Understanding genetic factors in Alport Syndrome

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This observational study focuses on Alport syndrome, a genetic disorder caused by mutations in specific collagen genes. It aims to enroll families and patients with a history of renal hematuria across 27 hospitals in the Huadong region of China. Using next-generation sequencing, the study will analyze the relationship between genetic variants in the COL4A3, COL4A4, and COL4A5 genes and various clinical outcomes, such as kidney disease progression and hearing loss. The goal is to better understand how these genetic factors influence the disease's phenotype.

Why it matters

Who can join: the full rules

Inclusion Criteria:

1. Age: up to 99 Years (Child, Adult, Older Adult)
2. Sex: All;
3. Families and patients with a history of renal hematuria;
4. Those who signed the informed consent.

Exclusion Criteria:

1. Polycystic kidney disease, hypertensive nephropathy, etc.;
2. Kidney biopsy is diagnosed as other primary/secondary kidney disease without type IV collagen-related kidney disease, including IgA nephropathy, membranous nephropathy, lupus nephritis, etc.
3. Incomplete medical history or clinical data.

Where it's running

• China Xinhua Hospital, Shanghai Jiao Tong University School of Medicine.
  Shanghai, China Recruiting

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

• Periodontal Health in Rare Kidney Conditions and Controls

  This study tests how common periodontitis is in people with rare kidney disorders and compares it to CKD patients and people without kidney disease.

  Recruiting Institutul Clinic Fundeni · Bucharest · NCT07575347

• Registry for patients with Alport syndrome

  This study is creating a registry for people with Alport syndrome to share their health information, which will help researchers learn more about the condition and develop new treatments.

  Recruiting Alport Syndrome Foundation · Scottsdale, Arizona · NCT06526741

• National Registry for Rare Kidney Diseases

  This study is collecting health information from people with rare kidney diseases to help improve treatments and create better care guidelines.

  Recruiting UK Kidney Association · Bristol, South West · NCT06065852

• Observational study on Alport Syndrome

  This study is looking at how Alport syndrome affects people over time and whether new treatments that worked in animals can help improve their health and quality of life.

  Recruiting Institut National de la Santé Et de la Recherche Médicale, France · Paris, Île-de-France Region · NCT05927467

• Treatment of pediatric kidney diseases with Sparsentan

  This study is testing if a new oral medication called Sparsentan can help children aged 1 to 18 with certain kidney diseases feel better and improve their condition over two years.

  Recruiting at 38 sites Phase 2 Travere Therapeutics, Inc. · Los Angeles, California and 46 other locations · NCT05003986

• NEPTUNE Match: Personalized matching of patients to kidney treatment options

  This project will try a system that matches people in the NEPTUNE cohort who have nephrotic syndromes or related kidney diseases with suitable clinical trials and shares those matches with patients and their doctors.

  Recruiting at 15 sites University of Michigan · Atlanta, Georgia and 15 other locations · NCT04571658

How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.