A Multicenter, Multinational, Longitudinal Clinical Assessment Study of Subjects with Mucopolysaccharidosis IVA (Morquio Syndrome).

Completed

• Conditions: metabolic disease; syndrome of Morquio; 10052635; 10021605

• Registration Number: NL-OMON36408
• Lead Sponsor: BioMarin

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Last Update Posted: 6 May 2024

Recruitment & Eligibility

• Status: Completed
• Sex: Not specified
• Target Recruitment: 25

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.

Study & Design

• Study Type: Observational invasive
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
<p>To quantify the endurance and respiratory function. </p><br>

Secondary Outcome Measures

Name	Time	Method
<p>To characterize the spectrum of symptoms and biochemical abnormalities.</p><br>