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Biomarker for Morquio Disease (BioMorquio) (BioMorquio)

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ClinicalTrials.gov Identifier: NCT01457456
Recruitment Status : Recruiting
First Posted : October 24, 2011
Last Update Posted : September 17, 2019
Sponsor:
Information provided by (Responsible Party):
Centogene AG Rostock

Brief Summary:
Development of a new MS-based biomarker for the early and sensitive diagnosis of Morquio disease from plasma

Condition or disease
Morquio Syndrome Accumulation of Mucopolysaccharides Morquio Syndrome A Morquio B Disease

Detailed Description:

Morquio syndrome (mucopolysaccharidosis type IV; MPS IV) is a mucopolysaccharide storage 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 glycosaminoglycans) 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.


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Study Type : Observational
Estimated Enrollment : 1000 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Biomarker for Morquio Disease AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL
Actual Study Start Date : August 20, 2018
Estimated Primary Completion Date : August 2021
Estimated Study Completion Date : August 2021


Group/Cohort
Observation
Patients with Morquio disease



Primary Outcome Measures :
  1. Development of a new MS-based biomarker for the early and sensitive diagnosis of Morquio disease from blood (plasma) [ Time Frame: 24 month ]
    New methods, like mass-spectrometry give a good chance to characterize specific metabolic alterations in the blood of affected patients that allow diagnosing in the future the disease earlier, with a higher sensitivity and specificity.


Secondary Outcome Measures :
  1. Testing for clinical robustness, specificity and long-term stability of the biomarker [ Time Frame: 36 months ]
    the goal of the study to identify and validate a new biochemical marker from the blood of the affected patients helping to benefit other patients by an early diagnose and thereby with an earlier treatment


Biospecimen Retention:   Samples With DNA

For the development of the new biomarkers using the technique of mass-spectometry 10 ml EDTA blood and a dry blood spot filter card are used. To prove the correct Morquio diagnosis in those patients where up to the enrollment in the study no genetic testing has been done, sequencing of Morquio will be done as routine diagnostic sequencing.

The analyses will done in the Centogene AG Am Strande 7 18055 Rostock Germany



Information from the National Library of Medicine

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Ages Eligible for Study:   12 Months and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Probability Sample
Study Population
Patients with Morquio disease
Criteria

INCLUSION CRITERIA:

  • Informed consent will be obtained from the patient or the parents before any study related procedures
  • Patients older than 12 months
  • The patient has a diagnosis of Morquio disease

EXCLUSION CRITERIA:

  • No Informed consent from the patient or the parents before any study related procedures.
  • Patients younger than 12 months
  • The patient has no diagnosis of Morquio disease

Information from the National Library of Medicine

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


Contacts
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Contact: Arndt Rolfs, Prof +4938180113500 ext 500 arndt.rolfs@centogene.com

Locations
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Egypt
Children Hospital, Faculty of Medicine, Cairo University Recruiting
Cairo, Egypt, 11511
Contact: Laila Selim, Prof.         
Germany
Centogene AG Active, not recruiting
Rostock, Germany, 18055
India
Amrita Institute of Medical Sciences & Research Centre Recruiting
Cochin, Kerala, India, 682041
Contact: Sheela Nampoothiri, Dr.         
Navi Mumbai Institute of Research In Mental And Neurological Handicap (NIRMAN) Recruiting
Mumbai, India, 400705
Contact: Anil Jalan, Dr.         
Pakistan
Childrens Hospital and Institute of Child Health, Ferozepur Road Recruiting
Lahore, Pakistan, 54600
Contact: Huma Arshad Cheema, Prof.         
Contact: Nadeem Anjum, MD         
Sponsors and Collaborators
Centogene AG Rostock
Investigators
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Principal Investigator: Arndt Rolfs, Prof. Centogene AG Rostock

Additional Information:
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Responsible Party: Centogene AG Rostock
ClinicalTrials.gov Identifier: NCT01457456     History of Changes
Other Study ID Numbers: BM 06-2018
First Posted: October 24, 2011    Key Record Dates
Last Update Posted: September 17, 2019
Last Verified: January 2019

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by Centogene AG Rostock:
Biomarker
Morquio Disease
Additional relevant MeSH terms:
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Osteochondrodysplasias
Mucopolysaccharidosis IV
Syndrome
Disease
Pathologic Processes
Mucopolysaccharidoses
Carbohydrate Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Lysosomal Storage Diseases
Mucinoses
Connective Tissue Diseases
Metabolic Diseases
Bone Diseases, Developmental
Bone Diseases
Musculoskeletal Diseases