Phenotyping of Primary Hyperoxaluria

• Conditions: Primary Hyperoxaluria

• Registration Number: NCT05107830
• Lead Sponsor: University Hospital, Strasbourg, France

Brief 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

Detailed Description

Not available

Study Timeline

• Study Start: 2021-01-22
• Status Verified: 2021-10
• Study First Submitted: 2021-10-13
• Study First Submitted QC: 2021-10-25
• Last Update Submitted: 2021-10-25
• Study First Posted: 2021-11-04
• Last Update Posted: 2021-11-04
• Primary Completion: 2023-01
• Study Completion: 2023-01

Recruitment & Eligibility

• Status: UNKNOWN
• Sex: All
• Target Recruitment: 186

Inclusion Criteria

Not provided

Exclusion Criteria

Not provided

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Retropsective study of classic presentations of atypical presentations of primitive hyperoxaluria and its characteristics of atypical presentations	Files analysed retrospectively from January 01, 2015 to December 31, 2019 will be examined]

Trial Locations

Locations (1)

Service de Néphrologie et Transplantation - Hôpitaux Universitaires de Strasbourg; 🇫🇷 Strasbourg, France