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NCT05107830 Clinical Trial

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
Secondary ID
Status Recruiting
Phase
First received
Last updated
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
Health authority
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
Accepts healthy volunteers
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

Study Design

Related Conditions & MeSH terms

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]
See also
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Recruiting NCT05843851 - Genetic Newborn Screening for Cystinosis and Primary Hyperoxaluria N/A
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Completed NCT03391804 - Study of ALLN-177 in Patients Aged 12 Years or Older With Enteric or Primary Hyperoxaluria and Hyperoxalemia Phase 2
Completed NCT03116685 - A Study to Evaluate the Efficacy and Safety of Oxabact in Patients With Primary Hyperoxaluria Phase 3
Active, not recruiting NCT04152200 - A Study to Evaluate Lumasiran in Patients With Advanced Primary Hyperoxaluria Type 1 Phase 3
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Completed NCT03392896 - Study of DCR-PHXC-101 in Normal Healthy Volunteers and Patients With Primary Hyperoxaluria Phase 1
Completed NCT02012985 - Study to Evaluate the Efficacy and Safety of Oxabact (OC5) in Patients With Primary Hyperoxaluria Phase 1/Phase 2
Completed NCT01037231 - Phase 2/3 Oxabact Study Phase 2/Phase 3
Completed NCT00589225 - Primary Hyperoxaluria Mutation Genotyping Phase 1
Completed NCT02124395 - Health-related Quality of Life in Rare Kidney Stone
Completed NCT03350451 - An Extension Study of an Investigational Drug, Lumasiran (ALN-GO1), in Participants With Primary Hyperoxaluria Type 1 Phase 2