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Phenotyping of Primary Hyperoxaluria

NCT ID: NCT05107830

Last Updated: 2021-11-04

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

UNKNOWN

Total Enrollment

186 participants

Study Classification

OBSERVATIONAL

Study Start Date

2021-01-22

Study Completion Date

2023-01-31

Brief Summary

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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

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Conditions

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Primary Hyperoxaluria

Keywords

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Primary hyperoxaluria Autosomal recessive Urolithiasis. Nephrocalcinosis Renal failure

Study Design

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Observational Model Type

CASE_CONTROL

Study Time Perspective

RETROSPECTIVE

Eligibility Criteria

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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
Minimum Eligible Age

1 Year

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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University Hospital, Strasbourg, France

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Locations

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Service de Néphrologie et Transplantation - Hôpitaux Universitaires de Strasbourg

Strasbourg, , France

Site Status RECRUITING

Countries

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France

Central Contacts

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Bruno MOULIN, MD, PhD

Role: CONTACT

Phone: 33 3 69 55 05 11

Email: [email protected]

Saïd CHAYER, PhD, HDR

Role: CONTACT

Email: [email protected]

Facility Contacts

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Bruno MOULIN, MD, PhD

Role: primary

Saïd CHAYER, PhD, HDR

Role: backup

Other Identifiers

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8071

Identifier Type: -

Identifier Source: org_study_id