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Phenotyping of Primary Hyperoxaluria

NCT05107830 · Status: UNKNOWN · Type: OBSERVATIONAL · Enrollment: 186

Last updated 2021-11-04

No results posted yet for this study

Summary

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

Conditions

  • Primary Hyperoxaluria

Sponsors & Collaborators

  • University Hospital, Strasbourg, France

    lead OTHER

Eligibility

Min Age
1 Year
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2021-01-22
Primary Completion
2023-01-31
Completion
2023-01-31

Countries

  • France

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT05107830 on ClinicalTrials.gov