Diseasy Severity in patients with heterozygous COL4A3 or COL4A4 pathogenic Variants and Exploration of Risk factors.

Recruiting

• Conditions: Alport Syndrome; Thin Basal Membrane Nephropathy; 10019243; 10029149

• Registration Number: NL-OMON51423
• Lead Sponsor: Radboud Universitair Medisch Centrum

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Results First Posted: 1900-01-01
• Last Update Posted: 9 April 2024

Recruitment & Eligibility

• Status: Recruiting
• Sex: Not specified
• Target Recruitment: 200

Inclusion Criteria

1. Patients (probands) & family members
• with a likely or proven pathogenic variant in COL4A3 or COL4A4

2. Family members
• First or second-degree relatives of a patient with a likely or proven
pathogenic variant in COL4A3 or COL4A4 who have not undergone genetic analysis
yet

3. COL4A5 validation group:
• Patients with a proven pathogenic variant in COL4A5

Exclusion Criteria

• Inability to provide informed consent
• Age below 18 years

Study & Design

• Study Type: Observational invasive
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
<p>Proportion of participants with pathogenic variants in COL4A3/COL4A4 and<br /><br>no/mild/ /severe kidney disease.</p><br>

Secondary Outcome Measures

Name	Time	Method
<p>• Environmental factors associated with disease severity<br /><br>• Hearing loss within patients with COL4A3/COL4A4 genetic variants<br /><br>• Number of patients with intronic and somatic COL4A3/COL4A4 pathogenic variants<br /><br>• Number of patients with additional podocyte-associated pathogenic genetic<br /><br>variants<br /><br>• Overall risk stratification for categorisation in phenotype (mild/ severe)</p><br>