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. 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
Centogene AG Rostock
Information provided by (Responsible Party):
Prof. Dr. Arndt Rolfs, University of Rostock

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

Condition or disease
Lysosomal Storage Diseases Morquio Disease

Detailed Description:

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
Observational Model: Cohort
Time Perspective: Prospective
Study Start Date : October 2011
Actual Primary Completion Date : June 2018
Actual Study Completion Date : June 2018

Patients with Morquio disease at 12 months

Primary Outcome Measures :
  1. Development of a new MS-based biomarker for the early and sensitive diagnosis of Morquio disease from plasma and saliva [ Time Frame: 24 month ]

Secondary Outcome Measures :
  1. Testing for clinical robustness, specificity and long-term stability of the biomarker [ Time Frame: 24 month ]

Biospecimen Retention:   Samples With DNA
For the development of the new biomarkers using the technique of Mass-spectometry 7,5 ml EDTA blood,sputum tube and a dry blood spot filter card are taken. To proof 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. The analyses are done in the Albrecht-Kossel-Institute for Neuroregeneration (AKos), POB 100 888, Gehlsheimer Str. 20, 18055 Rostock (Germany)

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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 based upon biochemical and/or genetic 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 based upon biochemical and/or genetic criteria

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 identifier (NCT number): NCT01457456

Pediatric practice
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
Saudi Arabia
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
Sponsors and Collaborators
University of Rostock
Centogene AG Rostock
Principal Investigator: Arndt Rolfs, MD Albrecht Kossel Institute Rostock

Additional Information:
Responsible Party: Prof. Dr. Arndt Rolfs, Prof. Dr. med., University of Rostock Identifier: NCT01457456     History of Changes
Other Study ID Numbers: BM08/2011
First Posted: October 24, 2011    Key Record Dates
Last Update Posted: July 2, 2018
Last Verified: June 2018

Keywords provided by Prof. Dr. Arndt Rolfs, University of Rostock:
Mucopolysaccharidosis IV
Carbohydrate Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Lysosomal Storage Diseases
Connective Tissue Diseases
Metabolic Diseases
Musculoskeletal Diseases

Additional relevant MeSH terms:
Mucopolysaccharidosis IV
Lysosomal Storage Diseases
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Metabolic Diseases
Carbohydrate Metabolism, Inborn Errors
Connective Tissue Diseases
Bone Diseases, Developmental
Bone Diseases
Musculoskeletal Diseases