Phenotyping of Primary Hyperoxaluria (PHENO-HOPLA)

October 25, 2021 updated by: University Hospital, Strasbourg, France

Phenotyping of Primary Hyperoxaluria in Children and Adults

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

Study Overview

Status

Recruiting

Conditions

Study Type

Observational

Enrollment (Anticipated)

186

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Locations

  • France
      • Strasbourg, France, 67091
        • Recruiting
        • Service de Néphrologie et Transplantation - Hôpitaux Universitaires de Strasbourg
        • Sub-Investigator:
          • Justine Bacchetta, MD, PhD
        • Contact:
        • Principal Investigator:
          • Bruno MOULIN, MD, PhD
        • Sub-Investigator:
          • Romain PSZCZOLINSK, MD
        • Sub-Investigator:
          • Cécile ACQUAVIVA, MD

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

1 year and older (Child, Adult, Older Adult)

Accepts Healthy Volunteers

N/A

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

Study Population

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

Description

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 Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Time Frame
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]
Files analysed retrospectively from January 01, 2015 to December 31, 2019 will be examined]

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

University Hospital, Strasbourg, France

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

January 22, 2021

Primary Completion (Anticipated)

January 1, 2023

Study Completion (Anticipated)

January 1, 2023

Study Registration Dates

First Submitted

October 13, 2021

First Submitted That Met QC Criteria

October 25, 2021

First Posted (Actual)

November 4, 2021

Study Record Updates

Last Update Posted (Actual)

November 4, 2021

Last Update Submitted That Met QC Criteria

October 25, 2021

Last Verified

October 1, 2021

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 8071

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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