European Cystinosis Cohort

NCT05901077 | Recruiting

• 1 other identifier: C15-49
• Study Type: observational
• Target: 400
• Locations: 1 country
• Sites: 1

Brief 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.

Conditions

Cystinosis

Keywords

Quality of life; Effects of treatments; European Study

Outcome Measures

Primary Outcomes (2)

• Change in the number of renal replacement therapy (RRT)

  Through study completion, at 1 year, 2 year, 3 year

• Change in Estimated Glomerular Filtration Rate (eGRF)

  Through study completion, at 1 year, 2 year, 3 year

Secondary Outcomes (6)

• Endocrine manifestations

  Through study completion, at 1 year, 2 year, 3 year

• Memory loss, cognitive defect, speech disorder with a Questionnaires

  Through study completion, at 1 year, 2 year, 3 year

• Seizure, stroke, motor defect, extrapyramidal movement disorder reported from patients files

  Through study completion, at 1 year, 2 year, 3 year

• Sensory neuropathy, neuroradiological signs, somnolence, collected by the physicians during the visits

  Through study completion, at 1 year, 2 year, 3 year

• Treatment compliance

  Through study completion, at 1 year, 2 year, 3 year

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

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.

You may qualify if:

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

You may not qualify if:

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

Sponsors & Collaborators

• Institut National de la Santé Et de la Recherche Médicale, France: lead

Study Sites (1)

RaDiCo-ECYSCO

Paris, Île-de-France Region, 75012, France

RECRUITING

MeSH Terms

Conditions

Cystinosis

Condition Hierarchy (Ancestors)

Lysosomal Storage Diseases; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Officials

• Aude Servais, PHD

  INSERM U933

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Aude Servais, PHD

CONTACT

0033 1 44 38 15 15; aude.servais@aphp.fr

Patrick Niaudet, PHD

CONTACT

patrick.niaudet@aphp.fr

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: OTHER
• Sponsor Type: OTHER GOV
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: March 11, 2022
• First Posted: June 13, 2023
• Study Start: April 20, 2017
• Primary Completion: April 1, 2026
• Study Completion: April 1, 2026
• Last Updated: February 12, 2026

Record last verified: 2026-02

Locations

FR (1)