Biomarker for Maroteaux-Lamy Disease (BioMaroteaux)

This study is currently recruiting participants. (see Contacts and Locations)
Verified May 2015 by University of Rostock
Centogene AG Rostock
Information provided by (Responsible Party):
Prof. Dr. Arndt Rolfs, University of Rostock Identifier:
First received: October 24, 2011
Last updated: May 7, 2015
Last verified: May 2015

Development of a new MS-based biomarker for the early and sensitive diagnosis of Maroteaux-Lamy dis-ease from plasma and sputum

Maroteaux-lamy Disease
Lysosomal Storage Diseases

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Prospective

Resource links provided by NLM:

Further study details as provided by University of Rostock:

Primary Outcome Measures:
  • Development of a new MS-based biomarker for the early and sensitive diagnosis of Maroteaux-lamy disease from plasma and saliva [ Time Frame: 24 month ] [ Designated as safety issue: No ]

Secondary Outcome Measures:
  • Testing for clinical robustness, specificity and long-term stability of the biomarker [ Time Frame: 24 month ] [ Designated as safety issue: No ]

Biospecimen Retention:   Samples With DNA

For the development of the new biomarkers using the technique of mass-spectometry 7,5 ml EDTA blood, a dry blood spot filter card and a sputum tube are taken. To proof the correct Maroteaux-Lamy diagnosis in those patients where up to the enrollment in the study no genetic testing has been done, sequencing of Maroteaux-Lamy will be done as routine diagnostic.

The analyses are done in the

Albrecht-Kossel-Institute for Neuroregeneration Centre for Mental Health University of Rostock Gehlsheimerstrasse 20 D-18147 Rostock Germany

Estimated Enrollment: 80
Study Start Date: October 2011
Estimated Study Completion Date: November 2016
Estimated Primary Completion Date: October 2016 (Final data collection date for primary outcome measure)
Patients with Maroteaux-Lamy disease based upon biochemical and/or genetic criteria

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 breakdown 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.


Ages Eligible for Study:   12 Months and older
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Sampling Method:   Probability Sample
Study Population

Patients with Maroteaux-Lamy Disease


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 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 Maroteaux-Lamy disease
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT01458613

Contact: Arndt Rolfs, MD 49 381 494 ext 9540
Contact: Susanne Zielke 49 381 494 ext 4739

Clinics Hospital of Ribeirao Preto- University of Sao Paulo Recruiting
Sao Paulo, Brazil, 14048-900
Contact: Charles Marques Lourenco, MD   
Principal Investigator: Charles Marques Lourenco, MD         
University of Rostock, Albrecht-Kossel-Institute Recruiting
Rostock, Germany, 18147
Contact: Arndt Rolfs, MD    49 381 494 ext 9540   
Contact: Susanne Zielke    49 381 494 ext 4739   
Principal Investigator: Arndt Rolfs, MD         
NIRMAN, University of Mumbai Recruiting
Mumbai, India, 400705
Contact: Anil Jalan, MD   
Principal Investigator: Anil Jalan, MD         
Saudi Arabia
Dhahran Health Center- Saudi Medical Services Organization Recruiting
Dhahran, Saudi Arabia, 31311
Contact: Nouriya Abbas Al-Sannaa, MD    +9663 877 ext 8290   
Principal Investigator: Nouriya Abbas Al-Sannaa, MD         
Sponsors and Collaborators
University of Rostock
Centogene AG Rostock
  More Information

Additional Information:
No publications provided

Responsible Party: Prof. Dr. Arndt Rolfs, Prof. Dr. med., University of Rostock Identifier: NCT01458613     History of Changes
Other Study ID Numbers: BML10/2011
Study First Received: October 24, 2011
Last Updated: May 7, 2015
Health Authority: Germany: Ethics Commission

Keywords provided by University of Rostock:
Mucopolysaccharidosis VI
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Connective Tissue Diseases
Metabolic Diseases

Additional relevant MeSH terms:
Lysosomal Storage Diseases
Mucopolysaccharidosis VI
Carbohydrate Metabolism, Inborn Errors
Connective Tissue Diseases
Genetic Diseases, Inborn
Metabolic Diseases
Metabolism, Inborn Errors
Mucopolysaccharidoses processed this record on October 06, 2015