The objective of the study is to quantify endurance and respiratory function in subjects with MPS IV A and to better characterize the spectrum of symptoms and biochemical abnormalities in MPS IV A disease over time.
ID
Source
Brief title
Condition
- Cytoplasmic disorders congenital
- Inborn errors of metabolism
Synonym
Research involving
Sponsors and support
Intervention
Outcome measures
Primary outcome
To quantify the endurance and respiratory function.
Secondary outcome
To characterize the spectrum of symptoms and biochemical abnormalities.
Background summary
Mucopolysaccharidosis IV type A (MPS IV A, also known as Morquio syndrome) is a
disease charachterized by a deficient activity of N-acetylgalactosamine
6-sulfatase (GALNS) causing excessive lysosomal storage of keratan sulfate
(KS). This excessive storage causes systemic skeletal dysplasia, short stature,
and joint abnormalities, all of which limit mobility and endurance.
Malformation of the thorax and obstructive disease impair respiratory function.
Odontoid process hypoplasia and ligamentous laxity cause instability of the
cervical spine that may lead to cord compression. Other symptoms may include
hearing loss, corneal clouding, and heart valvular disease, among others.
In a questionnaire-based survey study, most subjects reported progressive
skeletal dysplasia, frequent surgical procedures, and limitation in walking
distance. However, no clinical assessment studies have been conducted that were
based on observation and testing of a substantial number of subjects affected
with MPS IV A. Characterization of clinical impairments across a large subject
population is expected to improve understanding of the disease and facilitate
selection of appropriate clinical and biomarker endpoints for future
therapeutic clinical studies.
Study objective
The objective of the study is to quantify endurance and respiratory function in
subjects with MPS IV A and to better characterize the spectrum of symptoms and
biochemical abnormalities in MPS IV A disease over time.
Study design
A multicenter, multinational, longitudinal, cross-sectional study in subjects
diagnosed with MPS IV A.
Study burden and risks
Patients are asked about their medical history, a physical examination is done,
a visual acuity test, a neurological test, a 6-minute walking test and a
3-minute stair climb test, a respiratory examination, an electrocardiogram, a
cardiac ultrasound, a questionnaire about the health status and the use of
health facilities. Besides that a urine sample and a blood sample are taken and
examined.
105 Digital Drive
Novato, CA 94949
US
105 Digital Drive
Novato, CA 94949
US
Listed location countries
Age
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.
Design
Recruitment
Followed up by the following (possibly more current) registration
No registrations found.
Other (possibly less up-to-date) registrations in this register
No registrations found.
In other registers
| Register | ID |
|---|---|
| CCMO | NL27978.018.09 |