Biomarker for Maroteaux-Lamy Disease (BioMaroteaux) (BioMaroteaux)

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

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

Study Overview

• Status: Withdrawn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

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

Contacts and Locations

Study Locations

• Egypt
  • Cairo, Egypt, 89075
    • Children's Hospital, Faculty of Medicine, Ain Shams University
• Germany
  • Rostock, Germany, 18055
    • Centogene AG
• India
  • Mumbai, India, 400705
    • Navi Mumbai Institute of Research In Mental And Neurological Handicap (NIRMAN)
  • Kerala
    • Cochin, Kerala, India, 682041
      • Amrita Institute Of Medical Sciences & Research Centre
• Sri Lanka
  • Colombo 8, Sri Lanka, 00800c
    • Lady Ridgeway Hospital for Children

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 1 year and older (ADULT, OLDER_ADULT, CHILD)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Probability Sample

Study Population

Patients with Maroteaux-Lamy disease

Description

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 Plan

How is the study designed?

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort
Observation; Patients with Maroteaux-Lamy disease

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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 Outcome Measures

Outcome Measure	Measure Description	Time Frame
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

Collaborators and Investigators

• Sponsor: CENTOGENE GmbH Rostock

Publications and helpful links

Helpful 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.

Study record dates

Study Major Dates

• Study Start (ACTUAL): August 20, 2018
• Primary Completion (ACTUAL): February 28, 2021
• Study Completion (ACTUAL): February 28, 2021

Study Registration Dates

• First Submitted: October 24, 2011
• First Submitted That Met QC Criteria: October 24, 2011
• First Posted (ESTIMATE): October 25, 2011

Study Record Updates

• Last Update Posted (ACTUAL): February 13, 2023
• Last Update Submitted That Met QC Criteria: February 9, 2023
• Last Verified: February 1, 2023

More Information

Terms related to this study

• Keywords: Biomarker; Maroteaux-Lamy Disease
• Additional Relevant MeSH Terms: Metabolic Diseases; Nervous System Diseases; Respiratory Tract Diseases; Apnea; Respiration Disorders; Sleep Disorders, Intrinsic; Dyssomnias; Sleep Wake Disorders; Eye Diseases; Congenital Abnormalities; Genetic Diseases, Inborn; Connective Tissue Diseases; Stomatognathic Diseases; Mouth Diseases; Sleep Apnea Syndromes; Carbohydrate Metabolism, Inborn Errors; Metabolism, Inborn Errors; Mucinoses; Mucopolysaccharidoses; Tongue Diseases; Sleep Apnea, Obstructive; Lung Diseases; Lysosomal Storage Diseases; Eye Abnormalities; Macroglossia; Mucopolysaccharidosis VI
• Other Study ID Numbers: BMAL 06-2018

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: UNDECIDED

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No