European Cystinosis Cohort 2

NCT07680751 | Not Yet Recruiting

• 2 other identifiers: C24-462025-A02109-40
• Study Type: observational
• Target: 250
• Locations: 1 country
• Sites: 1

Brief Summary

This European observational cohort follows patients with cystinosis, a rare lysosomal storage disease caused by CTNS mutations leading to cystine accumulation and multisystem involvement. It aims to describe the long-term clinical course under current treatments, focusing on renal and extra-renal complications, survival, and quality of life. It also evaluates treatment effects and explores biomarkers, including inflammatory markers, with biobanking for future research.

Conditions

Cystinosis

Keywords

Cystinosis; Rare disease cohort; CTNS mutation; European Study; Cysteamine treatment

Outcome Measures

Primary Outcomes (1)

• Long-term clinical disease progression in cystinosis

  Evaluation of long-term disease progression in patients with cystinosis, including renal function (eGFR, renal replacement therapy), ocular involvement, endocrine manifestations, neurological abnormalities, muscular and gastrointestinal complications, and survival. Additional data include current treatments and CTNS genotyping.

  Through study completion, an average of 6 years

Secondary Outcomes (10)

• Quality of life in patients with cystinosis (adults)

  Through study completion, an average of 6 years

• Quality of life in patients with cystinosis (children)

  Through study completion, an average of 6 years

• Treatment adherence in patients with cystinosis

  Through study completion, an average of 6 years

• Renal function assessment in patients with cystinosis

  Through study completion, an average of 6 years

• Ocular manifestations assessment in patients with cystinosis

  Through study completion, an average of 6 years

Study Arms (1)

European cystinosis observational cohort

Patients included in this cohort have a confirmed diagnosis of cystinosis (CTNS-related lysosomal storage disease) and are followed in European expert reference centers. This is a non-interventional observational cohort study conducted under routine clinical care conditions. No study-specific treatment or intervention is assigned; patients receive standard of care as determined by their treating physicians. Longitudinal data are collected prospectively and retrospectively through standardized electronic case report forms (eCRFs), including clinical, biological, genetic, treatment, and patient-reported outcomes. Data collection covers renal, ocular, endocrine, neurological, muscular, gastrointestinal manifestations, as well as quality of life and biomarker assessments. Patients are followed over time according to routine clinical practice.

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

Patients with a confirmed diagnosis of cystinosis followed in European expert reference centers are included in this multicenter observational cohort. The study population includes both prevalent patients already under follow-up and incident patients identified during the recruitment period. Included patients are European patients receiving standard of care and followed in France, Belgium, Italy, Germany, Spain, and the Netherlands. Both pediatric and adult patients are eligible. No intervention is assigned as part of the study. Approximately 250 patients are expected to be enrolled and followed longitudinally.

You may qualify if:

• Confirmed diagnosis of cystinosis based on leukocyte cystine measurement, presence of corneal cystine crystals, and/or molecular genetic diagnosis
• Signed informed consent obtained from the patient or legal representative

You may not qualify if:

• Patients unable to provide informed consent or without a legal representative when required

Sponsors & Collaborators

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

Study Sites (1)

AP-HP_ Hôpital Charles Foix

Ivry-sur-Seine, Île-de-France Region, 94200, France

Location

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

  AP-HP_Hôpital Necker_Paris

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Aude Servais

CONTACT

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

Patrick Niaudet

CONTACT

pniaudet@gmail.com

Study Design

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

Study Record Dates

• First Submitted: June 22, 2026
• First Posted: July 2, 2026
• Study Start: July 1, 2026
• Primary Completion (Estimated): March 1, 2028
• Study Completion (Estimated): March 1, 2028
• Last Updated: July 2, 2026

Record last verified: 2026-06

Locations

FR (1)