Persistent bone and joint disease despite current treatments for mucopolysaccharidosis types I, II, and VI: Data from...

Area of Science:

• Medical Science
• Genetics and Inherited Diseases
• Pediatrics

Background:

• Mucopolysaccharidosis (MPS) disorders are rare genetic conditions with significant skeletal manifestations.
• Emerging therapies necessitate robust historical control data for disease progression and variability assessment.
• Bone and joint disease are key features impacting quality of life in MPS patients.

Purpose of the Study:

• To systematically evaluate bone and joint disease progression in children with MPS IH, IA, II, and VI over a 10-year period.
• To establish historic control data for future clinical trials of novel MPS therapies.
• To assess the long-term impact of existing treatments on skeletal health and growth.

Main Methods:

• A 10-year prospective observational study involving 55 children with various MPS types (IH, IA, II, VI).
• Annual measurements of height, weight, and joint range of motion (goniometry).
• Mixed-effects modeling was employed to analyze longitudinal changes in skeletal parameters.

Main Results:

• Short stature persisted, with height z-scores decreasing over time in MPS IH, MPS II, and MPS VI.
• All participants exhibited joint contractures, which remained stable throughout the study.
• Elevated average Body Mass Index (BMI) percentiles were observed across all studied MPS types.

Conclusions:

• Current treatments for MPS I, II, and VI do not fully resolve short stature and joint contractures.
• Persistent bone and joint disease may contribute to increased BMI, potentially linked to reduced physical activity.
• This longitudinal data underscores the need for weight management and targeted bone therapies in MPS patient care.