Biomarker for Morquio Disease (BioMorquio)

This study is currently recruiting participants. (see Contacts and Locations)
Verified June 2014 by University of Rostock
Sponsor:
Information provided by (Responsible Party):
Prof. Dr. Arndt Rolfs, University of Rostock
ClinicalTrials.gov Identifier:
NCT01457456
First received: October 21, 2011
Last updated: June 3, 2014
Last verified: June 2014
  Purpose

Development of a new MS-based biomarker for the early and sensitive diagnosis of Morquio disease from plasma


Condition
Lysosomal Storage Diseases
Morquio Disease

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Prospective
Official Title: Biomarker for Morquio Disease AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL

Resource links provided by NLM:


Further study details as provided by University of Rostock:

Biospecimen Retention:   Samples With DNA

For the development of the new biomarkers using the technique of Mass-spectometry 7,5 ml EDTA blood,sputum tube and a dry blood spot filter card are taken. To proof the correct Morquio diagnosis in those patients where up to the enrollment in the study no genetic testing has been done, sequencing of Morquio will be done. The analyses are done in the Albrecht-Kossel-Institute for Neuroregeneration (AKos), POB 100 888, Gehlsheimer Str. 20, 18055 Rostock (Germany)


Estimated Enrollment: 250
Study Start Date: October 2011
Estimated Study Completion Date: November 2014
Estimated Primary Completion Date: October 2014 (Final data collection date for primary outcome measure)
Groups/Cohorts
Observation
Patients with Morquio disease at 12 months

Detailed Description:

Morquio syndrome (mucopolysaccharidosis type IV; MPS IV) is a mucopolysaccharide stor-age disease that exists in two forms (Morquio syndromes A and B) and occurs because of a deficiency of the enzymes N-acetyl-galactosamine-6-sulfatase and beta-galactosidase, respectively. A deficiency of either enzyme leads to the accumulation of mucopolysaccharides in the body, abnormal skeletal development, and additional symptoms. In most cases, individuals with Morquio syndrome have normal intelligence. The clinical features of MPS IV-B are less severe than those associated with MPS IV-A. Symptoms may include growth retardation, a prominent lower face, an abnormally short neck, knees that are abnormally close together (knock knees or genu valgum), flat feet, abnormal sideways and front-to-back or side-to-side curvature of the spine (kyphoscoliosis), abnormal development of the growing ends of the long bones (epiphyses) resulting in dwarfism, and/or a prominent breast bone (pectus carinatum) as well as bell shaped chest. Though the CNS and peripheral nerves are primarily not affected the bone defects may result in neurological symptoms such as spinal cord compression.

Hearing loss, weakness of the legs, and/or additional abnormalities may also occur.

The mucopolysaccharidoses (MPS) are a group of inherited lysosomal storage disorders. Lysosomes function as the primary digestive units within cells. Enzymes within lysosomes break down or digest particular nutrients, such as certain carbohydrates and fats. In individuals with MPS disorders, deficiency or malfunction of specific lysosomal enzymes lead to an abnormal accumulation of certain complex carbohydrates (mucopolysaccharides or glyco-saminoglycans) in the arteries, skeleton, eyes, joints, ears, skin and/or teeth. These accumulations may also be found in the respiratory system, liver, spleen, central nervous system, blood, and bone marrow. This accumulation eventually causes progressive damage to cells, tissues, and various organ systems of the body. There are several different types and subtypes of mucopolysaccharidosis. These disorders, with one exception, are inherited as autosomal recessive traits and all vary in their clinical phenotype. Within our clinical trial we focus on MPS type IV.

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

Ages Eligible for Study:   12 Months and older
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Sampling Method:   Probability Sample
Study Population

Patients with Morquio Disease based upon biochemical and/or genetic criteria

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 Morquio disease based upon biochemical and/or genetic criteria

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 Morquio disease
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT01457456

Contacts
Contact: Arndt Rolfs, MD 49 381 494 ext 9540 arndt.rolfs@med.uni-rostock.de
Contact: Susanne Zielke 49 381 494 ext 4739 susanne.zielke@med.uni-rostock.de

Locations
Algeria
Pediatric practice Recruiting
Oran, Algeria, 31000
Contact: Abdelmadjid Benmansour, MD       benmansour_b@yahoo.com   
Principal Investigator: Abdelmadjid Benmansour, MD         
Brazil
Clinics Hospital of Ribeirao Preto- University of Sao Paulo Recruiting
Sao Paulo, Brazil, 14048-900
Contact: Charles Marques Lourenco, MD       charlesgenetica@gmail.com   
Principal Investigator: Charles Marques Lourenco, MD         
Germany
University of Rostock, Albrecht Kossel Institute Recruiting
Rostock, Germany, 18147
Contact: Arndt Rolfs, MD    49 381494 ext 9540    arndt.rolfs@med.uni-rostock.de   
Contact: Susanne Zielke    49 381 494 ext 4739    susanne.zielke@med.uni-rostock.de   
Principal Investigator: Arndt Rolfs, MD         
India
MIRMA, University of Mumbai Recruiting
Mumbai, India, 400705
Contact: Anil Jalan, MD       jalananil@yahoo.com   
Principal Investigator: Anil Jalan, MD         
Saudi Arabia
Dhahran Health Center - Saudi Aramco Medical Services Organization Recruiting
Dhahran, Saudi Arabia, 31311
Contact: Nouriya Al-Sannaa, MD    +9663 877 ext 8290    nouriya.sannaa@aramco.com   
Principal Investigator: Nouriya Abbas Al-Sannaa, MD         
Serbia
Mother and Child Health Institute of Serbia "Dr Vukan Cupic" Recruiting
Belgrad, Serbia, 11070
Contact: Adrijan Sarajlija, MD       adrijans2004@yahoo.com   
Principal Investigator: Adrijan Sarajlija, MD         
Sponsors and Collaborators
University of Rostock
  More Information

No publications provided

Responsible Party: Prof. Dr. Arndt Rolfs, Prof. Dr. med., University of Rostock
ClinicalTrials.gov Identifier: NCT01457456     History of Changes
Other Study ID Numbers: BM08/2011
Study First Received: October 21, 2011
Last Updated: June 3, 2014
Health Authority: Germany: Ethics Commission

Keywords provided by University of Rostock:
Mucopolysaccharidoses
Mucopolysaccharidosis IV
Carbohydrate Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Lysosomal Storage Diseases
Connective Tissue Diseases
Metabolic Diseases
Musculoskeletal Diseases

Additional relevant MeSH terms:
Mucopolysaccharidosis IV
Osteochondrodysplasias
Lysosomal Storage Diseases
Metabolic Diseases
Mucopolysaccharidoses
Carbohydrate Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Mucinoses
Connective Tissue Diseases
Bone Diseases, Developmental
Bone Diseases
Musculoskeletal Diseases

ClinicalTrials.gov processed this record on July 22, 2014