Non-invasive Assessment of Morquio A Syndrome to Understand Disease Progression and Improve Future Treatments

What this Trial Is About

Morquio A disease, also known as Mucopolysaccharidosis IVA MPS IVA, is a rare genetic disorder causing serious skeletal problems and other health issues like joint laxity, tracheal obstruction, and reduced lung capacity. Researchers are working to better understand how the disease progresses and affects patients of all ages. This study aims to develop non-invasive ways to assess these problems and define clear clinical goals for future treatments. The study involves detailed non-invasive assessments including imaging tests like X-rays, MRI, CT angiography, bone density scans, and gait analysis. It also evaluates lung function, joint mobility, hearing, quality of life, and biochemical markers. These tests will be done at different times over several years to track changes and disease progression without burdening patients. Participants will undergo multiple evaluations at baseline and follow-ups at 18, 36, and 48 months. These include physical measurements, questionnaires, pulmonary tests, imaging scans, and hearing and gait analysis. The study carefully tracks many health aspects to better understand the diseases impact and support the design of future clinical trials and therapies for Morquio A patients.

Non-invasive Functional Assessment and Pathogenesis of Morquio A