Phenotyping of Primary Hyperoxaluria

Primary Hyperoxaluria Clinical Trial

— PHENO-HOPLA  

Official title:

Phenotyping of Primary Hyperoxaluria in Children and Adults

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT05107830
• Other study ID #: 8071
• Status: Recruiting
• Start date: January 22, 2021
• Est. completion date: January 2023

Study information

• Verified date: October 2021
• Source: University Hospital, Strasbourg, France
• Contact: Bruno MOULIN, MD, PhD
• Phone: 33 3 69 55 05 11
• Email: Bruno.Moulin[@]chru-strasbourg.fr
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 186
• Est. completion date: January 2023
• Est. primary completion date: January 2023
• Gender: All
• Age group: 1 Year and older

Eligibility

Inclusion criteria:

• Major or minor subject having undergone genetic research for primary hyperoxaluria between 01/01/2015 and 31/12/2019

• Major subject not having expressed, after information, the reuse of his data for the purposes of this research

• Child and holders of parental authority who have not expressed, after information, the reuse of their data for the purposes of this research

Exclusion criteria:

• Subject (or his parental authority if he is a minor) who has expressed his opposition to participating in the study

• Subject not residing in France

• Subject of foreign nationality

• Subject under tutorship or curatorship

• Subject under safeguard of justice

Related Conditions & MeSH terms

• Hyperoxaluria, Primary
• Primary Hyperoxaluria

Locations

Country	Name	City	State
France	Service de Néphrologie et Transplantation - Hôpitaux Universitaires de Strasbourg	Strasbourg

Sponsors (1)

Lead Sponsor	Collaborator
University Hospital, Strasbourg, France

Country where clinical trial is conducted

France, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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]