A Clinical Assessment Study of Subjects With Mucopolysaccharidosis IVA (Morquio Syndrome)

This study is currently recruiting participants.

Verified January 2011 by BioMarin Pharmaceutical

First Received on November 6, 2008. Last Updated on January 3, 2011 History of Changes

Sponsor:	BioMarin Pharmaceutical
Information provided by:	BioMarin Pharmaceutical
ClinicalTrials.gov Identifier:	NCT00787995

Purpose

This multicenter, multinational, longitudinal study in subjects diagnosed with MPS IVA will better characterize the spectrum of symptoms and biochemical abnormalities in MPS IVA disease.

Condition
MPS IV A

Study Type:	Observational
Study Design:	Observational Model: Case-Only
Official Title:	A Multicenter, Multinational, Longitudinal Clinical Assessment Study of Subjects With Mucopolysaccharidosis IVA (Morquio Syndrome)

Resource links provided by NLM:

Genetics Home Reference related topics: Melnick-Needles syndrome mucopolysaccharidosis type IV

U.S. FDA Resources

Further study details as provided by BioMarin Pharmaceutical:

Primary Outcome Measures:

Endurance [ Time Frame: Study Visit ] [ Designated as safety issue: No ]
Respiratory Function [ Time Frame: Study Visit ] [ Designated as safety issue: No ]

Biospecimen Retention: Samples With DNA

Blood and urine collected

Estimated Enrollment:	300
Study Start Date:	October 2008
Estimated Primary Completion Date:	October 2018 (Final data collection date for primary outcome measure)

Groups/Cohorts
MPS IVA Subjects with mucopolysaccharidosis IVA (Morquio Syndrome)

Eligibility

Genders Eligible for Study:	Both
Accepts Healthy Volunteers:	No
Sampling Method:	Non-Probability Sample

Study Population

Subjects diagnosed with MPS IVA

Criteria

Inclusion Criteria:

Willing and able to provide written, signed informed consent, or in the case of subjects age < 18 years, provide written assent (if required) and written informed consent by a legally authorized representative after the nature of the study has been explained, and prior to any research-related procedures.
Documented history of reduced GALNS activity relative to the normal range of the laboratory performing the assay, or documented result of molecular genetic testing confirming diagnosis of MPS IVA.
Willing and able to comply with all study procedures.

Exclusion Criteria:

Use of any investigational product or investigational medical device within 30 days prior to screening.
Previous hematopoietic stem cell transplant (HSCT).
Concurrent disease or condition that would interfere with study participation or pose a safety concern.

Contacts and Locations

Please refer to this study by its ClinicalTrials.gov identifier: NCT00787995

Contacts

Contact: Kenny Jones

866-961-8212

Locations

United States, California
	Recruiting
Oakland, California, United States
United States, Illinois
	Recruiting
Chicago, Illinois, United States
Argentina
	Active, not recruiting
Cordoba, Argentina
Brazil
	Active, not recruiting
Porto Alegre, Brazil
	Active, not recruiting
Sao Paulo, Brazil
Canada, Quebec
	Active, not recruiting
Montreal, Quebec, Canada
France
	Active, not recruiting
Lyon, France
	Active, not recruiting
Paris, France
Germany
	Active, not recruiting
Mainz, Germany
Italy
	Active, not recruiting
Monza, Italy
Netherlands
	Active, not recruiting
Amsterdam, Netherlands
Taiwan
	Active, not recruiting
Taipei, Taiwan
United Kingdom
	Active, not recruiting
Birmingham, United Kingdom
	Active, not recruiting
London, United Kingdom
	Active, not recruiting
Manchester, United Kingdom

Sponsors and Collaborators

BioMarin Pharmaceutical

Investigators

Study Director:

Sabrina Cheng, MD

BioMarin Pharmaceutical

More Information

Additional Information:

BioMarin Pharmaceutical Inc. website This link exits the ClinicalTrials.gov site

The BioMarin Morquio Program This link exits the ClinicalTrials.gov site

No publications provided by BioMarin Pharmaceutical

Additional publications automatically indexed to this study by ClinicalTrials.gov Identifier (NCT Number):

Martell LA, Cunico RL, Ohh J, Fulkerson W, Furneaux R, Foehr ED. Validation of an LC-MS/MS assay for detecting relevant disaccharides from keratan sulfate as a biomarker for Morquio A syndrome. Bioanalysis. 2011 Aug;3(16):1855-66.

Responsible Party:	BioMarin Pharmaceutical Inc.
ClinicalTrials.gov Identifier:	NCT00787995 History of Changes
Other Study ID Numbers:	MOR-001
Study First Received:	November 6, 2008
Last Updated:	January 3, 2011
Health Authority:	United States: Institutional Review Board United Kingdom: Research Ethics Committee France: Institutional Ethical Committee France: Afssaps - French Health Products Safety Agency

Keywords provided by BioMarin Pharmaceutical:

Mucopolysaccharidosis IV type A
MPS IV Type A
Mucopolysaccharidosis IVA
MPS IVA
Morquio A Syndrome
Lysosomal Storage Disorder

LSD
N-acetylgalactosamine-6-sulfatase
galactose-6-sulfatase
GALNS
enzyme replacement therapy
ERT

Additional relevant MeSH terms:

Mucopolysaccharidoses
Mucopolysaccharidosis IV
Osteochondrodysplasias
Carbohydrate Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Lysosomal Storage Diseases

Mucinoses
Connective Tissue Diseases
Metabolic Diseases
Bone Diseases, Developmental
Bone Diseases
Musculoskeletal Diseases

ClinicalTrials.gov processed this record on May 23, 2012