Cystine Lithiasis in the Netherlands; Clinical and genetic aspects
Withdrawn
- Conditions
- cystinesteenlijdencystinuria1003836010046708
- Registration Number
- NL-OMON36519
- Lead Sponsor
- eids Universitair Medisch Centrum
- Brief Summary
Not available
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- Withdrawn
- Sex
- Not specified
- Target Recruitment
- 100
Inclusion Criteria
- Established diagnosis of cystinuria on the basis of amino acid chromatography with or without a history of nephrolithiasis;- Minors with an established diagnosis of cystinuria on the basis of amino acid chromatography will also be included after parent approval is obtained.
Exclusion Criteria
Geen
Study & Design
- Study Type
- Observational invasive
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method <p>Clinical endpoints:<br /><br>- Effect of magnitude of 24-hour urinary excretion of cystine on pattern of<br /><br>stone formation ( stone burden, frequency of spontaneous passage of stones,<br /><br>frequency of lithotripsy and/or urological interventions)<br /><br>- Long term effects of the metabolic abnormality on renal function of patients<br /><br>with an established diagnosis of cystinuria<br /><br>- Effectiveness of current management approaches on the above outcomes<br /><br>(endpoint 1)<br /><br><br /><br>Genetic endpoints:<br /><br>- Prevalence of known mutations.<br /><br>- Detection of new mutations.</p><br>
- Secondary Outcome Measures
Name Time Method <p>not applicable</p><br>