Biomarker for Maroteaux-Lamy Disease (BioMaroteaux)

Withdrawn

• Conditions: Lysosomal Storage Disease; Eye Abnormalities; Lung Diseases; Macroglossia; Obstructive Sleep Apnoea

• Registration Number: NCT01458613
• Lead Sponsor: 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.

Study Timeline

• Study First Submitted: 2011-10-24
• Study First Submitted QC: 2011-10-24
• Study First Posted: 2011-10-25
• Study Start: 2018-08-20
• Primary Completion: 2021-02-28
• Study Completion: 2021-02-28
• Status Verified: 2023-02
• Last Update Submitted: 2023-02-09
• Last Update Posted: 2023-02-13

Recruitment & Eligibility

• Status: WITHDRAWN
• Sex: All
• Target Recruitment: Not specified

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

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Development of a new MS-based biomarker for the early and sensitive diagnosis of Maroteaux-Lamy disease from blood (plasma)	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.

Secondary Outcome Measures

Name	Time	Method
Testing for clinical robustness, specificity and long-term stability of the biomarker	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

Trial Locations

Locations (5)

Navi Mumbai Institute of Research In Mental And Neurological Handicap (NIRMAN); 🇮🇳 Mumbai, India

Children's Hospital, Faculty of Medicine, Ain Shams University; 🇪🇬 Cairo, Egypt

Centogene AG; 🇩🇪 Rostock, Germany

Lady Ridgeway Hospital for Children; 🇱🇰 Colombo 8, Sri Lanka

Amrita Institute of Medical Sciences & Research Centre; 🇮🇳 Cochin, Kerala, India