Phenotyping of Primary Hyperoxaluria

Phenotyping of Primary Hyperoxaluria in Children and Adults

Status

UNKNOWN

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT05107830

Acronym

PHENO-HOPLA

Enrollment

186

Registered

2021-11-04

Start date

2021-01-22

Completion date

2023-01-31

Last updated

2021-11-04

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Primary Hyperoxaluria

Keywords

Primary hyperoxaluria, Autosomal recessive, Urolithiasis., Nephrocalcinosis, Renal failure

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

Interventions

None listed

Study design

Observational model

CASE_CONTROL

Time perspective

RETROSPECTIVE

Eligibility

Sex/Gender

ALL

Age

1 Years to No maximum

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

Design outcomes

Primary

Measure	Time frame
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]

Countries

France

Contacts

Primary ContactBruno MOULIN, MD, PhD

Bruno.Moulin@chru-strasbourg.fr33 3 69 55 05 11

Backup ContactSaïd CHAYER, PhD, HDR

said.chayer@chru-strasbourg.fr

Outcome results