Biomarker for Maroteaux-Lamy Disease (BIOMAROTEAUX)

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. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT01458613
Recruitment Status : Not yet recruiting
First Posted : October 25, 2011
Last Update Posted : August 28, 2018
Information provided by (Responsible Party):
Centogene AG Rostock

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

Condition or disease
Lysosomal Storage Disease Lung Diseases Obstructive Sleep Apnoea Macroglossia Bone Abnormalities Eye Abnormalities

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.

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

Patients with Maroteaux-Lamy disease

Primary Outcome Measures :
  1. Development of a new MS-based biomarker for the early and sensitive diagnosis of Maroteaux-Lamy disease from blood (plasma) [ 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 10 ml EDTA blood or a dry blood spot filter card 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 will be done at 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 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

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

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): NCT01458613

Contact: Anton Mamin, Dr. +49 381 80113 535
Contact: Volha Skrahina +49 381 80 113 594

Clinics Hospital of Ribeirao Preto- University of Sao Paulo Not yet recruiting
Sao Paulo, Brazil, 14048-900
Contact: Charles Marques Lourenco, MD   
Principal Investigator: Charles Marques Lourenco, MD         
University of Rostock, Albrecht-Kossel-Institute Not yet 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 Not yet recruiting
Mumbai, India, 400705
Contact: Anil Jalan, MD   
Principal Investigator: Anil Jalan, MD         
Saudi Arabia
Dhahran Health Center- Saudi Medical Services Organization Not yet 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
Centogene AG Rostock
Principal Investigator: Arndt Rolfs, Prof. Centogene AG Rostock

Additional Information:
Responsible Party: Centogene AG Rostock Identifier: NCT01458613     History of Changes
Other Study ID Numbers: BMAL 06-2018
First Posted: October 25, 2011    Key Record Dates
Last Update Posted: August 28, 2018
Last Verified: June 2018
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Undecided

Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No

Keywords provided by Centogene AG Rostock:
Maroteaux-Lamy Disease

Additional relevant MeSH terms:
Sleep Apnea, Obstructive
Lung Diseases
Congenital Abnormalities
Lysosomal Storage Diseases
Eye Abnormalities
Mucopolysaccharidosis VI
Sleep Apnea Syndromes
Respiration Disorders
Respiratory Tract Diseases
Sleep Disorders, Intrinsic
Sleep Wake Disorders
Nervous System Diseases
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Metabolic Diseases
Eye Diseases
Carbohydrate Metabolism, Inborn Errors
Connective Tissue Diseases
Tongue Diseases
Mouth Diseases
Stomatognathic Diseases