Biomarker for Morquio Disease (BioMorquio)
|The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.|
|ClinicalTrials.gov Identifier: NCT01457456|
Recruitment Status : Terminated (the Albrecht Kossel Institute of University Rostock terminated participation in the study conduct; Study Sponsorship is moved to Centogene AG)
First Posted : October 24, 2011
Last Update Posted : July 2, 2018
|Condition or disease|
|Lysosomal Storage Diseases Morquio Disease|
Morquio syndrome (mucopolysaccharidosis type IV; MPS IV) is a mucopolysaccharide stor-age disease that exists in two forms (Morquio syndromes A and B) and occurs because of a deficiency of the enzymes N-acetyl-galactosamine-6-sulfatase and beta-galactosidase, respectively. A deficiency of either enzyme leads to the accumulation of mucopolysaccharides in the body, abnormal skeletal development, and additional symptoms. In most cases, individuals with Morquio syndrome have normal intelligence. The clinical features of MPS IV-B are less severe than those associated with MPS IV-A. Symptoms may include growth retardation, a prominent lower face, an abnormally short neck, knees that are abnormally close together (knock knees or genu valgum), flat feet, abnormal sideways and front-to-back or side-to-side curvature of the spine (kyphoscoliosis), abnormal development of the growing ends of the long bones (epiphyses) resulting in dwarfism, and/or a prominent breast bone (pectus carinatum) as well as bell shaped chest. Though the CNS and peripheral nerves are primarily not affected the bone defects may result in neurological symptoms such as spinal cord compression.
Hearing loss, weakness of the legs, and/or additional abnormalities may also occur.
The mucopolysaccharidoses (MPS) are a group of inherited lysosomal storage disorders. Lysosomes function as the primary digestive units within cells. Enzymes within lysosomes break down or digest particular nutrients, such as certain carbohydrates and fats. In individuals with MPS disorders, deficiency or malfunction of specific lysosomal enzymes lead to an abnormal accumulation of certain complex carbohydrates (mucopolysaccharides or glyco-saminoglycans) in the arteries, skeleton, eyes, joints, ears, skin and/or teeth. These accumulations may also be found in the respiratory system, liver, spleen, central nervous system, blood, and bone marrow. This accumulation eventually causes progressive damage to cells, tissues, and various organ systems of the body. There are several different types and subtypes of mucopolysaccharidosis. These disorders, with one exception, are inherited as autosomal recessive traits and all vary in their clinical phenotype. Within our clinical trial we focus on MPS type IV.
New methods, like mass-spectrometry give a good chance to characterize in the blood (plasma) of affected patents specific metabolic alterations that allow to diagnose in the future the disease earlier, with a higher sensitivity and specificity. Therefore it is the goal of the study to develop new biochemical markers from the plasma of the affected patients helping to benefit the patient by an early diagnose and thereby with an earlier treatment.
|Study Type :||Observational|
|Actual Enrollment :||250 participants|
|Official Title:||Biomarker for Morquio Disease AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL|
|Study Start Date :||October 2011|
|Actual Primary Completion Date :||June 2018|
|Actual Study Completion Date :||June 2018|
Patients with Morquio disease at 12 months
- Development of a new MS-based biomarker for the early and sensitive diagnosis of Morquio disease from plasma and saliva [ Time Frame: 24 month ]
- Testing for clinical robustness, specificity and long-term stability of the biomarker [ Time Frame: 24 month ]
Biospecimen Retention: Samples With DNA
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01457456
|Oran, Algeria, 31000|
|Clinics Hospital of Ribeirao Preto- University of Sao Paulo|
|Sao Paulo, Brazil, 14048-900|
|University of Rostock, Albrecht Kossel Institute|
|Rostock, Germany, 18147|
|NIRMA, University of Mumbai|
|Mumbai, India, 400705|
|Dhahran Health Center - Saudi Aramco Medical Services Organization|
|Dhahran, Saudi Arabia, 31311|
|Mother and Child Health Institute of Serbia "Dr Vukan Cupic"|
|Belgrad, Serbia, 11070|
|Principal Investigator:||Arndt Rolfs, MD||Albrecht Kossel Institute Rostock|