Mucopolysaccharidosis VI (MPS VI, Maroteaux-Lamy Syndrome)
Conditions
Brief summary
The objectives of this program are: to further characterize the natural progression of MPS VI disease; to generate and disseminate information on the care and management of MPS VI patients to clinical and medical professionals; to provide a resource to physicians and patients by providing information for optimizing patient care based on aggregate data; to characterize the clinical response to long-term Naglazyme® (galsulfase) treatment; to further characterize the long-term safety of Naglazyme® treatment.
Interventions
None listed
Sponsors
BioMarin Pharmaceutical
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Healthy volunteers
No
Inclusion criteria
All patients must meet the following criteria to qualify for enrollment in the CSP: * Patient or patient's parent or legal guardian, if child is under 18 year old or is unable to consent, has provided a signed Patient Information and Authorization Form. * Patient has laboratory results confirming a diagnosis of MPS VI disease based on detection of deficient ARSB activity (on fibroblasts, leucocytes or dried blood spots)and/or abnormality on the ARSB gene. * Patient is willing to undergo general assessments to establish baseline data or permits physician to enter assessment data recorded prior to CSP entry if available in the patient's medical records. General assessments include: urinary GAG level, urinary protein level, serum sample for antibody levels, height, weight, and patient history.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| To further characterize the natural progression of MPS VI disease, irrespective of treatment modality and to evaluate efficacy and safety treatment with Galsulfase. | at least 15 years |
Countries
Australia, Austria, Belgium, France, Germany, Ireland, Italy, Lithuania, Netherlands, Portugal, Sweden, United Kingdom, United States
Outcome results
None listed