Biomarker for Maroteaux-Lamy Disease (BioMaroteaux)

Lung Diseases Clinical Trial

— BioMaroteaux  

Official title:

Biomarker for Maroteaux-Lamy Disease: BioMaroteaux-Lamy AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL

Clinical Trial Details — Status: Withdrawn

Administrative data

• NCT number: NCT01458613
• Other study ID #: BMAL 06-2018
• Status: Withdrawn
• Start date: August 20, 2018
• Est. completion date: February 28, 2021

Study information

• Verified date: February 2023
• Source: CENTOGENE GmbH Rostock
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial Summary

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

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.

Recruitment information / eligibility

• Status: Withdrawn
• Enrollment: 0
• Est. completion date: February 28, 2021
• Est. primary completion date: February 28, 2021
• Accepts healthy volunteers: No
• Gender: All
• Age group: 12 Months and older

Eligibility

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

Related Conditions & MeSH terms

• Eye Abnormalities
• Lung Diseases
• Lysosomal Storage Disease
• Lysosomal Storage Diseases
• Macroglossia
• Mucopolysaccharidosis VI
• Obstructive Sleep Apnoea
• Sleep Apnea, Obstructive

Locations

Country	Name	City	State
Egypt	Children's Hospital, Faculty of Medicine, Ain Shams University	Cairo
Germany	Centogene AG	Rostock
India	Amrita Institute of Medical Sciences & Research Centre	Cochin	Kerala
India	Navi Mumbai Institute of Research In Mental And Neurological Handicap (NIRMAN)	Mumbai
Sri Lanka	Lady Ridgeway Hospital for Children	Colombo 8

Sponsors (1)

Lead Sponsor	Collaborator
CENTOGENE GmbH Rostock

Countries where clinical trial is conducted

Egypt,  Germany,  India,  Sri Lanka, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Development of a new MS-based biomarker for the early and sensitive diagnosis of Maroteaux-Lamy disease from blood (plasma)	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.	24 month
Secondary	Testing for clinical robustness, specificity and long-term stability of the biomarker	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	36 months

External Links

•   Centogene is one of the leading laboratories focusing on genetic testing for rare hereditary disorders. We now offer more than 2200 routine genetic and biochemical tests.