Clinical trial NCT01458613: Biomarker for Maroteaux-Lamy Disease (BioMaroteaux)
Official title: Biomarker for Maroteaux-Lamy Disease: BioMaroteaux-Lamy AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL
Study type: OBSERVATIONAL
Overall status: WITHDRAWN
Conditions: Lysosomal Storage Disease
Lung Diseases
Obstructive Sleep Apnoea
Macroglossia
Eye Abnormalities
Keywords: Maroteaux-Lamy Disease
Biomarker
Lead sponsor: CENTOGENE GmbH Rostock
Sponsor class: INDUSTRY
First posted: 2011-10-25
Enrollment: 0
Sex: ALL
Minimum age (years): 12
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: PROBABILITY_SAMPLE
Study population: Patients with Maroteaux-Lamy disease

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.

Eligibility criteria: 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

Primary outcomes:
measure: Development of a new MS-based biomarker for the early and sensitive diagnosis of Maroteaux-Lamy disease from blood (plasma)
timeFrame: 24 month
Secondary outcomes:
measure: Testing for clinical robustness, specificity and long-term stability of the biomarker
timeFrame: 36 months
Other outcomes:
Locations:
city: Cairo
country: Egypt
facility: Children's Hospital, Faculty of Medicine, Ain Shams University
city: Rostock
country: Germany
facility: Centogene AG
city: Cochin
country: India
facility: Amrita Institute of Medical Sciences & Research Centre
state: Kerala
city: Mumbai
country: India
facility: Navi Mumbai Institute of Research In Mental And Neurological Handicap (NIRMAN)
city: Colombo 8
country: Sri Lanka
facility: Lady Ridgeway Hospital for Children
Study officials:
affiliation: Centogene GmbH
name: Peter Bauer, Prof.
role: STUDY_CHAIR
References: