Metabolic nephropathies & stone disorders

The outcome of nephropathic cystinosis has been mostly evaluated in patients treated in the reference centers (Emma et al. KI 2022, RaDiCo cohort), while many patients, especially adults, are spread over numerous nephrology units, frequently following a single patient and having little experience in the disease. Thus, ‘real life’ information on the outcome of cystinosis patients is missing and forms a subject of this project. Moreover, these patients are frequently not getting access to clinical trials as their physicians are not included in the network of cystinosis reference centers approached by the pharmaceutical companies.

Adult cystinosis patients are spread over numerous adults units, frequently lacking multi-disciplinary teams, and having limited clinical experience in the disease. Furthermore current long-term outcome data are missing.

We hypothesize that the clinical management may be heterogeneous and decreases upon transition from pediatric to adult units.

We aim at

1. Identifying cystinosis patients followed in pediatric and adult ERKNet centers

2. Collecting natural history information including the genetic diagnosis, renal outcome, comorbidities, the adequacy and type of cysteamine treatment, leukocyte cystine level, and cause of mortality

3. Comparing treatment adequacy and clinical outcomes of cystinosis patients treated in Pediatric and Adult ERKNet centres

4. Assessing clinical trial readiness of centers following cystinosis patients

5. Promoting adequate transition and follow-up of cystinosis patients in Europe

Pediatric and Adult cystinosis patients followed in ERKNet centres

Data Sources: ERKReg and surveys

Data Elements:
primary renal diagnosis, age at diagnosis, country of residence, diagnostic information including genetic diagnosis, treatment modality (native kidneys, dialysis or transplantation), spcific cysteamine treatment, kidney function, WBC cystine levels, growth, serum potassium, serum bicarbonate.

Subsequent survey for additional information concerning extra-renal comorbidities, cause of mortality, access and monitoring of treatment

Observational cohort study analyzing clinical outcome of cystinosis patients followed in adult and pediatric centers.

In the future, we would like to suggest establishing a new cystinosis sub-registry within the ERKReg for further in-depth analysis of cystinosis patients, both treated in the ERKNet centres and outside.
This sub-registry would extend the existing cystinois cohort collected by RaDiCo, as centes outside of EU are not allowed to enter data in RaDiCo.