Clinical Trial: Biomarker for Hypophosphatasia Disease
Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational
Official Title: Biomarker for Hypophosphatasia Disease AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL
Brief Summary: Development of a new MS-based biomarker for the early and sensitive diagnosis of Hypophosphatasia disease from plasma
Detailed Summary:
Hypophosphatasia (HPP) is a rare genetic disorder characterized the abnormal devel-opment of bones and teeth. These abnormalities occur due to defective mineralization, the process by which bones and teeth take up minerals such as calcium and phosphorus. These minerals are required for proper hardness and strength. Defective mineralization results in bones that are soft and prone to fracture and deformity. Defective mineralization of teeth can lead to premature tooth loss. The specific symptoms can vary greatly from one person to another, sometimes even among members of the same family. There are five major clinical forms of HPP that range from an extremely severe form that can cause stillbirth to a form associated with only premature loss of baby (deciduous) teeth, but no bone abnormalities. Hypophosphatasia is caused by mutations in the tissue non-specific alkaline phosphatase (ALPL) gene. This gene is also known as the TNSALP gene. Such mutations lead to low levels of the tissue nonspecific alkaline phosphatase enzyme. Depending on the specific form, hypophosphatasia can be inherited in an auto-somal recessive or autosomal dominant manner.
Hypophosphatasia is an extremely variable disorder. Five major clinical forms have been identified based primarily upon the age of onset of symptoms and diagnosis. These are known as perinatal, infantile, childhood, adult, and odontohypophosphatasia. Generally, the severity of these different forms of hypophosphatasia correlates to the residual alkaline phosphate activity in the body, with less enzyme activity causing more severe dis-ease. Because hypophosphatasia is a highly variable disorder, it is important to note that affected individuals may not have all of the symptoms and that every individual case is unique. Some children will develop severe complications early in life; others have mild disease that may improve during young
Sponsor: University of Rostock
Current Primary Outcome: Development of a new MS-based biomarker for the early and sensitive diagnosis of Hypophosphatasia disease using the technique of Mass-spectometry 10ml EDTA blood and a dry blood spot filter card [ Time Frame: 36 months ]
Original Primary Outcome: Development of a new MS-based biomarker for the early and sensitive diagnosis of Hypophosphatasia disease from plasma [ Time Frame: 36 months ]
Current Secondary Outcome: Testing for clinical robustness, specificity and long-term stability of the biomarker [ Time Frame: 36 months ]
Original Secondary Outcome: Number of correctly identified patients with Hypophos-phatasia disease [ Time Frame: 36 months ]
Information By: University of Rostock
Dates:
Date Received: November 10, 2015
Date Started: November 2015
Date Completion: November 2018
Last Updated: April 26, 2017
Last Verified: April 2017
