An observational study in Primary Hyperoxaluria, sponsored by University Hospital, Strasbourg, France. Status unknown at 1 site in France. Open to participants aged 1 Year and older. Per ClinicalTrials.gov, last updated 2021-11-04.
Sponsored by University Hospital, Strasbourg, France · Observational
985 / 5000 Résultats de traduction Primary hyperoxaluria is a rare autosomal recessive disease with an estimated prevalence of around 1 to 3 cases per million population. The most frequent attacks are urolithiasis disease and nephrocalcinosis, ultimately leading to end-stage chronic renal failure. The phenotype of this pathology is very heterogeneous, making the diagnosis difficult.
There is currently a significant diagnostic delay. This is potentially due to atypical forms, or to insufficient clinicians' awareness of its research.
However, the early diagnosis of this pathology is essential, since end-stage chronic renal failure can be avoided or at least delayed with early and appropriate management.
The objective of the study is to describe the phenotype of currently diagnosed primary hyperoxaluria, in order to identify the classic presentations but also the characteristics of atypical presentations
42 studies on the registry are indexed under Hyperoxaluria, Primary; 11 are open to participants now.
This study's planned enrollment of 186 is below the median of 730 across 13 observational studies indexed under Hyperoxaluria, Primary.
Browse Hyperoxaluria, Primary studies →University Hospital, Strasbourg, France is the lead sponsor of 999 studies on the registry; 358 are open to participants now.
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Major or minor subject having undergone genetic research for primary hyperoxaluria between 01/01/2015 and 31/12/2019
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Exclusion criteria:
Retropsective study of classic presentations of atypical presentations of primitive hyperoxaluria and its characteristics of atypical presentations
Time frame: Files analysed retrospectively from January 01, 2015 to December 31, 2019 will be examined]
Started Jan 2021 (actual). Primary completion is estimated for Jan 2023, 24 months after the start.
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This study is status unknown, as verified in Oct 2021. You cannot join it, but the record below documents what was studied.
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University Hospital, Strasbourg, France →