Clinical Trial: Biomarker for Patient With Alport Disease or Highly Suspected for Alport Disease
Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational
Official Title: Biomarker for Alport Disease - an International Epidemiological Protocol
Brief Summary: Development of a new MS-based biomarker for the early and sensitive diagnosis of Alport disease from plasma.
Detailed Summary:
Alport Syndrome is an inherited disease that primarily affects the glomeruli, the tiny tufts of capillaries in the kidneys that filter wastes from the blood. The disease was first described by an English doctor named A. Cecil Alport. This disease is caused by changes in genes (mutations) that affect type IV collagen, a protein that is important to the normal structure and function of glomeruli. The earliest symptom of the disease is blood in the urine (hematuria). Alport Syndrome always affects the kidneys. Many people with Alport Syndrome also have hearing problems and abnormalities of the eyes, because the type IV collagen proteins are important to the normal structure and function of the inner ear and the eye. Other signs and symptoms may include:
- Blood in the urine (hematuria), the most common and earliest sign of Alport syndrome
- Protein in the urine (proteinuria)
- Swelling in the legs, ankle, feet and around the eyes
These signs and symptoms may differ, based on age, gender and the genetic type of Alport Syndrome. For example, hearing and vision problems tend to be more common in males than females. High blood pressure is usually detected later in life.
The central feature of the disease is the presence of blood in the urine (hematuria). Boys with X-linked Alport Syndrome develop hematuria in infancy, and it is always present. The great majority of girls with X-linked Alport Syndrome also have hematuria; the hematuria of Alport Syndrome is usually microscopic, meaning it can only be detected with a microscope or a urine dipstick. Sometimes children with Alport Syndrome have brown, pink or red urine (gross hematuria) for several days, brought on by a cold or the f
Sponsor: University of Rostock
Current Primary Outcome: Development of a new MS-based biomarker for the early diagnosis of Alport disease from plasma [ Time Frame: 24 months ]
Original Primary Outcome: Same as current
Current Secondary Outcome: Number of correctly identified patients with Alport disease [ Time Frame: 24 months ]
Original Secondary Outcome: Same as current
Information By: University of Rostock
Dates:
Date Received: November 10, 2015
Date Started: November 2015
Date Completion: November 2017
Last Updated: September 19, 2016
Last Verified: September 2016
