Clinical trial NCT01457456: Biomarker for Morquio Disease (BioMorquio)
Official title: Biomarker for Morquio Disease AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL
Study type: OBSERVATIONAL
Overall status: WITHDRAWN
Conditions: Morquio Syndrome
Accumulation of Mucopolysaccharides
Morquio Syndrome A
Morquio B Disease
Keywords: Biomarker
Morquio Disease
Lead sponsor: CENTOGENE GmbH Rostock
Sponsor class: INDUSTRY
First posted: 2011-10-24
Enrollment: 0
Sex: ALL
Minimum age (years): 12
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: PROBABILITY_SAMPLE
Study population: Patients with Morquio disease

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

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.

Eligibility 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

Primary outcomes:
measure: Development of a new MS-based biomarker for the early and sensitive diagnosis of Morquio disease from blood (plasma)
timeFrame: 24 month
Secondary outcomes:
measure: Testing for clinical robustness, specificity and long-term stability of the biomarker
timeFrame: 36 months
Other outcomes:
Locations:
city: Cairo
country: Egypt
facility: Children's Hospital, Faculty of Medicine, Ain Shams University
city: Rostock
country: Germany
facility: Centogene AG
city: Cochin
country: India
facility: Amrita Institute of Medical Sciences & Research Centre
state: Kerala
city: Mumbai
country: India
facility: Navi Mumbai Institute of Research In Mental And Neurological Handicap (NIRMAN)
city: Colombo 8
country: Sri Lanka
facility: Lady Ridgeway Hospital for Children
Study officials:
affiliation: Centogene GmbH
name: Peter Bauer, Prof.
role: STUDY_CHAIR
References: