Lead Investigator: Su Syonmez, Orchard Therapeutics
Title of Proposal Research: Natural History Study of Patients With Mucopolysaccharidosis type IIIA (MPS IIIA)
Vivli Data Request: 10408
Funding Source: The lead researcher and statistician researcher are employees of Orchard Therapeutics.
Potential Conflicts of Interest: Funding from employer (Orchard Therapeutics) through employment contract.
This conflict of interest will be managed through disclosure of interests when the research is presented and published.
Summary of the Proposed Research:
Mucopolysaccharidosis type IIIA (MPSIIIA), or Sanfillipo Syndrome type A, is a rare genetic disorder where a missing enzyme causes harmful substances called glycosaminoglycans (GAGs) to build up in cells.
In healthy people, GAGs help build and maintain bones, cartilage, skin, and other tissues. All tissues have some of this substance as a normal part of their structure. Normally, old GAGs are broken down and replaced with new ones. But in MPSIIIA, this breakdown process doesn’t work properly, leading to a harmful buildup of GAGs. This buildup causes ongoing damage to cells, affecting a person’s appearance, physical abilities, organ function, and often their mental development.
Currently, there are no treatments that change the course of MPSIIIA. The usual approach for managing MPSIIIA is supportive care, which helps with symptoms but doesn’t stop the disease from getting worse or prevent it from being fatal.
The analysis of data from this study will provide a summary and visual representation of disease manifestation over time. Tracking key measures of the disease as patients age will help evaluate how the disease changes and how best to describe and manage it. A detailed look at how the disease progresses by evaluating symptoms and measurements will help shape future study design decisions and let developers assess how well new treatments work.
Requested Studies:
A Longitudinal, Prospective, Natural History Study of Patients With Sanfilippo Syndrome Type A (MPS IIIA)
Data Contributor: Takeda
Study ID: NCT01047306
Sponsor ID: HGT-SAN-053