Therapy development for the mucopolysaccharidoses: Updated consensus recommendations for neuropsychological endpoints

Area of Science:

• Neurology
• Genetics
• Clinical Trials

Background:

• Neurological dysfunction is a key feature in many mucopolysaccharidoses (MPS) disorders.
• Accurate neuropsychological assessment is crucial for understanding MPS natural history and evaluating therapeutic impacts on the brain.
• Previous 2017 recommendations focused on cognitive function and adaptive behavior in neuronopathic MPS.

Purpose of the Study:

• To provide updated consensus recommendations for assessing neurological and related aspects in MPS disorders.
• To expand assessment objectives beyond cognition to include behavioral, social-emotional, caregiver burden, and quality of life.
• To establish best practices for clinical studies involving all types of MPS.

Main Methods:

• Convened an International MPS Consensus Conference in February 2020.
• Reviewed and updated existing 2017 consensus recommendations.
• Incorporated broader assessment domains based on expert consensus.

Main Results:

• Revised best practice recommendations for clinical studies in MPS.
• Expanded scope to include behavioral, social-emotional, caregiver burden, and quality of life assessments.
• Provided a framework for comprehensive evaluation in all MPS types.

Conclusions:

• Updated consensus recommendations are essential for advancing research in MPS disorders.
• Comprehensive assessment strategies are needed to fully understand the impact of MPS on patients and their families.
• These guidelines will facilitate the design of more effective clinical trials for MPS therapies.