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

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

Status

Recruiting

Phases

Unknown

Study type

Observational

Source

NL-OMON

Registry ID

NL-OMON51423

Enrollment

200

Registered

2022-04-26

Start date

2023-01-18

Completion date

Unknown

Last updated

2026-06-01

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

Conditions

Alport Syndrome Thin Basal Membrane Nephropathy Alport

Interventions

nvt&nbsp

Eligibility

Age

18 Years to 99 Years

Inclusion criteria

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

Exclusion criteria: • Inability to provide informed consent • Age below 18 years

Design outcomes

Primary

Measure	Time frame
Proportion of participants with pathogenic variants in COL4A3/COL4A4 and no/mild/ /severe kidney disease.	—

Secondary

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

Countries

Netherlands

Contacts

Public ContactD Rao

Radboud Universitair Medisch Centrum

secretariaat.nier@radboudumc.nl0243614761

Outcome results

None listed

Source: NL-OMON (via WHO ICTRP) · Data processed: Jun 11, 2026