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Evaluation of plasma chitotriosidase, plasma cytokines and cystine crystal scoring in skin and hair for the non-invasive therapeutic monitoring of nephropathic cystinosis.

Evaluation of plasma chitotriosidase, plasma cytokines and cystine crystal scoring in skin and hair for the non-invasive therapeutic monitoring of nephropathic cystinosis. - Non-invasive markers for monitoring of nephropathic cystinosis.

Status
Unknown
Phases
Unknown
Study type
Observational
Source
NL-OMON
Registry ID
NL-OMON42771
Enrollment
24
Registered
2016-03-23
Start date
Unknown
Completion date
Unknown
Last updated
2024-04-23

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Cystinosis

Interventions

None listed

Sponsors

University Hospitals Leuven, Belgium
Lead Sponsor

Eligibility

Age
2 Years to 99 Years

Inclusion criteria

Inclusion criteria: - confirmed diagnosis of nephropathic cystinosis - age > 6 months - patients at diagnosis - patients under cysteamine treatment - patients with renal Fanconi syndrome - patients after kidney transplantation - women of childbearing age can be included

Exclusion criteria

Exclusion criteria: - age

Design outcomes

Primary

MeasureTime frame
A. cut-off values of plasma Chitotriosidase activity representing good therapeutic control of cystinosis (WBC cystine levels 2 nmol/mg protein) C. Development of strategy for skin & cystine crystals scoring to correlate with good and bad therapeutic control of cystinosis.—

Secondary

MeasureTime frame
A. Correlation between WBC cystine levels and markers of macrophage activation in cystinosis B. Correlation between WBC cystine levels and skin & hair cystine crystals C. Correlation between markers of macrophage activation and skin & cystine crystals D. Correlation between alternative markers mentioned above and eGFR in patients without renal graft.—

Countries

Netherlands

Outcome results

None listed

Source: NL-OMON (via WHO ICTRP)