MPS VI (Maroteaux-Lamy Syndrome) Registry

Protocol Description

The goal of this observational study is to collect medical information about people worldwide with the genetic disorder mucopolysaccharidosis type VI (MPS VI), also known as Maroteaux-Lamy syndrome, to better understand what happens to them over time. People with MPS VI lack an enzyme that normally breaks down a certain type of sugar, leading to its accumulation in body tissues causing physical problems such as decreased growth, nose, throat and ear problems, heart disease, bowel problems, and bone and joint problems. Through participation in this program, patient test results will be entered into a database along with other MPS VI patients. Analysis by the program sponsor may lead to insights that will help physicians learn more about treating people with the condition.

Eligibility Criteria

The study is accepting patients of both genders and of all ages who have a confirmed diagnosis of MPS VI.
Males and Females: All ages

Requirements

Physicians must provide information from a physical exam, a blood test, and a urine test for their enrolled patients. For participants who are also receiving enzyme replacement therapy, additional blood work may optionally be collected for analysis and entered into the study database. Information from other tests required by participants’ physicians over time for disease management will also be entered into the database.
Visits: Not applicable
Duration: Ongoing

Status: Open to Enrollment

Source(s) of Support

BioMarin Pharmaceutical

Additional Information

Study Description at National Institutes of Health
Medical Genetics Research

Primary Investigator

Gerard Vockley, MD, PhD

Contact Information

For more information about the study or enrollment, please contact:
Nadene Henderson, MS, LCGC
412-692-6065