Phenotyping of Primary Hyperoxaluria

NCT05107830 | Unknown

• 1 other identifier: 8071
• Study Type: observational
• Target: 186
• Locations: 1 country
• Sites: 1

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

Conditions

Primary Hyperoxaluria

Keywords

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

Outcome Measures

Primary Outcomes (1)

• 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]

Eligibility Criteria

• Age: 1 Year+
• Sex: all
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• 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

You may qualify if:

• 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

You may not qualify if:

• 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

Sponsors & Collaborators

• University Hospital, Strasbourg, France: lead

Study Sites (1)

Service de Néphrologie et Transplantation - Hôpitaux Universitaires de Strasbourg

Strasbourg, 67091, France

RECRUITING

MeSH Terms

Conditions

Hyperoxaluria, Primary; Urolithiasis; Nephrocalcinosis; Renal Insufficiency

Condition Hierarchy (Ancestors)

Hyperoxaluria; Kidney Diseases; Urologic Diseases; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Male Urogenital Diseases; Carbohydrate Metabolism, Inborn Errors; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolic Diseases; Nutritional and Metabolic Diseases; Calcinosis; Calcium Metabolism Disorders

Central Study Contacts

Bruno MOULIN, MD, PhD

CONTACT

33 3 69 55 05 11; Bruno.Moulin@chru-strasbourg.fr

Saïd CHAYER, PhD, HDR

CONTACT

said.chayer@chru-strasbourg.fr

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: October 13, 2021
• First Posted: November 4, 2021
• Study Start: January 22, 2021
• Primary Completion: January 1, 2023
• Study Completion: January 1, 2023
• Last Updated: November 4, 2021

Record last verified: 2021-10

Locations

FR (1)