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

This study is currently recruiting participants.

Verified by BioMarin Pharmaceutical, April 2009

First Received: November 6, 2008 Last Updated: April 7, 2009 History of Changes

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

Purpose

This multicenter, multinational, cross-sectional 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

Genetics Home Reference related topics: Melnick-Needles syndrome

U.S. FDA Resources

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

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

Biospecimen Description:

Blood and urine collected

Estimated Enrollment:	300
Study Start Date:	October 2008
Estimated Primary Completion Date:	December 2009 (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.
Diagnosis of MPS IVA, demonstrated by documented history of reduced GALNS activity relative to the normal range of the laboratory performing the assay.
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: Candice F Henkel	US 1-866-961-8212
Contact: Candice F Henkel	Int'l +1-866-990-6774 [MPS4]

Locations

United States, California
	Recruiting
Oakland, California, United States
United States, Illinois
	Recruiting
Chicago, Illinois, United States
United Kingdom
	Recruiting
Birmingham, United Kingdom
	Recruiting
London, United Kingdom
	Recruiting
Manchester, United Kingdom

Sponsors and Collaborators

BioMarin Pharmaceutical

Investigators

Study Director:

Celeste Decker, 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

Responsible Party:	BioMarin Pharmaceutical Inc. ( BioMarin Pharmaceutical Inc. )
Study ID Numbers:	MOR-001
Study First Received:	November 6, 2008
Last Updated:	April 7, 2009
ClinicalTrials.gov Identifier:	NCT00787995 History of Changes
Health Authority:	United States: Institutional Review Board; United Kingdom: Research Ethics Committee

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

Study placed in the following topic categories:

Metabolic Diseases
Lysosomal Storage Diseases
Osteochondrodysplasias
Bone Diseases
Metabolism, Inborn Errors
Mucopolysaccharidoses
Morquio Syndrome

Genetic Diseases, Inborn
Musculoskeletal Diseases
Mucopolysaccharidosis IV
Connective Tissue Diseases
Bone Diseases, Developmental
Metabolic Disorder
Eccentrochondrodysplasia

Additional relevant MeSH terms:

Disease
Metabolic Diseases
Lysosomal Storage Diseases
Osteochondrodysplasias
Mucinoses
Bone Diseases
Metabolism, Inborn Errors
Mucopolysaccharidoses

Pathologic Processes
Musculoskeletal Diseases
Genetic Diseases, Inborn
Mucopolysaccharidosis IV
Syndrome
Connective Tissue Diseases
Bone Diseases, Developmental
Carbohydrate Metabolism, Inborn Errors

ClinicalTrials.gov processed this record on May 07, 2009