CystinosisRaDiCo-ECYSCONCT05901077
European Cystinosis Cohort
An observational study of Cystinosis, run by Institut National de la Santé Et de la Recherche Médicale, France at 1 site in France.
Trial summary
Cystinosis is a generalized lysosomal storage disease with a reported incidence of about 1:180,000 live births. There are estimated 110-140 cases in France (approximately 500 in Western Europe). The disease is caused by mutations in the CTNS gene coding for cystinosin, a lysosomal carrier protein. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Cystinosis
- How many people
- 400 participants
- Where
- 1 siteFrance
- Study dates
- 20 Apr 2017to Apr 2027
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
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 Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Prevalent subjects will be selected in european country such as France, Belgium, Italy, Germany and Spain via the CEMARA registry. French paediatric patients suspected with cystinosis are first sent to a nephrologist who will redirect them to centres of reference/competence where the confirmation of the diagnosis will be performed either by cysteine dosage, presence of intra-ocular cysteine crystals detection and combined, when possible, by genetic analysis. For french patients who declared the disease once adult, the diagnosis is mainly made by ophthalmologist who identify the presence of ocular cysteine crystals.
Who may be able to join
- Confirmed diagnosis of cystinosis (based on cystine dosage, presence of crystals at eye examination or molecular diagnosis)
- Signed informed consent
Who cannot join
- Patients not able to give their informed consent. No other criteria (patients with associated disease should be enrolled).
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Patrick Niaudet, PHD contact
France1 site, 1 recruiting
- Recruiting
RaDiCo-ECYSCO
Paris, Île-de-France Region, 75012
Sonia Gueguen, PHD, 0033 6 88 34 54 08, sonia.gueguen@radico.fr
Aude Servais, PHD
About this study
Cystinosis is a generalized lysosomal storage disease with a reported incidence of about 1:180,000 live births. There are estimated 110-140 cases in France (approximately 500 in Western Europe). The disease is caused by mutations in the CTNS gene coding for cystinosin, a lysosomal carrier protein. The lysosomal cystine accumulation leads to cellular dysfunction in many organs. The first symptoms start at about 6 months of age. In the absence of specific therapy, end stage renal disease occurs between 6 and 12 years of age. Survival beyond this age is associated with the development of extra-renal complications.
Renal transplantation and the availability of cystine-depleting medical therapy, cysteamine (EU/1/97/039/001, EU/1/97/039/003), have radically altered the natural history of cystinosis. Cystinosis is a good example of a "paediatric" disease where patients now survive into adolescence and adulthood. These individuals have complex, multisystem problems that require on-going care.
Read more
Despite some progress in recent years there are still significant limitations in the knowledge of diagnostic and therapeutic procedures. A first European registry was launched in 2011, using the CEMARA application developed by the Banque Nationale de Données Maladies Rares (BNDMR, CNIL authorisation number: 1187326), allowing the collection of data from France, Belgium and Italy. The objective of the current study is to translate this database into a cohort study that will allow and facilitate the collection of a wider range of data including clinical, and personal data such as quality of life data, from an increased number of European countries, improve the monitoring, data-management and analysis of the data, offer the possibility for patients to actively participate to and benefit from the study by developing a module in which patients will enter their own data on quality of life with a direct feed-back on the general results.
This project is a unique opportunity for building a consensual European academic cohort not based on company driven, "drug-oriented" objectives.
The cohort will collect clinical details to analyse patient outcomes thus providing audit of patient care \& clinical effectiveness. It will be possible, through the cohort, to indicate where improvements need to be made and ultimately improve care to the highest standards.
- Conditions
- Cystinosis
- Keywords
- Quality of life, Effects of treatments, European Study
- Medical subject headings
- Cystinosis
What is being measured
The primary outcome is the main question the study is designed to answer.
Change in the number of renal replacement therapy (RRT)
Measured: Through study completion, at 1 year, 2 year, 3 year
Change in Estimated Glomerular Filtration Rate (eGRF)
Measured: Through study completion, at 1 year, 2 year, 3 year
Secondary outcomes (6)
Endocrine manifestations
- Tanner scale for pubertal and genital state,
- Age of Menarche,
- Presence of hypothyroidism,
- Diabetes mellitus and impaired glucose tolerance
Measured: Through study completion, at 1 year, 2 year, 3 year
Memory loss, cognitive defect, speech disorder with a Questionnaires
Measured: Through study completion, at 1 year, 2 year, 3 year
Seizure, stroke, motor defect, extrapyramidal movement disorder reported from patients files
Measured: Through study completion, at 1 year, 2 year, 3 year
Sensory neuropathy, neuroradiological signs, somnolence, collected by the physicians during the visits
Measured: Through study completion, at 1 year, 2 year, 3 year
Treatment compliance
Records of adverse events for the long-term safety of treatment (side effects of eye drops -presence of redness, blurring, irritation, itching, pain, or of skeletal, haematological, biochemical, etc. manifestations), treatment duration and interuption and treatment compliance records.
Measured: Through study completion, at 1 year, 2 year, 3 year
Genetics
Description of mutations encountered within population in particular in CTNS gene (57Kb deletion and others mutations)
Measured: At inclusion
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted13 Jun 2023
- Study start20 Apr 2017
- Primary completionApr 2027 (estimated)
- Study completionApr 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for CystinosisStudies of the same condition, open and under way.
- More trials run by Institut National de la Santé Et de la Recherche Médicale, FranceThe 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
- Other
- Enrolment
- 400 participants (estimated)
Sponsor and investigators
- Sponsor type
- Other government
- Responsible party
- Sponsor
- Investigators
- Aude Servais, PHD, Principal investigator, INSERM U933
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05901077
- Sponsor's protocol ID
- C15-49
- Acronym
- RaDiCo-ECYSCO
- Status last verified
- Feb 2026
- First submitted
- 11 Mar 2022
- Last updated
- 7 Jul 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Study at a glance
From the registry record, last updated by the sponsor on 7 Jul 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- European Cystinosis Cohort
- ClinicalTrials.gov ID
- NCT05901077
- Acronym / sponsor ID
- RaDiCo-ECYSCO / C15-49
- Conditions
- Cystinosis
- Keywords
- Quality of life, Effects of treatments, European Study
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 400 participants (estimated)
- Lead sponsor
- Institut National de la Santé Et de la Recherche Médicale, FranceOther government
- Study start
- 20 Apr 2017 (actual)
- Primary completion
- Apr 2027 (estimated)
- Study completion
- Apr 2027 (estimated)
- First posted
- 13 Jun 2023 (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.
Cystinosis is a generalized lysosomal storage disease with a reported incidence of about 1:180,000 live births. There are estimated 110-140 cases in France (approximately 500 in Western Europe). The disease is caused by mutations in the CTNS gene coding for cystinosin, a lysosomal carrier protein. The lysosomal cystine accumulation leads to cellular dysfunction in many organs. The first symptoms start at about 6 months of age. In the absence of specific therapy, end stage renal disease occurs between 6 and 12 years of age. Survival beyond this age is associated with the development of extra-renal complications.
Renal transplantation and the availability of cystine-depleting medical therapy, cysteamine (EU/1/97/039/001, EU/1/97/039/003), have radically altered the natural history of cystinosis. Cystinosis is a good example of a "paediatric" disease where patients now survive into adolescence and adulthood. These individuals have complex, multisystem problems that require on-going care.
Despite some progress in recent years there are still significant limitations in the knowledge of diagnostic and therapeutic procedures. A first European registry was launched in 2011, using the CEMARA application developed by the Banque Nationale de Données Maladies Rares (BNDMR, CNIL authorisation number: 1187326), allowing the collection of data from France, Belgium and Italy. The objective of the current study is to translate this database into a cohort study that will allow and facilitate the collection of a wider range of data including clinical, and personal data such as quality of life data, from an increased number of European countries, improve the monitoring, data-management and analysis of the data, offer the possibility for patients to actively participate to and benefit from the study by developing a module in which patients will enter their own data on quality of life with a direct feed-back on the general results.
This project is a unique opportunity for building a consensual European academic cohort not based on company driven, "drug-oriented" objectives.
The cohort will collect clinical details to analyse patient outcomes thus providing audit of patient care \& clinical effectiveness. It will be possible, through the cohort, to indicate where improvements need to be made and ultimately improve care to the highest standards.
Study design
- Observational model
- Cohort
- Time perspective
- Other
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Prevalent subjects will be selected in european country such as France, Belgium, Italy, Germany and Spain via the CEMARA registry. French paediatric patients suspected with cystinosis are first sent to a nephrologist who will redirect them to centres of reference/competence where the confirmation of the diagnosis will be performed either by cysteine dosage, presence of intra-ocular cysteine crystals detection and combined, when possible, by genetic analysis. For french patients who declared the disease once adult, the diagnosis is mainly made by ophthalmologist who identify the presence of ocular cysteine crystals.
Key inclusion criteria (2 listed)
- Confirmed diagnosis of cystinosis (based on cystine dosage, presence of crystals at eye examination or molecular diagnosis)
- Signed informed consent
Key exclusion criteria (1 listed)
- Patients not able to give their informed consent. No other criteria (patients with associated disease should be enrolled).
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Change in the number of renal replacement therapy (RRT)
Time frame: Through study completion, at 1 year, 2 year, 3 year
Change in Estimated Glomerular Filtration Rate (eGRF)
Time frame: Through study completion, at 1 year, 2 year, 3 year
6 secondary outcomes
Endocrine manifestations
Time frame: Through study completion, at 1 year, 2 year, 3 year
Memory loss, cognitive defect, speech disorder with a Questionnaires
Time frame: Through study completion, at 1 year, 2 year, 3 year
Seizure, stroke, motor defect, extrapyramidal movement disorder reported from patients files
Time frame: Through study completion, at 1 year, 2 year, 3 year
Sensory neuropathy, neuroradiological signs, somnolence, collected by the physicians during the visits
Time frame: Through study completion, at 1 year, 2 year, 3 year
Treatment compliance
Time frame: Through study completion, at 1 year, 2 year, 3 year
Genetics
Time frame: At inclusion
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 7 Jul 2026.
- Individual participant dataSharing planned: Undecided
Related trials for Cystinosis
Not yet recruitingObservational study
European Cystinosis Cohort 2
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RecruitingObservational study
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
Rare Disorders, Undiagnosed Disorders
RecruitingPhase 1/2
DFT383 in Pediatric Participants With Nephropathic Cystinosis
Nephropathic Cystinosis
Not yet recruitingPhase 2
Pilot Study of TTI-0102 in Cystinosis
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RecruitingObservational study
Use of Cysteamine in the Treatment of Cystinosis
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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.
Patrick Niaudet, PHD contact
Aude Servais, PHD principal investigator
INSERM U933
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Cystinosis, run by Institut National de la Santé Et de la Recherche Médicale, France 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 2 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: looking for participants now, as of the sponsor's last update on 7 Jul 2026. 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?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Aude Servais, PHD (0033 1 44 38 15 15, aude.servais@aphp.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Change in the number of renal replacement therapy (RRT) (time frame: Through study completion, at 1 year, 2 year, 3 year). The study lists 2 primary outcomes in all. 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 7 Jul 2026.