European Cystinosis Cohort

Cystinosis Clinical Trial

— RaDiCo-ECYSCO  

Official title:

European Cystinosis Cohort

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT05901077
• Other study ID #: C15-49
• Status: Recruiting
• Start date: April 20, 2017
• Est. completion date: April 2026

Study information

• Verified date: January 2023
• Source: Institut National de la Santé Et de la Recherche Médicale, France
• Contact: Aude Servais, PHD
• Phone: 0033 1 44 38 15 15
• Email: aude.servais[@]aphp.fr
• Is FDA regulated: No
• Study type: Observational

Clinical 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. 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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 400
• Est. completion date: April 2026
• Est. primary completion date: April 2026
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

Inclusion Criteria:

• Confirmed diagnosis of cystinosis (based on cystine dosage, presence of crystals at eye examination or molecular diagnosis)

• Signed informed consent

Exclusion Criteria:

• Patients not able to give their informed consent. No other criteria (patients with associated disease should be enrolled).

Related Conditions & MeSH terms

• Cystinosis

Locations

Country	Name	City	State
France	RaDiCo-ECYSCO	Paris	Île-de-France

Sponsors (1)

Lead Sponsor	Collaborator
Institut National de la Santé Et de la Recherche Médicale, France

Country where clinical trial is conducted

France, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Change in the number of renal replacement therapy (RRT)		Through study completion, at 1 year, 2 year, 3 year
Primary	Change in Estimated Glomerular Filtration Rate (eGRF)		Through study completion, at 1 year, 2 year, 3 year
Secondary	Endocrine manifestations	Tanner scale for pubertal and genital state,; Age of Menarche,; Presence of hypothyroidism,; Diabetes mellitus and impaired glucose tolerance	Through study completion, at 1 year, 2 year, 3 year
Secondary	Memory loss, cognitive defect, speech disorder with a Questionnaires		Through study completion, at 1 year, 2 year, 3 year
Secondary	Seizure, stroke, motor defect, extrapyramidal movement disorder reported from patients files		Through study completion, at 1 year, 2 year, 3 year
Secondary	Sensory neuropathy, neuroradiological signs, somnolence, collected by the physicians during the visits		Through study completion, at 1 year, 2 year, 3 year
Secondary	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.	Through study completion, at 1 year, 2 year, 3 year
Secondary	Genetics	Description of mutations encountered within population in particular in CTNS gene (57Kb deletion and others mutations)	At inclusion