Biomarker for Maroteaux-Lamy Disease (BioMaroteaux) (BioMaroteaux)
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|ClinicalTrials.gov Identifier: NCT01458613|
Recruitment Status : Active, not recruiting
First Posted : October 25, 2011
Last Update Posted : April 3, 2020
|Condition or disease|
|Lysosomal Storage Disease Lung Diseases Obstructive Sleep Apnoea Macroglossia Eye Abnormalities|
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|
|Official Title:||Biomarker for Maroteaux-Lamy Disease: BioMaroteaux-Lamy AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL|
|Actual Study Start Date :||August 20, 2018|
|Estimated Primary Completion Date :||August 2021|
|Estimated Study Completion Date :||August 2021|
Patients with Maroteaux-Lamy disease
- Development of a new MS-based biomarker for the early and sensitive diagnosis of Maroteaux-Lamy disease from blood (plasma) [ Time Frame: 24 month ]New methods, like mass-spectrometry give a good chance to characterize specific metabolic alterations in the blood of affected patients that allow diagnosing in the future the disease earlier, with a higher sensitivity and specificity.
- Testing for clinical robustness, specificity and long-term stability of the biomarker [ Time Frame: 36 months ]the goal of the study to identify and validate a new biochemical marker from the blood of the affected patients helping to benefit other patients by an early diagnose and thereby with an earlier treatment
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
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 ClinicalTrials.gov identifier (NCT number): NCT01458613
|Children's Hospital, Faculty of Medicine, Ain Shams University|
|Cairo, Egypt, 89075|
|Rostock, Germany, 18055|
|Amrita Institute of Medical Sciences & Research Centre|
|Cochin, Kerala, India, 682041|
|Navi Mumbai Institute of Research In Mental And Neurological Handicap (NIRMAN)|
|Mumbai, India, 400705|
|Lady Ridgeway Hospital for Children|
|Colombo 8, Sri Lanka, 00800c|
|Principal Investigator:||Arndt Rolfs, Prof.||Centogene AG Rostock|