Biomarker for Maroteaux-Lamy Disease (BioMaroteaux)



Lead Sponsor: CENTOGENE GmbH Rostock

Source CENTOGENE GmbH Rostock
Brief Summary

Development of a new MS-based biomarker for the early and sensitive diagnosis of Maroteaux-Lamy disease from blood

Detailed Description

Maroteaux-Lamy disease (MPS VI) is a lysosomal storage disease inherited in an autosomal recessive pattern. The responsible mutations lie in ARSB (5q11-q13), the gene that encodes the enzyme arylsulfatase B. The phenotype results from defective dermatan sulfate break-down with lysosomal accumulation. This accumulation of glycosaminoglycans is responsible for the widespread signs and symptoms found in this disease. Bone destruction in shoulders, hips and skull is often seen by the second decade of life and may become evident later in the knees and spine. Early growth may be normal but eventually slows resulting in short stature. Dysplasia of bones comprising these joints leads to stiffness and restricted movement. The face is dysmorphic with coarse features. Bone dysplasia and facial dysmorphism may be seen at birth. Myelopathy and even tetraplegia can result from vertebral compression. Intelligence is often normal although more severely affected individuals may have some cognitive defects due to impaired vision and hearing. Hepatosplenomegaly is common and compromised respiratory function can result in reduced physical stamina. The tongue is usually enlarged. Accumulation of dermatan sulfate in heart valves may produce insufficiency or restriction of outflow. A diagnosis of Maroteaux-Lamy disease can be confirmed by screening for the common genetic mutations or measuring the level of the arylsulfatase B enzyme activity in a blood sample -- a test that has 100 percent accuracy. Once Maroteaux-Lamy disease is diagnosed, testing of all family members and consultation with a professional geneticist is recommended. Carriers are most reliably identified via genetic mutation analysis. 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.

Overall Status Active, not recruiting
Start Date 2018-08-20
Completion Date 2021-08-01
Primary Completion Date 2021-08-01
Study Type Observational
Primary Outcome
Measure Time Frame
Development of a new MS-based biomarker for the early and sensitive diagnosis of Maroteaux-Lamy disease from blood (plasma) 24 month
Secondary Outcome
Measure Time Frame
Testing for clinical robustness, specificity and long-term stability of the biomarker 36 months
Enrollment 1000

Sampling Method:

Probability Sample


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 Maroteaux-Lamy 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 Maroteaux-Lamy disease



Minimum Age:

12 Months

Maximum Age:


Healthy Volunteers:


Overall Official
Last Name Role Affiliation
Peter Bauer, Prof. Study Chair Centogene GmbH
Children's Hospital, Faculty of Medicine, Ain Shams University | Cairo, 89075, Egypt
Centogene AG | Rostock, 18055, Germany
Amrita Institute of Medical Sciences & Research Centre | Cochin, Kerala, 682041, India
Navi Mumbai Institute of Research In Mental And Neurological Handicap (NIRMAN) | Mumbai, 400705, India
Lady Ridgeway Hospital for Children | Colombo 8, 00800c, Sri Lanka
Location Countries




Sri Lanka

Verification Date


Responsible Party

Type: Sponsor

Has Expanded Access No
Condition Browse
Arm Group

Label: Observation

Description: Patients with Maroteaux-Lamy disease

Acronym BioMaroteaux
Patient Data Undecided
Study Design Info

Observational Model: Cohort

Time Perspective: Prospective

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