 years, 6 to 11 years, patients aged 12 to 17 years, adult patients: 18 or above.
- Sex: male or female
- Subjects or their parent or legal guardian must provide written informed consent prior to participation in the study.
- Subjects covered by or having the right to social security.
- Age and sex matched to study population: Age range: patients aged 4 to 5 years, 6 to 11 years, patients aged 12 to 17 years, adult patients: 18 or above.
Key exclusion criteria (10 listed)
- Subjects with known hypersensitivity to cysteamine and penicillamine.
- Females who are nursing, planning a pregnancy, known or suspected to be pregnant, or with a positive urinary pregnancy test.
- Subjects who, in the opinion of the Investigator, are not able or willing to comply with the protocol.
- Contra-indication to MRI assessment
- CONTROLS FOR METABONOMIC ASSESSMENTS
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 |
|---|---|---|
| Cysteamine bitartrateNo intervention | Other | Cysteamine Bitartrate |
Primary outcome
WBC cystine levels
Time frame: Day1and every three months : Month1, Month3, Month6, Month9, Month12, Month15, Month18, Month21 and Month24.
PD measurements will be performed at D1, M1, M3, M6, M9, M12, M15, M18, M21 and M24. Compliance under cysteamine will be measured from D1 to M24 using electronic devices (date and time of bottle opening are recorded), accountability of study treatment and information of patients' diary. Compliance measurement between two consecutive study visits will be expressed as the proportion of the observed number of opening compared to the expected number and the cumulated dose taken compared to the expected dose.Compliance will be first considered as a dichotomous variable, the compliance being described as satisfactory if greater than 95% during a specific period.Compliance will then be considered as a quantitative variable
7 secondary outcomes
Presence or absence and accountability of cystine crystals.
Time frame: Every 6 month : Month1, Month6, Month12, Month18, Month24
Memory and visuoperceptual tests repeated during the study
Time frame: at Day 1 and two years
presence or absence of cystine accumulation, determination of the sites of cystine accumulation in the CNS and relationship with the compliance to cysteamine treatment, relationship with neuropsychological status.
Time frame: at Month 1 and two years
Concentration of cysteamine in the CSF, associated to a measurement of the CSF pressure
Time frame: at any visit
concentration of cysteamine in blood (measured by toxicological HPLC analysis with fluorescence detection)
Time frame: at Day1 and every 3 months : month1, month3, month6, month9, month12, month15, month18, month21, month24
discrimination of urine and blood samples,from metabolic spectroscopic data obtained by nuclear magnetic resonance.
Time frame: Every 3 months during 6 months and every 6 months to month 6 until two years
Concentration effect, dose effect model.
Time frame: at month 6
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 19 Dec 2025.
- Results publication: PubMed 32901297Gaillard S, Roche L, Lemoine S, Deschenes G, Morin D, Vianey-Saban C, Acquaviva-Bourdain C, Ranchin B, Bacchetta J, Kassai B, Nony P, Bodenan E, Laudy V, Rouges C, Zarrabian S, Subtil F, Mercier C, Cochat P, Bertholet-Thomas A. Adherence to cysteamine in nephropathic cystinosis: A unique electronic monitoring experience for a better understanding. A prospective cohort study: CrYSTobs. Pediatr Nephrol. 2021 Mar;36(3):581-589. doi: 10.1007/s00467-020-04722-0. Epub 2020 Sep 9.
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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.
Cochat Pierre, PUPH study director
Hospices Civils de Lyon
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Cysteamine bitartrate in people with Cystinosis, run by Hospices Civils de Lyon at 1 site in France.
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 8 inclusion and 10 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 19 Dec 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in France. 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?
WBC cystine levels (time frame: Day1and every three months : Month1, Month3, Month6, Month9, Month12, Month15, Month18, Month21 and Month24.). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT02012114, which also lists 1 linked publication.
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 19 Dec 2025.